title: Polymorphism in methylenetetrahydrofolate reductase, plasminogen activator inhibitor-1, and apolipoprotein E in hemodialysis patients.
abstract: The methylenetetrahydrofolate reductase (MTHFR) gene polymorphism, apolipoprotein E (apo epsilon4) gene polymorphism and polymorphism of plasminogen activator inhibitor-1 (PAI-1) have been shown to be associated with end-stage renal disease (ESRD). To determine the prevalence of these mutations in Saudi patients with ESRD on hemodialysis, we studied the allelic frequency and genotype distribution in patients receiving hemodialysis and in a control group, all residing in the Eastern Province of Saudi Arabia. The genotypes were determined using allele specific hybridization procedures and were confirmed by restriction fragment length polymorphism. The T allele frequency and homozygous genotype of MTHFR in ESRD patients were 14% and 2.4%, respectively compared to 13.4% and 0%, respectively in the control group. The allele frequency and homozygous genotype of 4G/4G PAI-1 gene polymorphism were 46.4% and 4.8% respectively in ESRD patients compared to 57.1% and 32% respectively in the control group. The apo s4 allele frequency and homozygous genotype distribution in hemodialysis patients were 7% and 2.4%, respectively compared to 13% and 2% in the control group. Although allele frequency of C677T of MTHFR was statistically similar in the hemodialysis patients and in the control group, the homozygotes T allele genotype was over represented in the hemodialysis group compared to normal. The prevalence of PAI-1 4G/4G polymorphism in ESRD patients was lower when compared to the control group. The prevalence of apo s4 allele did not differ significantly between the two groups. The present results demonstrate that all three studied polymorphic mutations are present in our population and that they may contribute to the etiology of the disease in our area.
authors.affiliation: Department of Internal Medicine, College of Medicine, King Faisal University, Dammam, Saudi Arabia.
authors.forename: Fahad
authors.initials: F
authors.lastname: Al-Muhanna
authors.forename: Samir
authors.initials: S
authors.lastname: Al-Mueilo
authors.forename: Amein
authors.initials: A
authors.lastname: Al-Ali
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Larbi
authors.forename: Abdullah
authors.initials: A
authors.lastname: Rubaish
authors.forename: Mohammed Fakhry
authors.initials: MF
authors.lastname: Abdulmohsen
authors.forename: Alhussain
authors.initials: A
authors.lastname: Al-Zahrani
authors.forename: Suad
authors.initials: S
authors.lastname: Al-Ateeq
mesh_terms: D053327:Apolipoprotein E4 / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007676:Kidney Failure, Chronic / Q000453:epidemiology / Q000235:genetics*; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics*; D011110:Polymorphism, Genetic; D006435:Renal Dialysis; D012529:Saudi Arabia / Q000453:epidemiology; D016036:Seroepidemiologic Studies
chemical_list: D053327:Apolipoprotein E4; D017395:Plasminogen Activator Inhibitor 1; D042965:Methylenetetrahydrofolate Reductase (NADPH2)