A. Tetİk - Academia.edu (original) (raw)

Papers by A. Tetİk

Biküspit aort kapak ve asendan aort anevrizmalı olgularda matriks metalloproteinaz gen polimorfiz... more Biküspit aort kapak ve asendan aort anevrizmalı olgularda matriks metalloproteinaz gen polimorfizminin literatür eşliğinde değerlendirilmesi Literature-based evaluation of matrix metalloproteinase gene polymorphisms in patients with the bicuspid aortic valve and ascending aortic aneurysm patients Özet Biküspit aort kapak (BAK) en sık konjenital kalp malformasyonudur ve popülasyonun %1-2'sinde görülür. Bu patolojinin aort kapak hastalığı, torasik aort dilatasyonu (TAD) veya anevrizması (TAA) gelişimini kolaylaştırdığı çalışmalarda gösterilmiştir. Matriks metalloproteinazlar (MMP), aort duvarından lökositler ve yumuşak kas hücreleri tarafından üretilen çinko bağımlı endopeptidaz ailesidir ve aortun bütününde yer alan elastin, kollajen ve diğer proteinlerin degredasyonundan sorumludur. TAA gelişiminde MMP'lerin rolüne ilişkin çalışmalar yayınlanmıştır. Biz bu yazıda biküspit aort kapakla birlikte asendan aort anevrizması olan hastalarda MMP2 ve MMP9 gen polimorfizmini sunmayı amaçladık. Anahtar Kelimeler: Biküspit aort kapak, anevrizma, MMP 2 , MMP 9 , polimorfizm. Abstract Bicuspid aortic valve (BAV) is the most common congenital heart malformation and seen approximately 1-2% of population. It has been shown that this pathological condition has facilitated the development of aortic valve disease, thoracic aortic dilatation (TAD) or aneurysm (TAA) in the studies. Matrix metalloproteinases (MMP) are zinc-dependent endopeptidase family which produced by leukocytes and smooth muscle cells in the aortic wall and responsible for the degradation of elastin, collagen and other proteins located in the whole aorta. To date there are several studies have been published about investigating the role of MMPs in the development of TAA. We aim to provide the effects of the MMP2 and MMP9 gene polymorphisms on development of the disease in patients with ascending aorta aneurysm and bicuspid aortic valve in this paper.

Genetic Testing and Molecular Biomarkers, 2013

Evidence arising from experimental studies indicates an association between increased levels of t... more Evidence arising from experimental studies indicates an association between increased levels of the growth hormone/insulin-like growth factor 1 and oxidative stress. The association of the Ser326Cys polymorphism in the 8-oxoguanine glycosylase (OGG1) gene with a colon carcinoma and diabetes mellitus has been examined. The aim of the study was to compare the genotypic distribution of OGG1 Ser326Cys between acromegaly patients and nonacromegalic subjects and to explore whether this polymorphism is associated with a colon polyp risk and abnormal glucose tolerance. We examined 98 acromegaly patients, and 99 healthy subjects who can be compared in terms of age and gender. All participants were evaluated by anthropometric and biochemical measurements. Also, a 75-g oral glucose test and colonoscopy was applied to the patients. Genomic DNA was isolated from peripheral blood leucocytes and the genotype was assessed by melting temperature analyses after using a real-time polymerase chain reaction protocol. Colon polyps were detected in 13 (30.2%) of 43 patients who underwent the colonoscopy. Except for diastolic blood pressure, clinical and biochemical characteristics were similar between the patients diagnosed with and without a colon polyp. A higher proportion of acromegaly patients had the Ser326Ser genotype when compared to the control group (p=0.007). Genotypes were similar between the patients with a normal glucose tolerance and an abnormal glucose tolerance (p=0.774). The frequency of the Cys allele was significantly higher in patients with polyps than those without a polyp (38.5% vs. 18.3%) (p=0.029). Our results suggest that the Cys allele may influence the colon polyp risk in acromegaly patients. Large-scale studies with acromegaly patients are required to show whether being a carrier of the Cys allele is associated with the risk of a colorectal polyp.

Anadolu Kardiyoloji Dergisi/The Anatolian Journal of Cardiology, 2014

Journal of Diabetes and its Complications, 2008

Objective: Recent studies have suggested an association between a deletion variant of the angiote... more Objective: Recent studies have suggested an association between a deletion variant of the angiotensin-converting enzyme (ACE) gene and diabetic nephropathy. However, this finding has not been confirmed by all investigators. Furthermore, an M235T variant of the angiotensinogen (AGT) gene has been associated with hypertension, an important risk factor for the development and progression of diabetic nephropathy. Research Design and Methods: We investigated the relationship of the ACE insertion/deletion (I/D) and AGT M235T gene polymorphisms in Turkish patients with type 2 diabetes mellitus (DM) with and without diabetic nephropathy. A total of 102 individuals were screened for the presence of the ACE I/D and AGT M235T polymorphism: 46 individuals who had type 2 DM with diabetic nephropathy and, as controls, 56 individuals who had type 2 DM without diabetic nephropathy. Gene polymorphisms were determined by the specific melting temperature (T m ) values of the resulting amplicons after real-time online polymerase chain reaction and melting curve analysis. Results: The frequencies of the ACE DD, ID, and II genotypes were 34.8%, 37.0%, and 28.3%, respectively, among type 2 diabetic patients with nephropathy, and 33.9%, 42.9%, 23.2%, respectively ( P=.788), in the control subjects without diabetic nephropathy. On the other hand, the frequencies of the AGT MM, MT, and TT genotypes among the same groups were 26.1%, 52.2%, 21.7% and 26.8%, 57.1%, 16.1%, respectively ( P=.758). Conclusions: There were no differences in the frequencies of the AGT M235T and ACE I/D genotypes between Turkish patients with type 2 DM with and without nephropathy. D

Journal of Assisted Reproduction and Genetics, 2009

Purpose Dyslipidemia, cardiovascular disease and hypertension are more frequently seen in patient... more Purpose Dyslipidemia, cardiovascular disease and hypertension are more frequently seen in patients with PCOS than in normal patients. We aimed at evaluating the distribution of Apo E alleles that can influence cardiovascular risk of the PCOS patients and control subjects. Methods In this study, 129 young women with PCOS and 91 healthy women were included. In all subjects we performed hormonal, biochemical and Apo E genetic analysis. Results The Apo E3 allele was found at a significantly higher frequency in the PCOS patient group compared with the control group. The Apo E2 allele was found at a significantly higher frequency in the control group compared with the patient group with PCOS. Conclusions Although there were genotype and allele differences between control and patient groups in this study, no statistically significant change was determined in lipid and other cardiovascular risk factors in connection with allele and genotype.

Journal of Cardiovascular Electrophysiology, 2008

Genetics and Idiopathic Ventricular Arrhythmias. Introduction: Idiopathic ventricular arrhythmias... more Genetics and Idiopathic Ventricular Arrhythmias. Introduction: Idiopathic ventricular arrhythmias commonly refer to ventricular tachycardia (VT) and/or frequent/monomorphic premature ventricular contractions (PVC) in patients with structurally normal heart. Activation of sympathetic tone has been shown to play an important role in the provocation and maintenance of these arrhythmias. We investigated whether common single nucleotide polymorphisms in the β 1 and β 2 -adrenergic receptors are associated with idiopathic ventricular arrhythmias.

Cell Biology International, 2013

The efficacies of chemotherapeutic agents are often limited by side effects and acquired drug res... more The efficacies of chemotherapeutic agents are often limited by side effects and acquired drug resistance. We have investigated whether the differential expression pattern of 14-3-3s affects cisplatin response in non-small cell lung cancer cell lines. Two pairs of parental/cisplatin resistant cell lines (A549/CRA549 and Calu1/CR-Calu1) and clinical lung cancer biopsy samples were analysed for 14-3-3s expression. Cell viability was assessed by WST assay; and 14-3-3s expression was suppressed by siRNA transfection. 14-3-3s mRNA expression increased in CR-A549 and CR-Calu1 compared with their cisplatin-sensitive parental A549 and Calu1 cell lines. But when 14-3-3s expression was suppressed, elevated cisplatin response was seen in A549 and CR-Calu1 cell lines. Increased 14-3-3s expression might also account for reduced cisplatin response in vivo, since, 14-3-3s expression in clinical biopsy samples obtained from lung cancer patients undergoing cisplatin-based chemotherapy significantly higher in the non-responder compared with the responder group. We therefore propose that increased 14-3-3s expression is correlated with cisplatin response in non-small cell lung cancer cells; monitoring its expression might become useful in the future in predicting poor outcome to cisplatin treatment and/or the verification of acquired cisplatin resistance in lung cancer patients.

Genetic Testing and Molecular Biomarkers, 2013

Evidence arising from experimental studies indicates an association between increased levels of t... more Evidence arising from experimental studies indicates an association between increased levels of the growth hormone/insulin-like growth factor 1 and oxidative stress. The association of the Ser326Cys polymorphism in the 8-oxoguanine glycosylase (OGG1) gene with a colon carcinoma and diabetes mellitus has been examined. The aim of the study was to compare the genotypic distribution of OGG1 Ser326Cys between acromegaly patients and nonacromegalic subjects and to explore whether this polymorphism is associated with a colon polyp risk and abnormal glucose tolerance. We examined 98 acromegaly patients, and 99 healthy subjects who can be compared in terms of age and gender. All participants were evaluated by anthropometric and biochemical measurements. Also, a 75-g oral glucose test and colonoscopy was applied to the patients. Genomic DNA was isolated from peripheral blood leucocytes and the genotype was assessed by melting temperature analyses after using a real-time polymerase chain reaction protocol. Colon polyps were detected in 13 (30.2%) of 43 patients who underwent the colonoscopy. Except for diastolic blood pressure, clinical and biochemical characteristics were similar between the patients diagnosed with and without a colon polyp. A higher proportion of acromegaly patients had the Ser326Ser genotype when compared to the control group (p=0.007). Genotypes were similar between the patients with a normal glucose tolerance and an abnormal glucose tolerance (p=0.774). The frequency of the Cys allele was significantly higher in patients with polyps than those without a polyp (38.5% vs. 18.3%) (p=0.029). Our results suggest that the Cys allele may influence the colon polyp risk in acromegaly patients. Large-scale studies with acromegaly patients are required to show whether being a carrier of the Cys allele is associated with the risk of a colorectal polyp.

Anadolu Kardiyoloji Dergisi/The Anatolian Journal of Cardiology, 2014

Objective: Hypertrophic cardiomyopathy (HCM) is a disease of the myocardium with an autosomal-dom... more Objective: Hypertrophic cardiomyopathy (HCM) is a disease of the myocardium with an autosomal-dominant pattern of inheritance mainly caused by single heterozygous mutations in sarcomere genes. In this study we aimed to detect the presence of R403QLW, V606M, K615N, and R663H mutations in beta-myosin heavy-chain gene (MYH7) and figure out the genotype-phenotype correlations in Turkish patients with HCM. Methods: This case-control study based on genotype-phenotype correlation included 69 patients (mean age, years: 50±13.16) diagnosed with HCM constituting the study group and 50 healthy individuals (mean age, years: 52±1.4) constituting the control group. DNA was extracted from peripheral blood and the genotyping of mutations was performed by real-time PCR technique and high resolution melting analysis. Associations between categoric variables were determined using chi-square tests. Differences between two groups were compared with unpaired Student's t-test for continuous variables. Results: None of the patients in the HCM group were carrying the index mutations. One healthy individual was found to be heterozygous for the R663H mutation with mildly abnormal IVS and LVPW thickness. The allele frequency for R663H (G>A) mutation was found to be 0.01% in control group. Conclusion: We performed a mutational screening of 6 HCM-associated mutations in 69 Turkish HCM patients (not previously studied except R403Q). There was no significant difference in the prevalence of the mutations between the patients with HCM and the healthy controls (p>0.05). (Anadolu Kardiyol Derg 2014; 14: 244-50)

Endocrine, 2012

Acromegaly is a syndrome that results when the pituitary gland produces excess growth hormone aft... more Acromegaly is a syndrome that results when the pituitary gland produces excess growth hormone after epiphyseal closure at puberty. Usually, subjects with acromegaly exhibit a 2-to 3-fold higher mortality rate from diseases that are associated with cardiovascular complications when compared to the normal population. In this study, we therefore aimed to evaluate whether a wellestablished cardiovascular risk factor, the Apolipoprotein E (Apo E) genotype, contributes to increased risk of cardiovascular complications in subjects with acromegaly. A total of 102 unrelated acromegaly subjects were prospectively included into this case-control association study and constituted our study group. The study group was comparable by age and gender with 200 unrelated healthy subjects constituting our control group. Genomic DNA was isolated from the peripheral blood leukocytes of all subjects and Apo E genotype (codon 112/158) was assessed by melting temperature analyses after using a real-time PCR protocol. The Apolipoprotein E4 allele was found at a significantly higher frequency in the study group when compared with the control group (P = 0.032). Subjects with the E2 allele, on the other hand, had significantly increased values in body mass index (P = 0.004), waist circumference (P = 0.001), C-reactive protein (CRP) (P \ 0.001), and left-side carotid intima media thickness (P = 0.025). The Apolipoprotein E2 genotype might contribute to increased risk of cardiovascular complications in subjects with acromegaly since it is concurrently present with other cardiovascular risk factors such as the left-side carotid intima media thickness and CRP.

Lipids in Health and Disease, 2011

Obesity, insulin resistance and hyperandrogenism, crucial parameters of Polycystic ovary syndrome... more Obesity, insulin resistance and hyperandrogenism, crucial parameters of Polycystic ovary syndrome (PCOS) play significant pathophysiological roles in lipidemic aberrations associated within the syndrome. Parts of the metabolic syndrome (low HDL and insulin resistance) appeared to facilitate the association between PCOS and coronary artery disease, independently of obesity. ABCA1 gene polymorphism may be altered this components in PCOS patients.In this study, we studied 98 PCOS patients and 93 healthy controls. All subjects underwent venous blood drawing for complete hormonal assays, lipid profile, glucose, insulin, malondialdehyde, nitric oxide, disulfide levels and ABCA genetic study. In PCOS group fasting glucose, DHEAS, 17-OHP, free testosterone, total-cholesterol, triglyceride, LDL-cholesterol and fibrinogen were significantly different compare to controls. The genotype ABCA G2706A distribution differed between the control group (GG 60.7%, GA 32.1%, AA 7.1%) and the PCOS patients (GG 8.7%, GA 8.7%, AA 76.8%). The frequency of the A allele (ABCAG2706A) was higher in PCOS patients than control group with 13,0% and 23,2%, respectively. In this study, the homocystein and insulin levels were significantly higher in PCOS patients with ABCA G1051A mutant genotype than those with heterozygote and wild genotypes. We found higher percentage of AA genotype and A allele of ABCA G2706A in PCOS patients compare to controls. The fasting insulin and homocystein levels were significantly higher in PCOS patients with ABCA G1051A mutant genotype than those with heterozygote and wild genotypes.

journals.tubitak.gov.tr

Turk J Med Sci 2010; 40 (4): 629-636 © TÜBİTAK E-mail: medsci@tubitak.gov.tr doi:10.3906/sag-0908... more Turk J Med Sci 2010; 40 (4): 629-636 © TÜBİTAK E-mail: medsci@tubitak.gov.tr doi:10.3906/sag-0908-159 ... N-acetyltransferase 2 gene polymorphisms and susceptibility to ... Buket KOSOVA1, Vildan BOZOK ÇETİNTAŞ1, Ahmet Çağ ÇAL2, Aslı TETİK1, Rukiye ...

Biküspit aort kapak ve asendan aort anevrizmalı olgularda matriks metalloproteinaz gen polimorfiz... more Biküspit aort kapak ve asendan aort anevrizmalı olgularda matriks metalloproteinaz gen polimorfizminin literatür eşliğinde değerlendirilmesi Literature-based evaluation of matrix metalloproteinase gene polymorphisms in patients with the bicuspid aortic valve and ascending aortic aneurysm patients Özet Biküspit aort kapak (BAK) en sık konjenital kalp malformasyonudur ve popülasyonun %1-2'sinde görülür. Bu patolojinin aort kapak hastalığı, torasik aort dilatasyonu (TAD) veya anevrizması (TAA) gelişimini kolaylaştırdığı çalışmalarda gösterilmiştir. Matriks metalloproteinazlar (MMP), aort duvarından lökositler ve yumuşak kas hücreleri tarafından üretilen çinko bağımlı endopeptidaz ailesidir ve aortun bütününde yer alan elastin, kollajen ve diğer proteinlerin degredasyonundan sorumludur. TAA gelişiminde MMP'lerin rolüne ilişkin çalışmalar yayınlanmıştır. Biz bu yazıda biküspit aort kapakla birlikte asendan aort anevrizması olan hastalarda MMP2 ve MMP9 gen polimorfizmini sunmayı amaçladık. Anahtar Kelimeler: Biküspit aort kapak, anevrizma, MMP 2 , MMP 9 , polimorfizm. Abstract Bicuspid aortic valve (BAV) is the most common congenital heart malformation and seen approximately 1-2% of population. It has been shown that this pathological condition has facilitated the development of aortic valve disease, thoracic aortic dilatation (TAD) or aneurysm (TAA) in the studies. Matrix metalloproteinases (MMP) are zinc-dependent endopeptidase family which produced by leukocytes and smooth muscle cells in the aortic wall and responsible for the degradation of elastin, collagen and other proteins located in the whole aorta. To date there are several studies have been published about investigating the role of MMPs in the development of TAA. We aim to provide the effects of the MMP2 and MMP9 gene polymorphisms on development of the disease in patients with ascending aorta aneurysm and bicuspid aortic valve in this paper.

Genetic Testing and Molecular Biomarkers, 2013

Evidence arising from experimental studies indicates an association between increased levels of t... more Evidence arising from experimental studies indicates an association between increased levels of the growth hormone/insulin-like growth factor 1 and oxidative stress. The association of the Ser326Cys polymorphism in the 8-oxoguanine glycosylase (OGG1) gene with a colon carcinoma and diabetes mellitus has been examined. The aim of the study was to compare the genotypic distribution of OGG1 Ser326Cys between acromegaly patients and nonacromegalic subjects and to explore whether this polymorphism is associated with a colon polyp risk and abnormal glucose tolerance. We examined 98 acromegaly patients, and 99 healthy subjects who can be compared in terms of age and gender. All participants were evaluated by anthropometric and biochemical measurements. Also, a 75-g oral glucose test and colonoscopy was applied to the patients. Genomic DNA was isolated from peripheral blood leucocytes and the genotype was assessed by melting temperature analyses after using a real-time polymerase chain reaction protocol. Colon polyps were detected in 13 (30.2%) of 43 patients who underwent the colonoscopy. Except for diastolic blood pressure, clinical and biochemical characteristics were similar between the patients diagnosed with and without a colon polyp. A higher proportion of acromegaly patients had the Ser326Ser genotype when compared to the control group (p=0.007). Genotypes were similar between the patients with a normal glucose tolerance and an abnormal glucose tolerance (p=0.774). The frequency of the Cys allele was significantly higher in patients with polyps than those without a polyp (38.5% vs. 18.3%) (p=0.029). Our results suggest that the Cys allele may influence the colon polyp risk in acromegaly patients. Large-scale studies with acromegaly patients are required to show whether being a carrier of the Cys allele is associated with the risk of a colorectal polyp.

Anadolu Kardiyoloji Dergisi/The Anatolian Journal of Cardiology, 2014

Journal of Diabetes and its Complications, 2008

Objective: Recent studies have suggested an association between a deletion variant of the angiote... more Objective: Recent studies have suggested an association between a deletion variant of the angiotensin-converting enzyme (ACE) gene and diabetic nephropathy. However, this finding has not been confirmed by all investigators. Furthermore, an M235T variant of the angiotensinogen (AGT) gene has been associated with hypertension, an important risk factor for the development and progression of diabetic nephropathy. Research Design and Methods: We investigated the relationship of the ACE insertion/deletion (I/D) and AGT M235T gene polymorphisms in Turkish patients with type 2 diabetes mellitus (DM) with and without diabetic nephropathy. A total of 102 individuals were screened for the presence of the ACE I/D and AGT M235T polymorphism: 46 individuals who had type 2 DM with diabetic nephropathy and, as controls, 56 individuals who had type 2 DM without diabetic nephropathy. Gene polymorphisms were determined by the specific melting temperature (T m ) values of the resulting amplicons after real-time online polymerase chain reaction and melting curve analysis. Results: The frequencies of the ACE DD, ID, and II genotypes were 34.8%, 37.0%, and 28.3%, respectively, among type 2 diabetic patients with nephropathy, and 33.9%, 42.9%, 23.2%, respectively ( P=.788), in the control subjects without diabetic nephropathy. On the other hand, the frequencies of the AGT MM, MT, and TT genotypes among the same groups were 26.1%, 52.2%, 21.7% and 26.8%, 57.1%, 16.1%, respectively ( P=.758). Conclusions: There were no differences in the frequencies of the AGT M235T and ACE I/D genotypes between Turkish patients with type 2 DM with and without nephropathy. D

Journal of Assisted Reproduction and Genetics, 2009

Purpose Dyslipidemia, cardiovascular disease and hypertension are more frequently seen in patient... more Purpose Dyslipidemia, cardiovascular disease and hypertension are more frequently seen in patients with PCOS than in normal patients. We aimed at evaluating the distribution of Apo E alleles that can influence cardiovascular risk of the PCOS patients and control subjects. Methods In this study, 129 young women with PCOS and 91 healthy women were included. In all subjects we performed hormonal, biochemical and Apo E genetic analysis. Results The Apo E3 allele was found at a significantly higher frequency in the PCOS patient group compared with the control group. The Apo E2 allele was found at a significantly higher frequency in the control group compared with the patient group with PCOS. Conclusions Although there were genotype and allele differences between control and patient groups in this study, no statistically significant change was determined in lipid and other cardiovascular risk factors in connection with allele and genotype.

Journal of Cardiovascular Electrophysiology, 2008

Genetics and Idiopathic Ventricular Arrhythmias. Introduction: Idiopathic ventricular arrhythmias... more Genetics and Idiopathic Ventricular Arrhythmias. Introduction: Idiopathic ventricular arrhythmias commonly refer to ventricular tachycardia (VT) and/or frequent/monomorphic premature ventricular contractions (PVC) in patients with structurally normal heart. Activation of sympathetic tone has been shown to play an important role in the provocation and maintenance of these arrhythmias. We investigated whether common single nucleotide polymorphisms in the β 1 and β 2 -adrenergic receptors are associated with idiopathic ventricular arrhythmias.

Cell Biology International, 2013

The efficacies of chemotherapeutic agents are often limited by side effects and acquired drug res... more The efficacies of chemotherapeutic agents are often limited by side effects and acquired drug resistance. We have investigated whether the differential expression pattern of 14-3-3s affects cisplatin response in non-small cell lung cancer cell lines. Two pairs of parental/cisplatin resistant cell lines (A549/CRA549 and Calu1/CR-Calu1) and clinical lung cancer biopsy samples were analysed for 14-3-3s expression. Cell viability was assessed by WST assay; and 14-3-3s expression was suppressed by siRNA transfection. 14-3-3s mRNA expression increased in CR-A549 and CR-Calu1 compared with their cisplatin-sensitive parental A549 and Calu1 cell lines. But when 14-3-3s expression was suppressed, elevated cisplatin response was seen in A549 and CR-Calu1 cell lines. Increased 14-3-3s expression might also account for reduced cisplatin response in vivo, since, 14-3-3s expression in clinical biopsy samples obtained from lung cancer patients undergoing cisplatin-based chemotherapy significantly higher in the non-responder compared with the responder group. We therefore propose that increased 14-3-3s expression is correlated with cisplatin response in non-small cell lung cancer cells; monitoring its expression might become useful in the future in predicting poor outcome to cisplatin treatment and/or the verification of acquired cisplatin resistance in lung cancer patients.

Genetic Testing and Molecular Biomarkers, 2013

Evidence arising from experimental studies indicates an association between increased levels of t... more Evidence arising from experimental studies indicates an association between increased levels of the growth hormone/insulin-like growth factor 1 and oxidative stress. The association of the Ser326Cys polymorphism in the 8-oxoguanine glycosylase (OGG1) gene with a colon carcinoma and diabetes mellitus has been examined. The aim of the study was to compare the genotypic distribution of OGG1 Ser326Cys between acromegaly patients and nonacromegalic subjects and to explore whether this polymorphism is associated with a colon polyp risk and abnormal glucose tolerance. We examined 98 acromegaly patients, and 99 healthy subjects who can be compared in terms of age and gender. All participants were evaluated by anthropometric and biochemical measurements. Also, a 75-g oral glucose test and colonoscopy was applied to the patients. Genomic DNA was isolated from peripheral blood leucocytes and the genotype was assessed by melting temperature analyses after using a real-time polymerase chain reaction protocol. Colon polyps were detected in 13 (30.2%) of 43 patients who underwent the colonoscopy. Except for diastolic blood pressure, clinical and biochemical characteristics were similar between the patients diagnosed with and without a colon polyp. A higher proportion of acromegaly patients had the Ser326Ser genotype when compared to the control group (p=0.007). Genotypes were similar between the patients with a normal glucose tolerance and an abnormal glucose tolerance (p=0.774). The frequency of the Cys allele was significantly higher in patients with polyps than those without a polyp (38.5% vs. 18.3%) (p=0.029). Our results suggest that the Cys allele may influence the colon polyp risk in acromegaly patients. Large-scale studies with acromegaly patients are required to show whether being a carrier of the Cys allele is associated with the risk of a colorectal polyp.

Anadolu Kardiyoloji Dergisi/The Anatolian Journal of Cardiology, 2014

Objective: Hypertrophic cardiomyopathy (HCM) is a disease of the myocardium with an autosomal-dom... more Objective: Hypertrophic cardiomyopathy (HCM) is a disease of the myocardium with an autosomal-dominant pattern of inheritance mainly caused by single heterozygous mutations in sarcomere genes. In this study we aimed to detect the presence of R403QLW, V606M, K615N, and R663H mutations in beta-myosin heavy-chain gene (MYH7) and figure out the genotype-phenotype correlations in Turkish patients with HCM. Methods: This case-control study based on genotype-phenotype correlation included 69 patients (mean age, years: 50±13.16) diagnosed with HCM constituting the study group and 50 healthy individuals (mean age, years: 52±1.4) constituting the control group. DNA was extracted from peripheral blood and the genotyping of mutations was performed by real-time PCR technique and high resolution melting analysis. Associations between categoric variables were determined using chi-square tests. Differences between two groups were compared with unpaired Student's t-test for continuous variables. Results: None of the patients in the HCM group were carrying the index mutations. One healthy individual was found to be heterozygous for the R663H mutation with mildly abnormal IVS and LVPW thickness. The allele frequency for R663H (G>A) mutation was found to be 0.01% in control group. Conclusion: We performed a mutational screening of 6 HCM-associated mutations in 69 Turkish HCM patients (not previously studied except R403Q). There was no significant difference in the prevalence of the mutations between the patients with HCM and the healthy controls (p>0.05). (Anadolu Kardiyol Derg 2014; 14: 244-50)

Endocrine, 2012

Acromegaly is a syndrome that results when the pituitary gland produces excess growth hormone aft... more Acromegaly is a syndrome that results when the pituitary gland produces excess growth hormone after epiphyseal closure at puberty. Usually, subjects with acromegaly exhibit a 2-to 3-fold higher mortality rate from diseases that are associated with cardiovascular complications when compared to the normal population. In this study, we therefore aimed to evaluate whether a wellestablished cardiovascular risk factor, the Apolipoprotein E (Apo E) genotype, contributes to increased risk of cardiovascular complications in subjects with acromegaly. A total of 102 unrelated acromegaly subjects were prospectively included into this case-control association study and constituted our study group. The study group was comparable by age and gender with 200 unrelated healthy subjects constituting our control group. Genomic DNA was isolated from the peripheral blood leukocytes of all subjects and Apo E genotype (codon 112/158) was assessed by melting temperature analyses after using a real-time PCR protocol. The Apolipoprotein E4 allele was found at a significantly higher frequency in the study group when compared with the control group (P = 0.032). Subjects with the E2 allele, on the other hand, had significantly increased values in body mass index (P = 0.004), waist circumference (P = 0.001), C-reactive protein (CRP) (P \ 0.001), and left-side carotid intima media thickness (P = 0.025). The Apolipoprotein E2 genotype might contribute to increased risk of cardiovascular complications in subjects with acromegaly since it is concurrently present with other cardiovascular risk factors such as the left-side carotid intima media thickness and CRP.

Lipids in Health and Disease, 2011

Obesity, insulin resistance and hyperandrogenism, crucial parameters of Polycystic ovary syndrome... more Obesity, insulin resistance and hyperandrogenism, crucial parameters of Polycystic ovary syndrome (PCOS) play significant pathophysiological roles in lipidemic aberrations associated within the syndrome. Parts of the metabolic syndrome (low HDL and insulin resistance) appeared to facilitate the association between PCOS and coronary artery disease, independently of obesity. ABCA1 gene polymorphism may be altered this components in PCOS patients.In this study, we studied 98 PCOS patients and 93 healthy controls. All subjects underwent venous blood drawing for complete hormonal assays, lipid profile, glucose, insulin, malondialdehyde, nitric oxide, disulfide levels and ABCA genetic study. In PCOS group fasting glucose, DHEAS, 17-OHP, free testosterone, total-cholesterol, triglyceride, LDL-cholesterol and fibrinogen were significantly different compare to controls. The genotype ABCA G2706A distribution differed between the control group (GG 60.7%, GA 32.1%, AA 7.1%) and the PCOS patients (GG 8.7%, GA 8.7%, AA 76.8%). The frequency of the A allele (ABCAG2706A) was higher in PCOS patients than control group with 13,0% and 23,2%, respectively. In this study, the homocystein and insulin levels were significantly higher in PCOS patients with ABCA G1051A mutant genotype than those with heterozygote and wild genotypes. We found higher percentage of AA genotype and A allele of ABCA G2706A in PCOS patients compare to controls. The fasting insulin and homocystein levels were significantly higher in PCOS patients with ABCA G1051A mutant genotype than those with heterozygote and wild genotypes.

journals.tubitak.gov.tr

Turk J Med Sci 2010; 40 (4): 629-636 © TÜBİTAK E-mail: medsci@tubitak.gov.tr doi:10.3906/sag-0908... more Turk J Med Sci 2010; 40 (4): 629-636 © TÜBİTAK E-mail: medsci@tubitak.gov.tr doi:10.3906/sag-0908-159 ... N-acetyltransferase 2 gene polymorphisms and susceptibility to ... Buket KOSOVA1, Vildan BOZOK ÇETİNTAŞ1, Ahmet Çağ ÇAL2, Aslı TETİK1, Rukiye ...