Halit Akbaş - Academia.edu (original) (raw)
Papers by Halit Akbaş
Cell Biochemistry and Function, 2007
Rats depleted in long‐chain polyunsaturated ω3 fatty acids (ω3‐depleted rats) display several fea... more Rats depleted in long‐chain polyunsaturated ω3 fatty acids (ω3‐depleted rats) display several features of the metabolic syndrome including hypertension and cardiac hypertrophy. This coincides with alteration of the cardiac muscle phospholipid and triacylglycerol fatty acid content and/or pattern. In the present study, the latter variables were measured in the cardiac endothelium of normal and ω3‐depleted rats. Samples derived from four rats each were obtained from 16 female normal fed rats and three groups of 36–40 female fed ω3‐depleted rats each aged 8–9, 15–16 and 22–23 weeks. At comparable mean age, the ratio between the square root of the total fatty acid content of phospholipids and cubic root of the total fatty acid content of triacylglycerols was lower in ω3‐depleted rats than in control animals. The total fatty acid content of triacylglycerols was inversely related to their relative content in C20:4ω6. Other differences between ω3‐depleted rats and control animals consisted...
Angiology, 2011
There are conflicting reports about the association of endothelial nitric oxide synthase (eNOS) g... more There are conflicting reports about the association of endothelial nitric oxide synthase (eNOS) gene polymorphism and the risk of coronary artery disease (CAD). To determine the frequency of eNOS G894T variant and to find the possible association between this polymorphism with CAD we studied 207 unrelated patients with total CAD (with and without diabetes) and 92 controls. The eNOS variants were detected by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP). The presence of GT + TT genotype was associated with 2.1-fold ( P = .006), 2.29-fold ( P = .006), and 1.93-fold ( P = .032) increased risk of CAD in total CAD, CAD with diabetes, and in CAD without diabetes patients, respectively. The presence of T allele of eNOS increased the risk of CAD 2.15-fold ( P = .001). The levels of low-density lipoprotein cholesterol (LDL-C) and triglycerides (TG) tended to be higher in patients carrier for T allele compared to those with G allele. The results of present stud...
Clinical Nephrology, Feb 1, 2014
AIM Gestational diabetes mellitus (GDM) is a glucose intolerant condition that affects 14% of all... more AIM Gestational diabetes mellitus (GDM) is a glucose intolerant condition that affects 14% of all pregnancies. Diabetes mellitus (DM) occurs in 30 - 70% of patients with GDM after delivery. DM and GDM are associated with structural and functional deterioration of the renovascular system. Our aim is to investigate the association Glu- 298Asp polymorphism of the endothelial nitric oxide synthase (eNOS) gene with serum nitric oxide levels and microalbuminuria in patients with GDM and healthy pregnancies. MATERIAL AND METHODS Serum nitric oxide (NO) levels, urinary excretion of albumin and Glu298Asp polymorphism of the eNOS gene were analyzed in 68 patients with GDM and 73 healthy controls. High performance liquid chromatography (HPLC-Griess) method was used to analyze serum NO levels. Microalbuminuria was evaluated by rate nephelometry method. The Glu298Asp polymorphism of the eNOS gene was determined by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). RESULTS Nitric oxide, glucose, creatinine, and microalbuminuria were significantly different between the patients and the control subjects (p = 0.001, p = 0.001, p = 0.002, and p = 0.005, respectively). There was a significant difference between groups in terms of the ratio of GG/GT+TT of eNOS gene Glu- 298Asp (p = 0.02). The patients with GT+TT genotype had significantly higher microalbuminuria levels and lower NO concentrations (22.16 vs. 9.51, p = 0.005, and 10.56 vs. 12.73, p = 0.021, respectively). The presence of T allele of eNOS gene is an independent predictor of microalbuminuria (OR: 2.346, 95% confidence interval: 1.247 - 5.238, p = 0.02) as well as serum glucose and NO concentration. CONCLUSION The G894T polymorphism of eNOS gene and decreased NO concentration seem to be independent predictors of increased urinary excretion of albumin in patients with GDM. Determining the frequency of eNOS gene G894T polymorphism may help to identify pregnancies at increased risk of microalbuminuria.
Comparative Biochemistry and Physiology B, Jun 1, 2002
Rats depleted in long-chain polyunsaturated v3 fatty acids (v3-depleted rats) display several fea... more Rats depleted in long-chain polyunsaturated v3 fatty acids (v3-depleted rats) display several features of the metabolic syndrome including hypertension and cardiac hypertrophy. This coincides with alteration of the cardiac muscle phospholipid and triacylglycerol fatty acid content and/or pattern. In the present study, the latter variables were measured in the cardiac endothelium of normal and v3-depleted rats. Samples derived from four rats each were obtained from 16 female normal fed rats and three groups of 36-40 female fed v3-depleted rats each aged 8-9, 15-16 and 22-23 weeks. At comparable mean age, the ratio between the square root of the total fatty acid content of phospholipids and cubic root of the total fatty acid content of triacylglycerols was lower in v3-depleted rats than in control animals. The total fatty acid content of triacylglycerols was inversely related to their relative content in C20:4v6. Other differences between v3-depleted rats and control animals consisted in a lower content of long-chain polyunsaturated v3 fatty acids in both phospholipids and triacylglycerols, higher content of long-chain polyunsaturated v6 fatty acids in phospholipids, higher activity of D9-desaturase (C16:0/C16:1v7 and C18:0/C18:1v9 ratios) and elongase [(C16:0 þ C16:1v7)/(C18:0 þ C18:1v9) and C20:4v6/C22:4v6 ratios], but impaired generation of C22:6v3 from C22:5v3 in the former rats. These findings support the view that cardiovascular perturbations previously documented in the v3-depleted rats may involve impaired heart endothelial function.
Annals of Dermatology, 2014
Background: Vitiligo is an autoimmune polygenic disorder characterized by loss of pigmentation du... more Background: Vitiligo is an autoimmune polygenic disorder characterized by loss of pigmentation due to melanocyte destruction. The PTPN22 gene +1858 C>T single nucleotide polymorphism (rs2476601) has been shown to be associated with various autoimmune disorders. Objective: The aim of this study was to investigate whether the PTPN22 gene +1858 C>T single nucleotide polymorphism is associated with susceptibility to generalized vitiligo in a Turkish population. Methods: One hundred and seven patients with generalized vitiligo, and one hundred and twelve gender-, age-, and ethnic-matched controls were enrolled in the study. Genotyping was done by polymerase chain reaction-restriction fragment length polymorphism. Results: The PTPN22 +1858 C>T genotype and allele frequencies of the generalized vitiligo patients did not differ significantly from those of healthy controls. Conclusion: We found no association between the PTPN22 +1858 C>T gene polymorphism and vitiligo susceptibility in Turkish generalizedvitiligo patients. (Ann Dermatol 26(1) 88∼91, 2014
Journal of gynecology obstetrics and human reproduction, Mar 1, 2019
Habitual abortion (HA) is defined at least three consecutive pregnancy losses. One of the etiolog... more Habitual abortion (HA) is defined at least three consecutive pregnancy losses. One of the etiologic causes is parental chromosomal anomalies. In this study, we aimed to that investigate the effect of parental chromosomal abnormalities on HA. Methods: The cytogenetic results of patients with at least three abortions referred to our university hospital between January 2010-March 2017 were evaluated. A total of 1154 couples with HA were analysed. Peripheral lymphocyte cultures incubated for 72 h were used for karyotype analysis via the Giemsa banding technique. Results: Of a total 1154 couples (2308 patients) 37 female (3.2%) and 17 male (1.47%) had abnormal karyotypes. Reciprocal translocation carriage (n = 26; 1.12%) was the most commonly detected structural anomaly, followed by X chromosome mosaicism (n = 16; 0.69%),Robertsoniantranslocation (n = 9; 0.38%), Chromosomal inversion (n = 6; 0.26%). Chromosomal polymorphisms, which are considered minor chromosomal changes, were detected in 221 (9.57%) individuals. Conclusion: Our study exhibits that chromosomal analysis in patient with HA is an appropriate approach to elucidate the aetiology of HA. Data from cytogenetic screening can be used in guiding couples planning future pregnancies and in prenatal diagnosis of chromosomal anomalies in the foetus.
Journal of Obstetrics and Gynaecology, 2019
Abstract Insulin resistance plays a central role in the development of gestational diabetes melli... more Abstract Insulin resistance plays a central role in the development of gestational diabetes mellitus (GDM). The fetuin A molecule, of which serum level increases during pregnancy, is an inhibitor of insulin receptor tyrosine kinase and it is associated with insulin resistance. The aim of this study is to research the relationship of –843A>T (rs2248690) and 767C>G (rs4918) polymorphisms in the alpha-2-Heremans Schmid glycoprotein (AHSG) gene which is responsible for the synthesis of fetuin A and its association with (GDM). In this study, 83 pregnant women with GDM who applied to the Obstetrics and Gynaecology Clinics and 100 normal pregnants enrolled as the control group. Genotyping of AHSG gene polymorphisms was performed by using the TaqMan allelic discrimination kit with real time PCR device. In our study, homozygous GG genotype which was polymorphic in the 767C>G polymorphism of AHSG gene was found significantly low in the patient group (p < .05). Genotype distribution of AHSG gene –843A>T polymorphism was not statistically significant between the patient and control groups (p > .05). Our results showed that homozygous GG variant of AHSG gene 767C>G polymorphism may have protective effect against the development of GDM. Impact statement What is already known on this subject? Insulin resistance has a central role in the development of gestational diabetes mellitus (GDM). The fetuin A molecule is an inhibitor of insulin receptor tyrosine kinase and it is associated with insulin resistance. The –843T>A and 767G>C polymorphisms of AHSG gene encoding fetuin A are affects serum fetuin A level. In a single study investigating the relationship between GDM and AHSG gene 767G>C polymorphism, there was no significant difference in genotype distribution but it was reported that the frequency of G allele increased in GDM group and this increase provided a weak risk or predisposition. What the results of this study add? The present study revealed that homozygous GG variant of AHSG gene 767C>G polymorphism may decrease the risk of GDM. What the implications are of these findings for clinical practice and/or further research? Protective effect of homozygous GG variant of AHSG gene 767C>G polymorphism, can be used as a molecular biomarker to predict the development of GDM. These results should be supported by further research in larger sample sizes.
Biochemical and Biophysical Research Communications, 2018
Lung has critic function in gas exchange, supplying oxygen to all cells. Rapid metastasis and the... more Lung has critic function in gas exchange, supplying oxygen to all cells. Rapid metastasis and the high rate of mortality characterises lung cancer. There are two types of this disease, small cell and non-small cell, which differs from each other according to histopathologic features. To date, many therapeutic approaches have been developed to destroy this deadly type of cancer, which one of them is mRNA targeted therapies through miRNA. miRNAs are 19e25 base paired molecules be able to suppress and destruct mRNA and found to be involved in development and progression of lung cancer. Transmembrane Protein 48 (TMEM48) is localised on nuclear pore complex and plays critic roles in nuclear traffic. Known that TMEM48 gene overexpressed in non-small lung cancer cells. Growing TMEM48 suppressed therapeutic studies indicated that decreased TMEM48 level might reveal a therapeutic effect for non-small cell lung cancers. TMEM48 studies based on the same strategy of gene-silencing, however, to our knowledge, any report has been published evaluates TMEM48's regulation by miRNAs. We aimed to clarify if miR-421 might be therapeutic player for non-small cancer cell lines (A549), hereby we suppressed TMEM48 by miR-421 and performed advanced molecular tests. Consequently, we recorded that while miR-421 is significantly suppressing TMEM48 expression; it increased apoptotic and tumor suppressor players CASPASE 3, PTEN and TP53 in A549 line, which is consistent with Annexin V e PI results: 30,6% of A549 observed to be apoptotic-68,5% of A549 was in GO/G1. Our study indicated that miR-421 can suppress TMEM48 so that leads the cells to apoptosis. But it is not entirely clear how miR-421 triggers apoptosis and whether it interacts with the other cellular death pathways in A549.
Brazilian Journal of Medical and Biological Research, 2012
Polymorphisms of the p53 gene, which participates in DNA repair, can affect the functioning of th... more Polymorphisms of the p53 gene, which participates in DNA repair, can affect the functioning of the p53 protein. The Arg and Pro variants in p53 codon 72 were shown to have different regulation properties of p53-dependent DNA repair target genes that can affect various levels of cytogenetic aberrations in chronic hepatitis B patients. The present study aimed to examine the frequency of chromosomal aberrations and the mitotic index in patients with chronic hepatitis B and their possible association with p53 gene exon 4 codon 72 Arg72Pro (Ex4+119 G>C; rs1042522) polymorphism. Fifty-eight patients with chronic hepatitis B and 30 healthy individuals were genotyped in terms of the p53 gene codon 72 Arg72Pro polymorphism by PCR-RFLP. A 72-h cell culture was performed on the same individuals and evaluated in terms of chromosomal aberrations and mitotic index. A high frequency of chromosomal aberrations and low mitotic index were detected in the patient group compared to the control group. A higher frequency of chromosomal aberrations was detected in both the patient and the control groups with a homozygous proline genotype (13 patients, 3 control subjects) compared to patients and controls with other genotypes [Arg/Pro (38 patients, 20 control subjects) and Arg/Arg (7 patients, 7 control subjects)]. We observed an increased frequency of cytogenetic aberrations in patients with chronic hepatitis B. In addition, a higher frequency of cytogenetic aberrations was observed in p53 variants having the homozygous proline genotype compared to variants having other genotypes both in patients and healthy individuals.
Clinical and experimental obstetrics & gynecology, 2011
To investigate the indications of amniocentesis for the detection of chromosomal abnormalities am... more To investigate the indications of amniocentesis for the detection of chromosomal abnormalities among a sample of patients in Southeast Turkey. Between 2004 and 2007, 1,068 second-trimester amniocentesis tests were performed in the Medical Biology and Genetics Department Laboratory at Dicle University. Amniotic fluids were cultured by using long-term tissue culture for prenatal diagnosis with cytogenetic analysis. The clinical and cytogenetic findings on 1,068 second-trimester amniocenteses were analyzed. The indications, the proportions of karyotypes according to indications and complications were summarized. Among the 1,068 amniocentesis cases, the maternal age between 35 and 39 years was the most common age group (34.5%). Of the clinical indications abnormal maternal serum screening results were the most common indication for amniocentesis (37.6%). Of 52 cases (4.9%) with detected chromosomal aberrations, 39 were numeric (27 trisomies, 10 sex chromosome aberrations and two triploi...
Obstetrics & Gynecology Science, 2014
Objective Thromogenic gene mutations has been thought to be associated with recurrent pregnancy l... more Objective Thromogenic gene mutations has been thought to be associated with recurrent pregnancy loss in women in Turkey. The aim of this study was to investigate the prevalence of thromogenic gene mutations such as factor V Leiden (FVL, G1691T), prothrombin (G20210A), and the methylene tetrahydrofolate reductase (MTHFR, C677T) mutation in women with recurrent pregnancy loss. Methods This descriptive study was carried out in the Department of Obstetrics and Gynaecology, Harran University School of Medicine, and included a total of 1,507 women with histories of recurrent pregnancy loss between January 2010 and June 2013. The mutations were assessed by using the polymerase chain reaction. Results The homozygous mutation frequencies of FVL, prothrombin, and MTHFR were found to be 3 (0.20%), 0 and 125 (8.29%), and the heterozygous mutation frequencies were 83 (5.51%), 61 (4.05%), and 612 (40.61%), respectively. Among the 86 FVL mutation patients, 38 also had accompanying prothrombin and MTHFR mutations. Conclusion Since the homozygous forms of the FVL-prothrombin gene mutations have low incidences and MTHFR mutation is similar to a healthy population, preconceptional thromogenic gene mutations screening seems to be controversial.
Human Heredity, 1977
A familial balanced reciprocal translocation was ascertained through a female carrier whose last ... more A familial balanced reciprocal translocation was ascertained through a female carrier whose last three pregnancies ended in missed abortions. Five translocation carriers were detected in three generations among 9 family members investigated. The translocation could be the cause for the abortions of the proposita and her cousin's wife.
American Heart Journal, 2002
Background: The ACE gene has received substantial attention in recent years as candidate for a va... more Background: The ACE gene has received substantial attention in recent years as candidate for a variety of diseases. The most common polymorphism in ACE gene is the Insertion/Deletion (I/D, rs4646994) polymorphism located on intron 16. Aim: We investigated the association between metabolic syndrome (MS) and the insertion (I)-deletion (D) polymorphisms in the angiotensin converting enzyme (ACE) gene in southeast of Turkey. Subjects and methods: One hundred and sixty subjects, with 101 cases of MS and 59 age-and gender-matched healthy controls were included in the study. Results: The frequency of ACE I/D polymorphism was found to be 49.5% for DD, 36.6% for ID, and 13.9% for II in the MSstudy group and 44.1% for DD, 42.4% for ID and 13.5% for II in the control group. Allele frequencies were found to be 0.68% for D and 0.32% for I allele in the study group with MS and 0.65% for D, 0.35% for I allele in the control group. The I/D polymorphism of the ACE gene, DD, ID, and II genotypes occurred with similar frequencies in the study group with MS and the control group with no significant differences (p>0.05). On applying one-way analysis of variance to different ACE gene polymorphic groups in patients with MS were not significantly associated to ACE gene polymorphism and waist circumference, systolic blood pressure, diastolic blood pressure, fasting blood glucose, HDL, and LDL (p>0.05). Conclusions: Further studies of patients in larger numbers and of different ethnic backgrounds may be necessary to elucidate the association between the ACE I/D gene polymorphism and MS.
Biotechnology & Biotechnological Equipment, 2017
MicroRNAs (miRNAs) are small conserved non-coding RNA molecules that post-transcriptionally regul... more MicroRNAs (miRNAs) are small conserved non-coding RNA molecules that post-transcriptionally regulate gene expression. Although it is reported in many studies that there are associations between alterations of miRNA homeostasis and pathological conditions such as cancer, psychiatric and neurological diseases, cardiovascular disease and autoimmune disease, the effects of common genetic variants of these genes on male infertility are unclear. To better understand this effect, we performed a case-control study including a total of 108 infertile men with idiopathic azoospermia and 125 fertile control subjects. Real-time polymerase chain reaction was used to genotype six single-nucleotide polymorphisms (SNPs) of microRNA biogenesis pathway genes and the associations between individual and combined genotypes and idiopathic azoospermia were analysed. The results showed significant difference between the individual AA genotype frequency of the GEMIN3 (rs197388) gene in the patient and control groups, indicating that the AA genotype may be considered as indicative of a higher predisposition to idiopathic azoospermia. The combined genotype analysis, including six SNPs, revealed statistically significant differences between the patients and control subjects for some combinations. For example, the frequency of genotype distributions of the AA\CA-CC-TT-AT genotype combination for the XPO5-RAN-DICER1-GEMIN3 combined loci was significantly different, and it may be considered a predisposition to idiopathic azoospermia. According to the obtained results, both individual and combined genotypes of SNPs from miRNA genes may be used to predict the risk of male infertility with idiopathic azoospermia.
Objective: Gestational Diabetes Mellitus (GDM) is defined as a disease of glucose intolerance, wh... more Objective: Gestational Diabetes Mellitus (GDM) is defined as a disease of glucose intolerance, which is first identified in pregnancy. Transmembrane protein fibronectin type III domain-containing protein 5 (FNDC5) that is encoded by the FNDC5 gene has been demonstrated to be cleaved and released as a novel hormone-like myokine irisin. Irisin peptide, released from muscle cells, acting as a messenger between muscle and adipose tissue, has been known to play an important role in insulin resistance and energy metabolism regulation. In this study, it was aimed to investigate the effect of two polymorphisms (rs726344and rs16835198) in the Irisin (FNDC5) gene, which is known to have an effect on serum irisin level, and their relationship with Gestational Diabetes Mellitus (GDM). Methods: The study included 233 pregnanat subjects who applied to Harran University Medical Faculty Obstetrics and Gynecology Outpatient Clinic. The study population was divided into two groups; the first one is 110 subjects of the GDM group and the second one is 123 subjects of the control (Non-GDM subjects) group. 110 subjects of the first group, who diagnosed with GDM at the 24-28 gestational period, were chosen as the patient group according to the criteria of ADA (American Diabetes Association). DNA isolation was performed by using Genomic DNA isolation kit with spin column method from peripheral blood samples. Analysis of polymorphisms (rs16835198 and rs726344) of the FNDC5 gene of each subject was performed by using the Real-Time PCR. Two pairs of primers (forward and reverse) and two pairs of probes selected on the FNDC5 gene were synthesized according to sequence order and used to replicate genomic DNA in Real-Time PCR and the polymorphisms were genotyped by amplification curves gained from the RT-PCR results. Results: As a result of the analyzes made, statistically no significant difference was observed in the genotype distribution and allele frequency of FNDC5 gene G>A (rs726344) and rs16835198 G> T polymorphisms in GDM patient and control groups (p>0.05). Conclusions: As a result of this research, it was concluded that FNDC5 gene rs726344 and rs16835198 polymorphisms are not related to gestational diabetes mellitus.
Background and aim. In patients with Bipolar-I Disorder (BD-I), circadian rhythm and sleep disord... more Background and aim. In patients with Bipolar-I Disorder (BD-I), circadian rhythm and sleep disorders are frequently observed. Melatonin is a main regulatory hormone for the circadian rhythm. Certain studies have shown the relationship of melatonin receptor gene polymorphism with psychiatric diseases. In this study, it was aimed to investigate the relationship between BD-I and-184T > C (rs2119882) polymorphism in melatonin receptor 1A (MTNR1A) gene and-1193C > T (rs4753426) polymorphism in melatonin receptor 1B (MTNR1B) gene. Methods. The study included 108 patients diagnosed with BD-I and 95 healthy people as the control group. Real-time PCR (RT-PCR) method was used to evaluate the polymorphism of MTNR1A gene-184T > C. Genotyping of MTNR1B gene-1193C > T polymorphism was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results. In terms of MTNR1B gene-1193C > T polymorphism, homozygous CC genotype was found to be increased in BD-I patient group compared to the control group (p < 0.05). Similarly, a statistically significant difference was found between the patients and the control group in terms of allele frequencies too (p < 0.05). However, no relation between BD-I and MTNR1A gene-184T > C polymorphism was found (p > 0.05). Conclusion. The results of the study revealed that MTNR1B gene-1193C > T polymorphism may play a role in BD-I genetic etiology and may be among the causes of sleep disorder and circadian rhythm disorder seen in these patients.
Background: To determine the role of E-selectin gene S128R polymorphism on the enlargement of ren... more Background: To determine the role of E-selectin gene S128R polymorphism on the enlargement of renal cysts in patients with polycystic kidney disease (PKD). Materials and methods: 76 PKD patients with no comorbidity were enrolled in the study. Serum E-selectin levels were analyzed by enzyme-linked immunoabsorbent assay (ELISA). E-selectin gene S128R (561 A>C, rs: 5361) polymorphism was examined by polymerase chain reaction restriction fragment length (PCR-RFLP). Magnetic resonance imaging was performed at baseline evaluation and at the end of the 1 st year to determine cyst enlargement and total kidney volume (TKV). Results: No significant difference was identified between AA genotype and AC or CC variants of E-selectin gene S128R polymorphism in terms of age, disease duration, baseline cyst volume, cyst volume at the 12 th month, baseline dominant cyst volume, and dominant cyst volume at the 12 th month. In contrast, a significant difference was determined between the groups with regard to the change of TKV (2.9 ± 13.4 vs. 5.2 ± 16.3 mm 3 ; respectively, p = 0.01). In the correlation analysis, the serum E-selectin level was significantly correlated to glucose, alanine transaminase, creatinine, calcium, phosphorus, total protein, albumin, and end diastolic volume (p = 0.0001, p = 0.001, p = 0.03, p = 0.021, p = 0.023, p = 0.002, p = 0.003, and p = 0.047, respectively). Multivariate logistic regression analysis demonstrated a 1.32-fold higher risk of cyst enlargement in patients with CC polymorphism when compared to AA genotype (p = 0.052), but not between AA and AC genotypes or CC and AC genotypes. Conclusion: PKD patients with CC variants of the E-selectin gene S128R polymorphism are at greater risk of cyst enlargement. The results of the present study should be confirmed with further studies with large sample size and longer duration of follow-up.
Insulin resistance plays a central role in the development of gestational diabetes mellitus (GDM)... more Insulin resistance plays a central role in the development of gestational diabetes mellitus (GDM). The fetuin A molecule, of which serum level increases during pregnancy, is an inhibitor of insulin receptor tyrosine kinase and it is associated with insulin resistance. The aim of this study is to research the relationship of-843A>T (rs2248690) and 767C>G (rs4918) polymorphisms in the alpha-2-Heremans Schmid glycoprotein (AHSG) gene which is responsible for the synthesis of fetuin A and its association with (GDM). In this study, 83 pregnant women with GDM who applied to the Obstetrics and Gynaecology Clinics and 100 normal pregnants enrolled as the control group. Genotyping of AHSG gene polymorphisms was performed by using the TaqMan allelic discrimination kit with real time PCR device. In our study, homozygous GG genotype which was polymorphic in the 767C>G polymorphism of AHSG gene was found significantly low in the patient group (p < .05). Genotype distribution of AHSG gene-843A>T polymorphism was not statistically significant between the patient and control groups (p > .05). Our results showed that homozygous GG variant of AHSG gene 767C>G polymorphism may have protective effect against the development of GDM. IMPACT STATEMENT What is already known on this subject? Insulin resistance has a central role in the development of gestational diabetes mellitus (GDM). The fetuin A molecule is an inhibitor of insulin receptor tyrosine kinase and it is associated with insulin resistance. The-843T>A and 767G>C polymorphisms of AHSG gene encoding fetuin A are affects serum fetuin A level. In a single study investigating the relationship between GDM and AHSG gene 767G>C polymorphism, there was no significant difference in genotype distribution but it was reported that the frequency of G allele increased in GDM group and this increase provided a weak risk or predisposition. What the results of this study add? The present study revealed that homozygous GG variant of AHSG gene 767C>G polymorphism may decrease the risk of GDM. What the implications are of these findings for clinical practice and/or further research? Protective effect of homozygous GG variant of AHSG gene 767C>G polymorphism, can be used as a molecular biomarker to predict the development of GDM. These results should be supported by further research in larger sample sizes.
Cell Biochemistry and Function, 2007
Rats depleted in long‐chain polyunsaturated ω3 fatty acids (ω3‐depleted rats) display several fea... more Rats depleted in long‐chain polyunsaturated ω3 fatty acids (ω3‐depleted rats) display several features of the metabolic syndrome including hypertension and cardiac hypertrophy. This coincides with alteration of the cardiac muscle phospholipid and triacylglycerol fatty acid content and/or pattern. In the present study, the latter variables were measured in the cardiac endothelium of normal and ω3‐depleted rats. Samples derived from four rats each were obtained from 16 female normal fed rats and three groups of 36–40 female fed ω3‐depleted rats each aged 8–9, 15–16 and 22–23 weeks. At comparable mean age, the ratio between the square root of the total fatty acid content of phospholipids and cubic root of the total fatty acid content of triacylglycerols was lower in ω3‐depleted rats than in control animals. The total fatty acid content of triacylglycerols was inversely related to their relative content in C20:4ω6. Other differences between ω3‐depleted rats and control animals consisted...
Angiology, 2011
There are conflicting reports about the association of endothelial nitric oxide synthase (eNOS) g... more There are conflicting reports about the association of endothelial nitric oxide synthase (eNOS) gene polymorphism and the risk of coronary artery disease (CAD). To determine the frequency of eNOS G894T variant and to find the possible association between this polymorphism with CAD we studied 207 unrelated patients with total CAD (with and without diabetes) and 92 controls. The eNOS variants were detected by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP). The presence of GT + TT genotype was associated with 2.1-fold ( P = .006), 2.29-fold ( P = .006), and 1.93-fold ( P = .032) increased risk of CAD in total CAD, CAD with diabetes, and in CAD without diabetes patients, respectively. The presence of T allele of eNOS increased the risk of CAD 2.15-fold ( P = .001). The levels of low-density lipoprotein cholesterol (LDL-C) and triglycerides (TG) tended to be higher in patients carrier for T allele compared to those with G allele. The results of present stud...
Clinical Nephrology, Feb 1, 2014
AIM Gestational diabetes mellitus (GDM) is a glucose intolerant condition that affects 14% of all... more AIM Gestational diabetes mellitus (GDM) is a glucose intolerant condition that affects 14% of all pregnancies. Diabetes mellitus (DM) occurs in 30 - 70% of patients with GDM after delivery. DM and GDM are associated with structural and functional deterioration of the renovascular system. Our aim is to investigate the association Glu- 298Asp polymorphism of the endothelial nitric oxide synthase (eNOS) gene with serum nitric oxide levels and microalbuminuria in patients with GDM and healthy pregnancies. MATERIAL AND METHODS Serum nitric oxide (NO) levels, urinary excretion of albumin and Glu298Asp polymorphism of the eNOS gene were analyzed in 68 patients with GDM and 73 healthy controls. High performance liquid chromatography (HPLC-Griess) method was used to analyze serum NO levels. Microalbuminuria was evaluated by rate nephelometry method. The Glu298Asp polymorphism of the eNOS gene was determined by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). RESULTS Nitric oxide, glucose, creatinine, and microalbuminuria were significantly different between the patients and the control subjects (p = 0.001, p = 0.001, p = 0.002, and p = 0.005, respectively). There was a significant difference between groups in terms of the ratio of GG/GT+TT of eNOS gene Glu- 298Asp (p = 0.02). The patients with GT+TT genotype had significantly higher microalbuminuria levels and lower NO concentrations (22.16 vs. 9.51, p = 0.005, and 10.56 vs. 12.73, p = 0.021, respectively). The presence of T allele of eNOS gene is an independent predictor of microalbuminuria (OR: 2.346, 95% confidence interval: 1.247 - 5.238, p = 0.02) as well as serum glucose and NO concentration. CONCLUSION The G894T polymorphism of eNOS gene and decreased NO concentration seem to be independent predictors of increased urinary excretion of albumin in patients with GDM. Determining the frequency of eNOS gene G894T polymorphism may help to identify pregnancies at increased risk of microalbuminuria.
Comparative Biochemistry and Physiology B, Jun 1, 2002
Rats depleted in long-chain polyunsaturated v3 fatty acids (v3-depleted rats) display several fea... more Rats depleted in long-chain polyunsaturated v3 fatty acids (v3-depleted rats) display several features of the metabolic syndrome including hypertension and cardiac hypertrophy. This coincides with alteration of the cardiac muscle phospholipid and triacylglycerol fatty acid content and/or pattern. In the present study, the latter variables were measured in the cardiac endothelium of normal and v3-depleted rats. Samples derived from four rats each were obtained from 16 female normal fed rats and three groups of 36-40 female fed v3-depleted rats each aged 8-9, 15-16 and 22-23 weeks. At comparable mean age, the ratio between the square root of the total fatty acid content of phospholipids and cubic root of the total fatty acid content of triacylglycerols was lower in v3-depleted rats than in control animals. The total fatty acid content of triacylglycerols was inversely related to their relative content in C20:4v6. Other differences between v3-depleted rats and control animals consisted in a lower content of long-chain polyunsaturated v3 fatty acids in both phospholipids and triacylglycerols, higher content of long-chain polyunsaturated v6 fatty acids in phospholipids, higher activity of D9-desaturase (C16:0/C16:1v7 and C18:0/C18:1v9 ratios) and elongase [(C16:0 þ C16:1v7)/(C18:0 þ C18:1v9) and C20:4v6/C22:4v6 ratios], but impaired generation of C22:6v3 from C22:5v3 in the former rats. These findings support the view that cardiovascular perturbations previously documented in the v3-depleted rats may involve impaired heart endothelial function.
Annals of Dermatology, 2014
Background: Vitiligo is an autoimmune polygenic disorder characterized by loss of pigmentation du... more Background: Vitiligo is an autoimmune polygenic disorder characterized by loss of pigmentation due to melanocyte destruction. The PTPN22 gene +1858 C>T single nucleotide polymorphism (rs2476601) has been shown to be associated with various autoimmune disorders. Objective: The aim of this study was to investigate whether the PTPN22 gene +1858 C>T single nucleotide polymorphism is associated with susceptibility to generalized vitiligo in a Turkish population. Methods: One hundred and seven patients with generalized vitiligo, and one hundred and twelve gender-, age-, and ethnic-matched controls were enrolled in the study. Genotyping was done by polymerase chain reaction-restriction fragment length polymorphism. Results: The PTPN22 +1858 C>T genotype and allele frequencies of the generalized vitiligo patients did not differ significantly from those of healthy controls. Conclusion: We found no association between the PTPN22 +1858 C>T gene polymorphism and vitiligo susceptibility in Turkish generalizedvitiligo patients. (Ann Dermatol 26(1) 88∼91, 2014
Journal of gynecology obstetrics and human reproduction, Mar 1, 2019
Habitual abortion (HA) is defined at least three consecutive pregnancy losses. One of the etiolog... more Habitual abortion (HA) is defined at least three consecutive pregnancy losses. One of the etiologic causes is parental chromosomal anomalies. In this study, we aimed to that investigate the effect of parental chromosomal abnormalities on HA. Methods: The cytogenetic results of patients with at least three abortions referred to our university hospital between January 2010-March 2017 were evaluated. A total of 1154 couples with HA were analysed. Peripheral lymphocyte cultures incubated for 72 h were used for karyotype analysis via the Giemsa banding technique. Results: Of a total 1154 couples (2308 patients) 37 female (3.2%) and 17 male (1.47%) had abnormal karyotypes. Reciprocal translocation carriage (n = 26; 1.12%) was the most commonly detected structural anomaly, followed by X chromosome mosaicism (n = 16; 0.69%),Robertsoniantranslocation (n = 9; 0.38%), Chromosomal inversion (n = 6; 0.26%). Chromosomal polymorphisms, which are considered minor chromosomal changes, were detected in 221 (9.57%) individuals. Conclusion: Our study exhibits that chromosomal analysis in patient with HA is an appropriate approach to elucidate the aetiology of HA. Data from cytogenetic screening can be used in guiding couples planning future pregnancies and in prenatal diagnosis of chromosomal anomalies in the foetus.
Journal of Obstetrics and Gynaecology, 2019
Abstract Insulin resistance plays a central role in the development of gestational diabetes melli... more Abstract Insulin resistance plays a central role in the development of gestational diabetes mellitus (GDM). The fetuin A molecule, of which serum level increases during pregnancy, is an inhibitor of insulin receptor tyrosine kinase and it is associated with insulin resistance. The aim of this study is to research the relationship of –843A>T (rs2248690) and 767C>G (rs4918) polymorphisms in the alpha-2-Heremans Schmid glycoprotein (AHSG) gene which is responsible for the synthesis of fetuin A and its association with (GDM). In this study, 83 pregnant women with GDM who applied to the Obstetrics and Gynaecology Clinics and 100 normal pregnants enrolled as the control group. Genotyping of AHSG gene polymorphisms was performed by using the TaqMan allelic discrimination kit with real time PCR device. In our study, homozygous GG genotype which was polymorphic in the 767C>G polymorphism of AHSG gene was found significantly low in the patient group (p < .05). Genotype distribution of AHSG gene –843A>T polymorphism was not statistically significant between the patient and control groups (p > .05). Our results showed that homozygous GG variant of AHSG gene 767C>G polymorphism may have protective effect against the development of GDM. Impact statement What is already known on this subject? Insulin resistance has a central role in the development of gestational diabetes mellitus (GDM). The fetuin A molecule is an inhibitor of insulin receptor tyrosine kinase and it is associated with insulin resistance. The –843T>A and 767G>C polymorphisms of AHSG gene encoding fetuin A are affects serum fetuin A level. In a single study investigating the relationship between GDM and AHSG gene 767G>C polymorphism, there was no significant difference in genotype distribution but it was reported that the frequency of G allele increased in GDM group and this increase provided a weak risk or predisposition. What the results of this study add? The present study revealed that homozygous GG variant of AHSG gene 767C>G polymorphism may decrease the risk of GDM. What the implications are of these findings for clinical practice and/or further research? Protective effect of homozygous GG variant of AHSG gene 767C>G polymorphism, can be used as a molecular biomarker to predict the development of GDM. These results should be supported by further research in larger sample sizes.
Biochemical and Biophysical Research Communications, 2018
Lung has critic function in gas exchange, supplying oxygen to all cells. Rapid metastasis and the... more Lung has critic function in gas exchange, supplying oxygen to all cells. Rapid metastasis and the high rate of mortality characterises lung cancer. There are two types of this disease, small cell and non-small cell, which differs from each other according to histopathologic features. To date, many therapeutic approaches have been developed to destroy this deadly type of cancer, which one of them is mRNA targeted therapies through miRNA. miRNAs are 19e25 base paired molecules be able to suppress and destruct mRNA and found to be involved in development and progression of lung cancer. Transmembrane Protein 48 (TMEM48) is localised on nuclear pore complex and plays critic roles in nuclear traffic. Known that TMEM48 gene overexpressed in non-small lung cancer cells. Growing TMEM48 suppressed therapeutic studies indicated that decreased TMEM48 level might reveal a therapeutic effect for non-small cell lung cancers. TMEM48 studies based on the same strategy of gene-silencing, however, to our knowledge, any report has been published evaluates TMEM48's regulation by miRNAs. We aimed to clarify if miR-421 might be therapeutic player for non-small cancer cell lines (A549), hereby we suppressed TMEM48 by miR-421 and performed advanced molecular tests. Consequently, we recorded that while miR-421 is significantly suppressing TMEM48 expression; it increased apoptotic and tumor suppressor players CASPASE 3, PTEN and TP53 in A549 line, which is consistent with Annexin V e PI results: 30,6% of A549 observed to be apoptotic-68,5% of A549 was in GO/G1. Our study indicated that miR-421 can suppress TMEM48 so that leads the cells to apoptosis. But it is not entirely clear how miR-421 triggers apoptosis and whether it interacts with the other cellular death pathways in A549.
Brazilian Journal of Medical and Biological Research, 2012
Polymorphisms of the p53 gene, which participates in DNA repair, can affect the functioning of th... more Polymorphisms of the p53 gene, which participates in DNA repair, can affect the functioning of the p53 protein. The Arg and Pro variants in p53 codon 72 were shown to have different regulation properties of p53-dependent DNA repair target genes that can affect various levels of cytogenetic aberrations in chronic hepatitis B patients. The present study aimed to examine the frequency of chromosomal aberrations and the mitotic index in patients with chronic hepatitis B and their possible association with p53 gene exon 4 codon 72 Arg72Pro (Ex4+119 G>C; rs1042522) polymorphism. Fifty-eight patients with chronic hepatitis B and 30 healthy individuals were genotyped in terms of the p53 gene codon 72 Arg72Pro polymorphism by PCR-RFLP. A 72-h cell culture was performed on the same individuals and evaluated in terms of chromosomal aberrations and mitotic index. A high frequency of chromosomal aberrations and low mitotic index were detected in the patient group compared to the control group. A higher frequency of chromosomal aberrations was detected in both the patient and the control groups with a homozygous proline genotype (13 patients, 3 control subjects) compared to patients and controls with other genotypes [Arg/Pro (38 patients, 20 control subjects) and Arg/Arg (7 patients, 7 control subjects)]. We observed an increased frequency of cytogenetic aberrations in patients with chronic hepatitis B. In addition, a higher frequency of cytogenetic aberrations was observed in p53 variants having the homozygous proline genotype compared to variants having other genotypes both in patients and healthy individuals.
Clinical and experimental obstetrics & gynecology, 2011
To investigate the indications of amniocentesis for the detection of chromosomal abnormalities am... more To investigate the indications of amniocentesis for the detection of chromosomal abnormalities among a sample of patients in Southeast Turkey. Between 2004 and 2007, 1,068 second-trimester amniocentesis tests were performed in the Medical Biology and Genetics Department Laboratory at Dicle University. Amniotic fluids were cultured by using long-term tissue culture for prenatal diagnosis with cytogenetic analysis. The clinical and cytogenetic findings on 1,068 second-trimester amniocenteses were analyzed. The indications, the proportions of karyotypes according to indications and complications were summarized. Among the 1,068 amniocentesis cases, the maternal age between 35 and 39 years was the most common age group (34.5%). Of the clinical indications abnormal maternal serum screening results were the most common indication for amniocentesis (37.6%). Of 52 cases (4.9%) with detected chromosomal aberrations, 39 were numeric (27 trisomies, 10 sex chromosome aberrations and two triploi...
Obstetrics & Gynecology Science, 2014
Objective Thromogenic gene mutations has been thought to be associated with recurrent pregnancy l... more Objective Thromogenic gene mutations has been thought to be associated with recurrent pregnancy loss in women in Turkey. The aim of this study was to investigate the prevalence of thromogenic gene mutations such as factor V Leiden (FVL, G1691T), prothrombin (G20210A), and the methylene tetrahydrofolate reductase (MTHFR, C677T) mutation in women with recurrent pregnancy loss. Methods This descriptive study was carried out in the Department of Obstetrics and Gynaecology, Harran University School of Medicine, and included a total of 1,507 women with histories of recurrent pregnancy loss between January 2010 and June 2013. The mutations were assessed by using the polymerase chain reaction. Results The homozygous mutation frequencies of FVL, prothrombin, and MTHFR were found to be 3 (0.20%), 0 and 125 (8.29%), and the heterozygous mutation frequencies were 83 (5.51%), 61 (4.05%), and 612 (40.61%), respectively. Among the 86 FVL mutation patients, 38 also had accompanying prothrombin and MTHFR mutations. Conclusion Since the homozygous forms of the FVL-prothrombin gene mutations have low incidences and MTHFR mutation is similar to a healthy population, preconceptional thromogenic gene mutations screening seems to be controversial.
Human Heredity, 1977
A familial balanced reciprocal translocation was ascertained through a female carrier whose last ... more A familial balanced reciprocal translocation was ascertained through a female carrier whose last three pregnancies ended in missed abortions. Five translocation carriers were detected in three generations among 9 family members investigated. The translocation could be the cause for the abortions of the proposita and her cousin's wife.
American Heart Journal, 2002
Background: The ACE gene has received substantial attention in recent years as candidate for a va... more Background: The ACE gene has received substantial attention in recent years as candidate for a variety of diseases. The most common polymorphism in ACE gene is the Insertion/Deletion (I/D, rs4646994) polymorphism located on intron 16. Aim: We investigated the association between metabolic syndrome (MS) and the insertion (I)-deletion (D) polymorphisms in the angiotensin converting enzyme (ACE) gene in southeast of Turkey. Subjects and methods: One hundred and sixty subjects, with 101 cases of MS and 59 age-and gender-matched healthy controls were included in the study. Results: The frequency of ACE I/D polymorphism was found to be 49.5% for DD, 36.6% for ID, and 13.9% for II in the MSstudy group and 44.1% for DD, 42.4% for ID and 13.5% for II in the control group. Allele frequencies were found to be 0.68% for D and 0.32% for I allele in the study group with MS and 0.65% for D, 0.35% for I allele in the control group. The I/D polymorphism of the ACE gene, DD, ID, and II genotypes occurred with similar frequencies in the study group with MS and the control group with no significant differences (p>0.05). On applying one-way analysis of variance to different ACE gene polymorphic groups in patients with MS were not significantly associated to ACE gene polymorphism and waist circumference, systolic blood pressure, diastolic blood pressure, fasting blood glucose, HDL, and LDL (p>0.05). Conclusions: Further studies of patients in larger numbers and of different ethnic backgrounds may be necessary to elucidate the association between the ACE I/D gene polymorphism and MS.
Biotechnology & Biotechnological Equipment, 2017
MicroRNAs (miRNAs) are small conserved non-coding RNA molecules that post-transcriptionally regul... more MicroRNAs (miRNAs) are small conserved non-coding RNA molecules that post-transcriptionally regulate gene expression. Although it is reported in many studies that there are associations between alterations of miRNA homeostasis and pathological conditions such as cancer, psychiatric and neurological diseases, cardiovascular disease and autoimmune disease, the effects of common genetic variants of these genes on male infertility are unclear. To better understand this effect, we performed a case-control study including a total of 108 infertile men with idiopathic azoospermia and 125 fertile control subjects. Real-time polymerase chain reaction was used to genotype six single-nucleotide polymorphisms (SNPs) of microRNA biogenesis pathway genes and the associations between individual and combined genotypes and idiopathic azoospermia were analysed. The results showed significant difference between the individual AA genotype frequency of the GEMIN3 (rs197388) gene in the patient and control groups, indicating that the AA genotype may be considered as indicative of a higher predisposition to idiopathic azoospermia. The combined genotype analysis, including six SNPs, revealed statistically significant differences between the patients and control subjects for some combinations. For example, the frequency of genotype distributions of the AA\CA-CC-TT-AT genotype combination for the XPO5-RAN-DICER1-GEMIN3 combined loci was significantly different, and it may be considered a predisposition to idiopathic azoospermia. According to the obtained results, both individual and combined genotypes of SNPs from miRNA genes may be used to predict the risk of male infertility with idiopathic azoospermia.
Objective: Gestational Diabetes Mellitus (GDM) is defined as a disease of glucose intolerance, wh... more Objective: Gestational Diabetes Mellitus (GDM) is defined as a disease of glucose intolerance, which is first identified in pregnancy. Transmembrane protein fibronectin type III domain-containing protein 5 (FNDC5) that is encoded by the FNDC5 gene has been demonstrated to be cleaved and released as a novel hormone-like myokine irisin. Irisin peptide, released from muscle cells, acting as a messenger between muscle and adipose tissue, has been known to play an important role in insulin resistance and energy metabolism regulation. In this study, it was aimed to investigate the effect of two polymorphisms (rs726344and rs16835198) in the Irisin (FNDC5) gene, which is known to have an effect on serum irisin level, and their relationship with Gestational Diabetes Mellitus (GDM). Methods: The study included 233 pregnanat subjects who applied to Harran University Medical Faculty Obstetrics and Gynecology Outpatient Clinic. The study population was divided into two groups; the first one is 110 subjects of the GDM group and the second one is 123 subjects of the control (Non-GDM subjects) group. 110 subjects of the first group, who diagnosed with GDM at the 24-28 gestational period, were chosen as the patient group according to the criteria of ADA (American Diabetes Association). DNA isolation was performed by using Genomic DNA isolation kit with spin column method from peripheral blood samples. Analysis of polymorphisms (rs16835198 and rs726344) of the FNDC5 gene of each subject was performed by using the Real-Time PCR. Two pairs of primers (forward and reverse) and two pairs of probes selected on the FNDC5 gene were synthesized according to sequence order and used to replicate genomic DNA in Real-Time PCR and the polymorphisms were genotyped by amplification curves gained from the RT-PCR results. Results: As a result of the analyzes made, statistically no significant difference was observed in the genotype distribution and allele frequency of FNDC5 gene G>A (rs726344) and rs16835198 G> T polymorphisms in GDM patient and control groups (p>0.05). Conclusions: As a result of this research, it was concluded that FNDC5 gene rs726344 and rs16835198 polymorphisms are not related to gestational diabetes mellitus.
Background and aim. In patients with Bipolar-I Disorder (BD-I), circadian rhythm and sleep disord... more Background and aim. In patients with Bipolar-I Disorder (BD-I), circadian rhythm and sleep disorders are frequently observed. Melatonin is a main regulatory hormone for the circadian rhythm. Certain studies have shown the relationship of melatonin receptor gene polymorphism with psychiatric diseases. In this study, it was aimed to investigate the relationship between BD-I and-184T > C (rs2119882) polymorphism in melatonin receptor 1A (MTNR1A) gene and-1193C > T (rs4753426) polymorphism in melatonin receptor 1B (MTNR1B) gene. Methods. The study included 108 patients diagnosed with BD-I and 95 healthy people as the control group. Real-time PCR (RT-PCR) method was used to evaluate the polymorphism of MTNR1A gene-184T > C. Genotyping of MTNR1B gene-1193C > T polymorphism was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results. In terms of MTNR1B gene-1193C > T polymorphism, homozygous CC genotype was found to be increased in BD-I patient group compared to the control group (p < 0.05). Similarly, a statistically significant difference was found between the patients and the control group in terms of allele frequencies too (p < 0.05). However, no relation between BD-I and MTNR1A gene-184T > C polymorphism was found (p > 0.05). Conclusion. The results of the study revealed that MTNR1B gene-1193C > T polymorphism may play a role in BD-I genetic etiology and may be among the causes of sleep disorder and circadian rhythm disorder seen in these patients.
Background: To determine the role of E-selectin gene S128R polymorphism on the enlargement of ren... more Background: To determine the role of E-selectin gene S128R polymorphism on the enlargement of renal cysts in patients with polycystic kidney disease (PKD). Materials and methods: 76 PKD patients with no comorbidity were enrolled in the study. Serum E-selectin levels were analyzed by enzyme-linked immunoabsorbent assay (ELISA). E-selectin gene S128R (561 A>C, rs: 5361) polymorphism was examined by polymerase chain reaction restriction fragment length (PCR-RFLP). Magnetic resonance imaging was performed at baseline evaluation and at the end of the 1 st year to determine cyst enlargement and total kidney volume (TKV). Results: No significant difference was identified between AA genotype and AC or CC variants of E-selectin gene S128R polymorphism in terms of age, disease duration, baseline cyst volume, cyst volume at the 12 th month, baseline dominant cyst volume, and dominant cyst volume at the 12 th month. In contrast, a significant difference was determined between the groups with regard to the change of TKV (2.9 ± 13.4 vs. 5.2 ± 16.3 mm 3 ; respectively, p = 0.01). In the correlation analysis, the serum E-selectin level was significantly correlated to glucose, alanine transaminase, creatinine, calcium, phosphorus, total protein, albumin, and end diastolic volume (p = 0.0001, p = 0.001, p = 0.03, p = 0.021, p = 0.023, p = 0.002, p = 0.003, and p = 0.047, respectively). Multivariate logistic regression analysis demonstrated a 1.32-fold higher risk of cyst enlargement in patients with CC polymorphism when compared to AA genotype (p = 0.052), but not between AA and AC genotypes or CC and AC genotypes. Conclusion: PKD patients with CC variants of the E-selectin gene S128R polymorphism are at greater risk of cyst enlargement. The results of the present study should be confirmed with further studies with large sample size and longer duration of follow-up.
Insulin resistance plays a central role in the development of gestational diabetes mellitus (GDM)... more Insulin resistance plays a central role in the development of gestational diabetes mellitus (GDM). The fetuin A molecule, of which serum level increases during pregnancy, is an inhibitor of insulin receptor tyrosine kinase and it is associated with insulin resistance. The aim of this study is to research the relationship of-843A>T (rs2248690) and 767C>G (rs4918) polymorphisms in the alpha-2-Heremans Schmid glycoprotein (AHSG) gene which is responsible for the synthesis of fetuin A and its association with (GDM). In this study, 83 pregnant women with GDM who applied to the Obstetrics and Gynaecology Clinics and 100 normal pregnants enrolled as the control group. Genotyping of AHSG gene polymorphisms was performed by using the TaqMan allelic discrimination kit with real time PCR device. In our study, homozygous GG genotype which was polymorphic in the 767C>G polymorphism of AHSG gene was found significantly low in the patient group (p < .05). Genotype distribution of AHSG gene-843A>T polymorphism was not statistically significant between the patient and control groups (p > .05). Our results showed that homozygous GG variant of AHSG gene 767C>G polymorphism may have protective effect against the development of GDM. IMPACT STATEMENT What is already known on this subject? Insulin resistance has a central role in the development of gestational diabetes mellitus (GDM). The fetuin A molecule is an inhibitor of insulin receptor tyrosine kinase and it is associated with insulin resistance. The-843T>A and 767G>C polymorphisms of AHSG gene encoding fetuin A are affects serum fetuin A level. In a single study investigating the relationship between GDM and AHSG gene 767G>C polymorphism, there was no significant difference in genotype distribution but it was reported that the frequency of G allele increased in GDM group and this increase provided a weak risk or predisposition. What the results of this study add? The present study revealed that homozygous GG variant of AHSG gene 767C>G polymorphism may decrease the risk of GDM. What the implications are of these findings for clinical practice and/or further research? Protective effect of homozygous GG variant of AHSG gene 767C>G polymorphism, can be used as a molecular biomarker to predict the development of GDM. These results should be supported by further research in larger sample sizes.