Grzegorz Kurzawski - Academia.edu (original) (raw)
Papers by Grzegorz Kurzawski
Scandinavian Journal of Clinical and Laboratory Investigation, 2015
This is the first study to investigate the relationship between plasma concentration of soluble C... more This is the first study to investigate the relationship between plasma concentration of soluble CD36 (sCD36) and CD36 gene polymorphisms as well as clinical and echocardiographic parameters in patients with early onset coronary artery disease (CAD). sCD36 concentrations were measured by the ELISA kits. CD36 sequence alterations detected by the DHPLC technique comprised single nucleotide substitutions: rs3173798, rs3211892, rs5956 and rs141680676. There were significant negative correlations between sCD36 and red blood cell count, hemoglobin, hematocrit and glucose concentration, ApoB/ApoA1 ratio, patients' weight and waist circumference, BMI, WHR, systolic blood pressure, MAP values, left ventricular end-diastolic diameter and volume, left atrium diameter, right ventricular end-diastolic diameter. There were significant positive correlations between sCD36 and patients' age, mean corpuscular volume of erythrocytes, HDL-cholesterol, ApoA1 concentrations. Significantly higher CD36 plasma levels were found in female subgroup. There was no association between CD36 genotypes and sCD36 concentrations. Multiple linear regression analysis revealed that significant independent predictors of higher plasma sCD36 level were female gender, older age, lower serum glucose and lower RBC. The presented data suggest possible protective effects of higher sCD36 concentration in relation to metabolic syndrome components in CAD patients. Higher sCD36 concentration is also associated with lower risk of left ventricular hypertrophy, but on the other hand is a potential risk factor of impaired left ventricle diastolic function.
Anticancer research
The mutational spectrum of mismatch repair (MMR) genes in the Baltic States has been reported to ... more The mutational spectrum of mismatch repair (MMR) genes in the Baltic States has been reported to be quite similar to that in Poland; however during a country-wide study considerable differences in the population of Latvia were discovered. This study was undertaken to investigate the clinical and molecular features of HNPCC in Latvia. MATERIALS and Family cancer histories were collected, from January 2000 until October 2003, for 702 consecutive hospital based colorectal cancer (CRC) cases. In families suspected of having a history consistent with hereditary non-polyposis colorectal cancer (HNPCC), DNA testing for MLH1, MSH2 and MSH6 genes was performed. Immunohistochemical examination of the normal and the cancer tissue from large bowel tumors was undertaken for MSH2 and MSH6 protein expression in 182 out of 702 (26%) of the cases. Among the 702 CRC patients only 1 (0.14%) fulfilled the Amsterdam criteria. Thirteen (1.9%) cases matched the criteria for suspected HNPCC and 10 (1.4%) c...
Hereditary cancer in clinical practice, Jan 15, 2006
This manuscript is composed of five parts which summarize five publications in succession. Essent... more This manuscript is composed of five parts which summarize five publications in succession. Essentially, they are concerned with molecular diagnostics of Lynch syndrome and are based on studies in 238 families. The finding that young age at diagnosis is the key feature in patients with MSH2 and MLH1 mutations (Part 1) has helped to define simple criteria for the preliminary diagnosis of this syndrome. A cheaper method for the detection of mutations has been developed (Part 2) and applied to study the types of mutations and their prevalence in Poland (Part 3) and the Baltic States (Part 4). A specific feature of these mutations, i.e. presence of recurrent mutations in the majority of affected families with mutations, has suggested the feasibility of effective diagnostics with a single test disclosing all of them. An attempt to reveal other causes of familial aggregation of colorectal cancer has ruled out any association with C insertion in the NOD2 gene (Part 5).
Anticancer research
The mutational spectrum of mismatch repair (MMR) genes in the Baltic States has been reported to ... more The mutational spectrum of mismatch repair (MMR) genes in the Baltic States has been reported to be quite similar to that in Poland; however during a country-wide study considerable differences in the population of Latvia were discovered. This study was undertaken to investigate the clinical and molecular features of HNPCC in Latvia. Family cancer histories were collected, from January 2000 until October 2003, for 702 consecutive hospital based colorectal cancer (CRC) cases. In families suspected of having a history consistent with hereditary non-polyposis colorectal cancer (HNPCC), DNA testing for MLH1, MSH2 and MSH6 genes was performed. Immunohistochemical examination of the normal and the cancer tissue from large bowel tumors was undertaken for MSH2 and MSH6 protein expression in 182 out of 702 (26%) of the cases. Among the 702 CRC patients only 1 (0.14%) fulfilled the Amsterdam criteria. Thirteen (1.9%) cases matched the criteria for suspected HNPCC and 10 (1.4%) cases matched t...
Acta biochimica Polonica, 2002
On the basis of literature data and own experience the authors review the current knowledge about... more On the basis of literature data and own experience the authors review the current knowledge about the molecular basis of inherited predispositions for tumors. They hypothesize that in the near perspective 5-10 years studies using existing registry data/material and the latest novel technology will allow the identification of the molecular background for the majority of hereditary cancers which will have enormous practical consequences especially for the prevention of malignancies.
World journal of gastroenterology : WJG, Jan 28, 2010
To describe a Polish population with nonalcoholic fatty liver disease (NAFLD) with regard to HFE ... more To describe a Polish population with nonalcoholic fatty liver disease (NAFLD) with regard to HFE gene mutations, as well as analyzing demographic and clinical data. Sixty-two consecutive patients with biopsy-proven NAFLD were included in the study. Demographic, clinical, and laboratory data were summarized in a database. C282Y and H63D mutations of the HFE gene were analyzed using polymerase chain reaction-restriction fragment lenght polymorphism. The analyzed cohort consisted of 62 homogeneic Caucasian participants, 66.1% men and 33.9% women, with a median age of 48 years. The median body mass index was 29.05 kg/m(2). Hypercholesterolemia was observed in 74.2% of patients and hypertriglyceridemia in 32.2%; 16.1% had type 2 diabetes mellitus (DMt2). On liver biopsy, 22.6% of NAFLD patients were found to have severe fibrosis. There were no differences between frequencies of HFE gene mutations in subgroups of NAFLD patients with less and more severe liver fibrosis. Obesity, older age,...
Hereditary Cancer in Clinical Practice, 2003
H He er re ed di it ta ar ry y C Ca an nc ce er r i in n C Cl li in ni ic ca al l P Pr ra ac ct t... more H He er re ed di it ta ar ry y C Ca an nc ce er r i in n C Cl li in ni ic ca al l P Pr ra ac ct ti ic ce e 2003; 1(1) 49
Postępy Higieny i Medycyny Doświadczalnej, 2012
CD36 may play an important role in removal of oxidized LDLs from plasma, protein glycation, the p... more CD36 may play an important role in removal of oxidized LDLs from plasma, protein glycation, the pathogenesis of insulin resistance, type 2 diabetes, and diabetic micro- and macroangiopathy. Some reports have pointed to decreased expression of macrophages in association with mutations of the CD36 gene in hyperglycemic and obese subjects. The aim of the study was to search for an association between CD36 gene polymorphism and carbohydrate metabolism disturbances or variability of plasma soluble CD36 concentrations in obese children. The study included 60 children aged 10 to 15 years: 30 with (study group) and 30 without (control group) obesity. Each patient's glycated hemoglobin, weight, height, waist and hip circumference, and systolic and diastolic blood pressure were measured, BMI, WHR and MAP were calculated, and oral glucose tolerance test was performed with glucose and insulin concentration measurements. Amplicons of exons 4-6 of CD36 were studied using DHPLC technique. The PCR products with alterations were bidirectionally sequenced. Plasma concentrations of human antigen CD36 was measured using a commercially available enzyme-linked immunosorbent assay (ELISA). We found two intronic alterations: IVS3-6 T/C (rs3173798) and IVS4-10 G/A (rs3211892), one nonsynonymous substitution: G367A (Glu123Lys, rs183461468) in exon 5 and two synonymous transitions in exon 6: G573A (Pro191Pro, rs5956) and A591T (Thr197Thr, rs141680676). There were no significant differences in any biochemical or morphometric parameters between genotype groups. The polymorphisms of the studied fragment of CD36 are not associated with carbohydrate metabolism disturbances or the variability of plasma soluble CD36 concentrations in obese children, but further research is necessary to assess their functional implications.
Journal of Clinical Immunology, 1993
The present study examined CD8 antigen expression and variable (V) gene segment usage by T cell r... more The present study examined CD8 antigen expression and variable (V) gene segment usage by T cell receptor (TCR)-γδ+ lymphocytes in peripheral blood of symptomatic children with perinatal HIV infection. The relative number of γδ+, CD8+ T cells in most of the infected children was higher than that in uninfected children from HIV+ or HIV− mothers and correlated with the immunodeficiency status of the patients. Infected infants and children over 1 year old also showed an increased proportion of Vδ1-Jδ1+ T lymphocytes. CD8 expression on those cells was higher in infected than in uninfected infants and children. Sequence analysis of the δ gene rearrangement of the predominant Vδ1 family in peripheral blood of three HIV+ donors revealed extensive junctional diversity. These results suggest that the Vδ skewing in the majority of HIV+ children reflects peripheral expansion of Vδ1-Jδ1+ T lymphocytes early in life, which might be involved in the mechanisms of HIV-induced immunodeficiency.
Page 1. Grzegorz Kurzawski, Joanna Matyjasik Analizy molekularne DNA i RNA w wy-... 29. Zajączek ... more Page 1. Grzegorz Kurzawski, Joanna Matyjasik Analizy molekularne DNA i RNA w wy-... 29. Zajączek St., Podolski J., Lubiński J., Rosławska A., Krzystolik Z. Sagan Z.: Technika RFLP-PCR w wykluczeniu nosicielstwa zmutowanego genu Rb. Klinika Oczna 1993, 95, 216-218. 30. ...
Hereditary hemochromatosis has been linked with C282Y and H63D mutations of the HFE gene encoding... more Hereditary hemochromatosis has been linked with C282Y and H63D mutations of the HFE gene encoding human hemochromatosis protein. It is genetic disorder of iron metabolism, leading to iron accumulation and increased liver fibrosis. The association between alcoholic liver disease (ALD) and HFE gene mutations remains unclear and requires clarification. The aim of the study was to determine the prevalence of C282Y and H63D mutations in patients with ALD and healthy individuals and to analyze laboratory data in the context of HFE gene mutation in ALD patients. We analyzed 119 patients with ALD. The control group comprised 1516 DNA samples obtained either from cord blood or healthy subjects from the records of general practitioners. HFE mutations were detected using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Among the ALD patients, 0.84% were homozygous and 3.36% were heterozygous for the C282Y mutation, while 5.04% were homozygous and 21.85% heterozygous for the H63D mutation. There was 1 C282Y/H63D compound heterozygote in the ALD group. In the control group, 2 homozygotes and 117 heterozygotes for the C282Y mutation were identified. As for the H63D mutation, 2.5% homozygotes, 25% heterozygotes, and 1.4% compound heterozygotes were found. There was a trend towards a more common occurrence of ALD patients homozygous for the H63D mutation. Patients with H63D genotype had higher total and low-density lipoprotein cholesterol. The prevalence of HFE mutations in ALD patients is similar to that observed in healthy subjects and comparable to the prevalence in other Central European countries. Our findings on lipid disturbances in the H63D heterozygotes are potentially interesting and require further studies on larger patient groups.
Kardiologia polska, 2012
CD36 is a multifunctional molecule engaged in the removal of oxidised LDL from plasma. It is uncl... more CD36 is a multifunctional molecule engaged in the removal of oxidised LDL from plasma. It is unclear whether mutation of the CD36 gene protects against, or increases, the risk of hypercholesterolaemia, atherosclerosis and its complications. To search for associations between the CD36 gene polymorphisms and radiological markers of atherosclerosis progress in Caucasian patients with coronary artery disease (CAD) diagnosed at a young age. The study group comprised 70 patients with early CAD. Doppler ultrasound of carotid and peripheral arteries was carried out and genomic DNA was isolated from each patient. We found two single nucleotide substitutions in introns (IVS3-6 T/C - rs3173798 and IVS4-10 G/A - rs3211892) and two synonymous polymorphisms in exon 6 (G573A - rs5956 and A591T). The allele frequencies were: 10.7% for the IVS3-6C, 3.6% for the IVS4-10A, 3.6% for the 573A, and 2.1% for the 591T. The 573A allele of CD36 rs5956 polymorphism is associated with low thickness of atheroma...
Clinical pharmacology and therapeutics, 1999
It has been shown that slow acetylation rate may be a factor that influences the development of a... more It has been shown that slow acetylation rate may be a factor that influences the development of allergic diseases. The influence of NAT2 genetic polymorphism on the risk of development of atopic diseases was evaluated among the white Polish population of 85 patients with atopy (62 children and 23 parents) and 181 healthy individuals (127 children and 54 adults). The NAT2 alleles (*4, *5, *6, and *7) were identified by polymerase chain reaction-restriction fragment length polymorphism methods with DNA extracted from peripheral blood. A significant predominance of homozygous slow acetylators (85%) among patients with atopic diseases was observed. There were no homozygous fast acetylators within this group of individuals. Comparison of the frequency of slow acetylators between the above group of patients and healthy subjects (54%) showed that the significant predominance of slow acetylators was observed in the first group (P < .001). The risk of development of atopic diseases was 5-...
Acta Endocrinologica (Bucharest), 2012
Hereditary Cancer in Clinical Practice, 2005
H He er re ed di it ta ar ry y C Ca an nc ce er r i in n C Cl li in ni ic ca al l P Pr ra ac ct t... more H He er re ed di it ta ar ry y C Ca an nc ce er r i in n C Cl li in ni ic ca al l P Pr ra ac ct ti ic ce e 2005; 3(2) A Ab bs st tr ra ac ct t I In nt tr ro od du uc ct ti io on n. . The aim of the study is to evaluate the incidence and phenotype-genotype characteristics of hereditary breast and ovarian cancer syndromes in Latvia in order to develop the basis of clinical management for patients and their relatives affected by this syndrome. M Ma at te er ri ia al l a an nd d m me et th ho od ds s. . In -2004 in two Latvian oncology hospitals (Liepãja Oncology Hospital and Daugavpils Oncology Hospital) cancer family histories were collected from 287 consecutive patients with breast and ovarian cancer. In all cases, when it was possible to obtain the blood sample, DNA testing for founder mutations in the BRCA1 gene was performed. R Re es su ul lt ts s. . Among 287 family cancer histories analysed in 8 (2.8%) cases criteria of hereditary breast cancer (HBC) were fulfilled and in 5 (1.7%) cases hereditary breast and ovarian cancer (HBOC) was diagnosed. In 50 (17.4%) cases we have suspicion of hereditary breast cancer (HBC susp.) and in 8 (2.8%) cases -suspicion of hereditary breast and ovarian cancer (HBOC susp.). We have one (0.3%) case with hereditary ovarian cancer (HOC). DNA testing of founder mutations in the BRCA1 gene (exon 20 (5382 insC) exon 5 (300T/G), exon 11, 17 (4153delA)) for 178/287 (62%) patients was performed. In 9/287 (4.9%) cases we found a mutation in the BRCA1 gene. 4 mutations were detected in exon 11, 17 (4153delA) and 4 mutations in exon 20 (5382 insC) and 1 in exon 5. C Co on nc cl lu us si io on ns s. . Existing pedigree/clinical data suggest that in Latvia the clinical frequency of hereditary breast and ovarian cancer is around 5% of consecutive breast and ovarian cancer patients and suspicion of the syndrome is observed in another 20% of cases. Frequency of BRCA1 founder mutations is 5% of all consecutive breast and ovarian cancers. Considerable geographical differences in the clinical and molecular frequency of hereditary breast ovarian cancer have been observed in Latvia.
Scandinavian Journal of Clinical and Laboratory Investigation, 2015
This is the first study to investigate the relationship between plasma concentration of soluble C... more This is the first study to investigate the relationship between plasma concentration of soluble CD36 (sCD36) and CD36 gene polymorphisms as well as clinical and echocardiographic parameters in patients with early onset coronary artery disease (CAD). sCD36 concentrations were measured by the ELISA kits. CD36 sequence alterations detected by the DHPLC technique comprised single nucleotide substitutions: rs3173798, rs3211892, rs5956 and rs141680676. There were significant negative correlations between sCD36 and red blood cell count, hemoglobin, hematocrit and glucose concentration, ApoB/ApoA1 ratio, patients&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; weight and waist circumference, BMI, WHR, systolic blood pressure, MAP values, left ventricular end-diastolic diameter and volume, left atrium diameter, right ventricular end-diastolic diameter. There were significant positive correlations between sCD36 and patients&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; age, mean corpuscular volume of erythrocytes, HDL-cholesterol, ApoA1 concentrations. Significantly higher CD36 plasma levels were found in female subgroup. There was no association between CD36 genotypes and sCD36 concentrations. Multiple linear regression analysis revealed that significant independent predictors of higher plasma sCD36 level were female gender, older age, lower serum glucose and lower RBC. The presented data suggest possible protective effects of higher sCD36 concentration in relation to metabolic syndrome components in CAD patients. Higher sCD36 concentration is also associated with lower risk of left ventricular hypertrophy, but on the other hand is a potential risk factor of impaired left ventricle diastolic function.
Anticancer research
The mutational spectrum of mismatch repair (MMR) genes in the Baltic States has been reported to ... more The mutational spectrum of mismatch repair (MMR) genes in the Baltic States has been reported to be quite similar to that in Poland; however during a country-wide study considerable differences in the population of Latvia were discovered. This study was undertaken to investigate the clinical and molecular features of HNPCC in Latvia. MATERIALS and Family cancer histories were collected, from January 2000 until October 2003, for 702 consecutive hospital based colorectal cancer (CRC) cases. In families suspected of having a history consistent with hereditary non-polyposis colorectal cancer (HNPCC), DNA testing for MLH1, MSH2 and MSH6 genes was performed. Immunohistochemical examination of the normal and the cancer tissue from large bowel tumors was undertaken for MSH2 and MSH6 protein expression in 182 out of 702 (26%) of the cases. Among the 702 CRC patients only 1 (0.14%) fulfilled the Amsterdam criteria. Thirteen (1.9%) cases matched the criteria for suspected HNPCC and 10 (1.4%) c...
Hereditary cancer in clinical practice, Jan 15, 2006
This manuscript is composed of five parts which summarize five publications in succession. Essent... more This manuscript is composed of five parts which summarize five publications in succession. Essentially, they are concerned with molecular diagnostics of Lynch syndrome and are based on studies in 238 families. The finding that young age at diagnosis is the key feature in patients with MSH2 and MLH1 mutations (Part 1) has helped to define simple criteria for the preliminary diagnosis of this syndrome. A cheaper method for the detection of mutations has been developed (Part 2) and applied to study the types of mutations and their prevalence in Poland (Part 3) and the Baltic States (Part 4). A specific feature of these mutations, i.e. presence of recurrent mutations in the majority of affected families with mutations, has suggested the feasibility of effective diagnostics with a single test disclosing all of them. An attempt to reveal other causes of familial aggregation of colorectal cancer has ruled out any association with C insertion in the NOD2 gene (Part 5).
Anticancer research
The mutational spectrum of mismatch repair (MMR) genes in the Baltic States has been reported to ... more The mutational spectrum of mismatch repair (MMR) genes in the Baltic States has been reported to be quite similar to that in Poland; however during a country-wide study considerable differences in the population of Latvia were discovered. This study was undertaken to investigate the clinical and molecular features of HNPCC in Latvia. Family cancer histories were collected, from January 2000 until October 2003, for 702 consecutive hospital based colorectal cancer (CRC) cases. In families suspected of having a history consistent with hereditary non-polyposis colorectal cancer (HNPCC), DNA testing for MLH1, MSH2 and MSH6 genes was performed. Immunohistochemical examination of the normal and the cancer tissue from large bowel tumors was undertaken for MSH2 and MSH6 protein expression in 182 out of 702 (26%) of the cases. Among the 702 CRC patients only 1 (0.14%) fulfilled the Amsterdam criteria. Thirteen (1.9%) cases matched the criteria for suspected HNPCC and 10 (1.4%) cases matched t...
Acta biochimica Polonica, 2002
On the basis of literature data and own experience the authors review the current knowledge about... more On the basis of literature data and own experience the authors review the current knowledge about the molecular basis of inherited predispositions for tumors. They hypothesize that in the near perspective 5-10 years studies using existing registry data/material and the latest novel technology will allow the identification of the molecular background for the majority of hereditary cancers which will have enormous practical consequences especially for the prevention of malignancies.
World journal of gastroenterology : WJG, Jan 28, 2010
To describe a Polish population with nonalcoholic fatty liver disease (NAFLD) with regard to HFE ... more To describe a Polish population with nonalcoholic fatty liver disease (NAFLD) with regard to HFE gene mutations, as well as analyzing demographic and clinical data. Sixty-two consecutive patients with biopsy-proven NAFLD were included in the study. Demographic, clinical, and laboratory data were summarized in a database. C282Y and H63D mutations of the HFE gene were analyzed using polymerase chain reaction-restriction fragment lenght polymorphism. The analyzed cohort consisted of 62 homogeneic Caucasian participants, 66.1% men and 33.9% women, with a median age of 48 years. The median body mass index was 29.05 kg/m(2). Hypercholesterolemia was observed in 74.2% of patients and hypertriglyceridemia in 32.2%; 16.1% had type 2 diabetes mellitus (DMt2). On liver biopsy, 22.6% of NAFLD patients were found to have severe fibrosis. There were no differences between frequencies of HFE gene mutations in subgroups of NAFLD patients with less and more severe liver fibrosis. Obesity, older age,...
Hereditary Cancer in Clinical Practice, 2003
H He er re ed di it ta ar ry y C Ca an nc ce er r i in n C Cl li in ni ic ca al l P Pr ra ac ct t... more H He er re ed di it ta ar ry y C Ca an nc ce er r i in n C Cl li in ni ic ca al l P Pr ra ac ct ti ic ce e 2003; 1(1) 49
Postępy Higieny i Medycyny Doświadczalnej, 2012
CD36 may play an important role in removal of oxidized LDLs from plasma, protein glycation, the p... more CD36 may play an important role in removal of oxidized LDLs from plasma, protein glycation, the pathogenesis of insulin resistance, type 2 diabetes, and diabetic micro- and macroangiopathy. Some reports have pointed to decreased expression of macrophages in association with mutations of the CD36 gene in hyperglycemic and obese subjects. The aim of the study was to search for an association between CD36 gene polymorphism and carbohydrate metabolism disturbances or variability of plasma soluble CD36 concentrations in obese children. The study included 60 children aged 10 to 15 years: 30 with (study group) and 30 without (control group) obesity. Each patient&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s glycated hemoglobin, weight, height, waist and hip circumference, and systolic and diastolic blood pressure were measured, BMI, WHR and MAP were calculated, and oral glucose tolerance test was performed with glucose and insulin concentration measurements. Amplicons of exons 4-6 of CD36 were studied using DHPLC technique. The PCR products with alterations were bidirectionally sequenced. Plasma concentrations of human antigen CD36 was measured using a commercially available enzyme-linked immunosorbent assay (ELISA). We found two intronic alterations: IVS3-6 T/C (rs3173798) and IVS4-10 G/A (rs3211892), one nonsynonymous substitution: G367A (Glu123Lys, rs183461468) in exon 5 and two synonymous transitions in exon 6: G573A (Pro191Pro, rs5956) and A591T (Thr197Thr, rs141680676). There were no significant differences in any biochemical or morphometric parameters between genotype groups. The polymorphisms of the studied fragment of CD36 are not associated with carbohydrate metabolism disturbances or the variability of plasma soluble CD36 concentrations in obese children, but further research is necessary to assess their functional implications.
Journal of Clinical Immunology, 1993
The present study examined CD8 antigen expression and variable (V) gene segment usage by T cell r... more The present study examined CD8 antigen expression and variable (V) gene segment usage by T cell receptor (TCR)-γδ+ lymphocytes in peripheral blood of symptomatic children with perinatal HIV infection. The relative number of γδ+, CD8+ T cells in most of the infected children was higher than that in uninfected children from HIV+ or HIV− mothers and correlated with the immunodeficiency status of the patients. Infected infants and children over 1 year old also showed an increased proportion of Vδ1-Jδ1+ T lymphocytes. CD8 expression on those cells was higher in infected than in uninfected infants and children. Sequence analysis of the δ gene rearrangement of the predominant Vδ1 family in peripheral blood of three HIV+ donors revealed extensive junctional diversity. These results suggest that the Vδ skewing in the majority of HIV+ children reflects peripheral expansion of Vδ1-Jδ1+ T lymphocytes early in life, which might be involved in the mechanisms of HIV-induced immunodeficiency.
Page 1. Grzegorz Kurzawski, Joanna Matyjasik Analizy molekularne DNA i RNA w wy-... 29. Zajączek ... more Page 1. Grzegorz Kurzawski, Joanna Matyjasik Analizy molekularne DNA i RNA w wy-... 29. Zajączek St., Podolski J., Lubiński J., Rosławska A., Krzystolik Z. Sagan Z.: Technika RFLP-PCR w wykluczeniu nosicielstwa zmutowanego genu Rb. Klinika Oczna 1993, 95, 216-218. 30. ...
Hereditary hemochromatosis has been linked with C282Y and H63D mutations of the HFE gene encoding... more Hereditary hemochromatosis has been linked with C282Y and H63D mutations of the HFE gene encoding human hemochromatosis protein. It is genetic disorder of iron metabolism, leading to iron accumulation and increased liver fibrosis. The association between alcoholic liver disease (ALD) and HFE gene mutations remains unclear and requires clarification. The aim of the study was to determine the prevalence of C282Y and H63D mutations in patients with ALD and healthy individuals and to analyze laboratory data in the context of HFE gene mutation in ALD patients. We analyzed 119 patients with ALD. The control group comprised 1516 DNA samples obtained either from cord blood or healthy subjects from the records of general practitioners. HFE mutations were detected using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Among the ALD patients, 0.84% were homozygous and 3.36% were heterozygous for the C282Y mutation, while 5.04% were homozygous and 21.85% heterozygous for the H63D mutation. There was 1 C282Y/H63D compound heterozygote in the ALD group. In the control group, 2 homozygotes and 117 heterozygotes for the C282Y mutation were identified. As for the H63D mutation, 2.5% homozygotes, 25% heterozygotes, and 1.4% compound heterozygotes were found. There was a trend towards a more common occurrence of ALD patients homozygous for the H63D mutation. Patients with H63D genotype had higher total and low-density lipoprotein cholesterol. The prevalence of HFE mutations in ALD patients is similar to that observed in healthy subjects and comparable to the prevalence in other Central European countries. Our findings on lipid disturbances in the H63D heterozygotes are potentially interesting and require further studies on larger patient groups.
Kardiologia polska, 2012
CD36 is a multifunctional molecule engaged in the removal of oxidised LDL from plasma. It is uncl... more CD36 is a multifunctional molecule engaged in the removal of oxidised LDL from plasma. It is unclear whether mutation of the CD36 gene protects against, or increases, the risk of hypercholesterolaemia, atherosclerosis and its complications. To search for associations between the CD36 gene polymorphisms and radiological markers of atherosclerosis progress in Caucasian patients with coronary artery disease (CAD) diagnosed at a young age. The study group comprised 70 patients with early CAD. Doppler ultrasound of carotid and peripheral arteries was carried out and genomic DNA was isolated from each patient. We found two single nucleotide substitutions in introns (IVS3-6 T/C - rs3173798 and IVS4-10 G/A - rs3211892) and two synonymous polymorphisms in exon 6 (G573A - rs5956 and A591T). The allele frequencies were: 10.7% for the IVS3-6C, 3.6% for the IVS4-10A, 3.6% for the 573A, and 2.1% for the 591T. The 573A allele of CD36 rs5956 polymorphism is associated with low thickness of atheroma...
Clinical pharmacology and therapeutics, 1999
It has been shown that slow acetylation rate may be a factor that influences the development of a... more It has been shown that slow acetylation rate may be a factor that influences the development of allergic diseases. The influence of NAT2 genetic polymorphism on the risk of development of atopic diseases was evaluated among the white Polish population of 85 patients with atopy (62 children and 23 parents) and 181 healthy individuals (127 children and 54 adults). The NAT2 alleles (*4, *5, *6, and *7) were identified by polymerase chain reaction-restriction fragment length polymorphism methods with DNA extracted from peripheral blood. A significant predominance of homozygous slow acetylators (85%) among patients with atopic diseases was observed. There were no homozygous fast acetylators within this group of individuals. Comparison of the frequency of slow acetylators between the above group of patients and healthy subjects (54%) showed that the significant predominance of slow acetylators was observed in the first group (P < .001). The risk of development of atopic diseases was 5-...
Acta Endocrinologica (Bucharest), 2012
Hereditary Cancer in Clinical Practice, 2005
H He er re ed di it ta ar ry y C Ca an nc ce er r i in n C Cl li in ni ic ca al l P Pr ra ac ct t... more H He er re ed di it ta ar ry y C Ca an nc ce er r i in n C Cl li in ni ic ca al l P Pr ra ac ct ti ic ce e 2005; 3(2) A Ab bs st tr ra ac ct t I In nt tr ro od du uc ct ti io on n. . The aim of the study is to evaluate the incidence and phenotype-genotype characteristics of hereditary breast and ovarian cancer syndromes in Latvia in order to develop the basis of clinical management for patients and their relatives affected by this syndrome. M Ma at te er ri ia al l a an nd d m me et th ho od ds s. . In -2004 in two Latvian oncology hospitals (Liepãja Oncology Hospital and Daugavpils Oncology Hospital) cancer family histories were collected from 287 consecutive patients with breast and ovarian cancer. In all cases, when it was possible to obtain the blood sample, DNA testing for founder mutations in the BRCA1 gene was performed. R Re es su ul lt ts s. . Among 287 family cancer histories analysed in 8 (2.8%) cases criteria of hereditary breast cancer (HBC) were fulfilled and in 5 (1.7%) cases hereditary breast and ovarian cancer (HBOC) was diagnosed. In 50 (17.4%) cases we have suspicion of hereditary breast cancer (HBC susp.) and in 8 (2.8%) cases -suspicion of hereditary breast and ovarian cancer (HBOC susp.). We have one (0.3%) case with hereditary ovarian cancer (HOC). DNA testing of founder mutations in the BRCA1 gene (exon 20 (5382 insC) exon 5 (300T/G), exon 11, 17 (4153delA)) for 178/287 (62%) patients was performed. In 9/287 (4.9%) cases we found a mutation in the BRCA1 gene. 4 mutations were detected in exon 11, 17 (4153delA) and 4 mutations in exon 20 (5382 insC) and 1 in exon 5. C Co on nc cl lu us si io on ns s. . Existing pedigree/clinical data suggest that in Latvia the clinical frequency of hereditary breast and ovarian cancer is around 5% of consecutive breast and ovarian cancer patients and suspicion of the syndrome is observed in another 20% of cases. Frequency of BRCA1 founder mutations is 5% of all consecutive breast and ovarian cancers. Considerable geographical differences in the clinical and molecular frequency of hereditary breast ovarian cancer have been observed in Latvia.