title: Association between Hcy levels and theCBS844ins68andMTHFR C677Tpolymorphisms with essential hypertension.
abstract: The aim of the present study was to investigate the association between the homocysteine (Hcy) levels and polymorphisms of theCBS844ins68andMTHFR C677Tgenes in essential hypertension (EH). The effects of theMTHFR C677TandCBS844ins68haploid genotypes and the combined genotypes on EH and levels of Hcy were further explored. The polymorphisms ofCBS844ins68andMTHFR C677Tgenes in 200 EH and 200 normal tensive (NT) patients were detected using polymerase chain reaction-restriction fragment length polymorphism and analysis of the distribution of genotypes. An automated biochemical analyzer was used to measure the plasma Hcy levels and the clinical biochemistry data. The plasma Hcy levels in EH were significantly higher than those of the NT group (P<0.05). There were no significant differences (P>0.05) between males and females. Two genotypes, deletion/deletion (DD) and deletion/insertion (DI), of theCBS844ins68polymorphism were found in two groups with no clear differences in two genotypes and allele frequency distribution (P>0.05). There were significant differences in the three genotype frequencies (χ2=6.658, χ2=4.410, P<0.05) forMTHFR C677Tlocus genotypes CC, CT and TT. The Hcy levels in genotypes DD and DI had no significant differences (P>0.05) and the CT and TT types were significantly higher compared to the CC genotype (P<0.05). The CC/DD combined genotype in the two groups was significantly different (P<0.05), and the odds ratio (OR), 0.569 showed that the CC/DD genotype may be a protective factor of hypertension. In the two groups, the Hcy levels for combined genotypes CC/DD, CT/DD, TT/DD and TT/DI were significantly different (P<0.05). The SHEsis software analysis linkage disequilibrium coefficient=0.216, indicates that there is probably a weak linkage forMTHFR C677TandCBS844ins68. Haplotype analysis suggested that the C-D haplotype was negatively correlated with EH (OR, 0.727) and that there was a positive correlation between T-D haplotype and EH (OR, 1.376).MTHFR C677TandCBS844ins68polymorphisms were present in the populations studied and theCBS844ins68homozygous mutation was not present. Therefore, there is a correlation between the polymorphisms of theMTHFR C677Tgene and EH, and allele T may be one of the predisposing factors.MTHFR C677TandCBS844ins68may exist with a certain linkage and the T-D haplotype may be a risk factor for EH.
authors.affiliation: Department of Clinical Laboratory, The First Affiliated Hospital, Shihezi University School of Medicine, Shihezi, Xinjiang 832002, P.R. China.
authors.forename: Weijuan
authors.initials: W
authors.lastname: Cai
authors.affiliation: Department of Endocrinology and Metabolism, The First Affiliated Hospital, Shihezi University School of Medicine, Shihezi, Xinjiang 832002, P.R. China.
authors.forename: Liang
authors.initials: L
authors.lastname: Yin
authors.affiliation: Department of Clinical Laboratory, The First Affiliated Hospital, Shihezi University School of Medicine, Shihezi, Xinjiang 832002, P.R. China.
authors.forename: Fang
authors.initials: F
authors.lastname: Yang
authors.affiliation: Department of Clinical Laboratory, The First Affiliated Hospital, Shihezi University School of Medicine, Shihezi, Xinjiang 832002, P.R. China.
authors.forename: Lei
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Department of Clinical Laboratory, The First Affiliated Hospital, Shihezi University School of Medicine, Shihezi, Xinjiang 832002, P.R. China.
authors.forename: Jiang
authors.initials: J
authors.lastname: Cheng
keywords: CBS844ins68; MTHFR C677T; homocysteine; polymorphisms