Association between Hcy levels and the CBS844ins68 and MTHFR C677T polymorphisms with essential hypertension

Abstract

The aim of the present study was to investigate the association between the homocysteine (Hcy) levels and polymorphisms of the and genes in essential hypertension (EH). The effects of the and haploid genotypes and the combined genotypes on EH and levels of Hcy were further explored. The polymorphisms of and genes 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 the polymorphism 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 (χ=6.658, χ=4.410, P<0.05) for locus 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 for and. 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). and polymorphisms were present in the populations studied and the homozygous mutation was not present. Therefore, there is a correlation between the polymorphisms of the gene and EH, and allele T may be one of the predisposing factors. and may exist with a certain linkage and the T-D haplotype may be a risk factor for EH.

Association between the MTHFR C677T gene polymorphism and essential hypertension in South West Cameroon

“…On the other hand, gender, FBS, HDL-C, and BMI were not observed to be risk factors. These results are comparable to the study of Cai et al (2014), where significant differences between the two groups were observed for LDL-C, TC and TG but not HDL-C in a Chinese Han population in Xinjiang Shihezi, China. Their results also revealed dependency of EH on FBS but not age.…”

Hyperhomocysteinemia independently associated with the risk of hypertension: a cross-sectional study from rural China

“…Methylenetetrahydrofolate reductase C677T and CBS844ins68 may exist with a certain linkage and the T-D haplotype may be a risk factor for HTN. 37 However, the exact mechanisms underlying the potential association between Hcy and HTN risk require future studies.…”

Gene variants in the folate pathway are associated with increased levels of folate receptor autoantibodies

“…Mutations at MTHFR rs1801133 can result in 50%-60% reduced enzyme activity (van der Put et al, 1998), which can have significant developmental consequences. Previous studies have shown that Hcy levels were significantly higher in the TT genotype at MTHFR rs1801133 compared to that in the CT and CC (Cai, Yin, Yang, Zhang, & Cheng, 2014). The FR protein contains several putative surface lysine residues which may be susceptible to the posttranslational modification known as homocysteinylation (Cabrera et al, 2008).…”