title: Methylenetetrahydrofolate Reductase gene polymorphism in patients receiving hemodialysis.
abstract: Methylenetetrahydrofolate Reductase (MTHFR) is key enzyme in metabolism of homocysteine. Homozygotes for mutation (TT genotype) have hyperhomocysteinemia, risk factor for atherosclerosis development. The aim of the study was to find out distribution of genotype frequencies of C677T MTHFR among patients on maintenance hemodialysis. Possible association of alleles and genotypes of C677T polymorphism of the MTHFR gene with age of onset, duration of dialysis and cause of kidney failure was studied also. Cross-sectional study includes 80 patients from Clinic of Hemodialysis KUCS in Sarajevo. In order to perform genotyping, isolated DNA was analyzed by RFLP-PCR and gel-electrophoresis. From total of 80 patients, 42.5% (n=24) were female, 57.5% (n=46) were male, mean age 54.59+/-1.78 years and duration of dialysis 79.92+/-6.32 months. Genotype distribution was: CC 51.2% (n=41), CT 37.5% (n=30) and TT 11.2% (n=9). Patients with wild-type genotype have longer duration of dialysis in month (87.1 +/- 63.93) comparing to TT genotype patients (67.06 +/- 39.3), with no statistical significance. T allele frequency was significantly higher in group of vascular and congenital cause of kidney failure (Pearson X2 =6.049, P<0.05) comparing to inflammation etiology group. Genotype distribution results are within the results other studies in Europe. Obtained results indicate that C677T polymorphism is not associated with onset, duration and cause of kidney failure in our hemodialysis population. There is an association of T allele of the MTHFR gene and vascular and congenital cause kidney failure.
authors.affiliation: Department of Medical Biochemistry, Faculty of Medicine, University of Sarajevo, Cekalusa 90, Sarajevo, Bosnia and Herzegovina.
authors.forename: Emina
authors.initials: E
authors.lastname: Kiseljaković
authors.forename: Halima
authors.initials: H
authors.lastname: Resić
authors.forename: Lejla
authors.initials: L
authors.lastname: Kapur
authors.forename: Sabaheta
authors.initials: S
authors.lastname: Hasić
authors.forename: Radivoj
authors.initials: R
authors.lastname: Jadrić
mesh_terms: D000368:Aged; D000483:Alleles; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D008957:Models, Genetic; D011110:Polymorphism, Genetic; D006435:Renal Dialysis; D051437:Renal Insufficiency / Q000453:epidemiology / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)