Relationship between CYP17A1 Genetic Polymorphism and Essential Hypertension in a Chinese Population

Abstract

ABSTRACT:The relationship between CYP17A1 genetic polymorphisms and essential hypertension (EH) remains unclear. The aim of this study was to investigate the association of CYP17A1 genetic polymorphisms with EH in Han and Uighur populations in China. A Han population including 558 people (270 EH patients and 288 controls) and a Uighur population including 473 people (181 EH patients and 292 controls) were selected. Five single-nucleotide polymorphisms (SNPs) (rs4919686, rs1004467, rs4919687, rs10786712, and rs2486758) were genotyped using real-time PCR (TaqMan). In the Uighur population, for the total and the men, rs4919686, rs4919687 and rs10786712 were found to be associated with EH (rs4919686: P≤0.02, rs4919687: P≤0.002, rs10786712: P≤0.004, respectively). The difference remained statistically significant after the multivariate adjustment (all P<0.05). The overall distributions of the haplotypes established by SNP1-SNP3, SNP1-SNP4, SNP1-SNP3-SNP5 and SNP1-SNP4-SNP5 were significantly different between the EH patients and the control subjects (for the total: P=0.013, P=0.008, P=0.032, P=0.010, for men: P<0.001, P=0.001, P=0.010, P=0.00). In the Han population, for men, rs2486758 was found to be associated with EH in a recessive model (P=0.007); the significant difference was not retained after the adjustment for the covariates (date not shown). The A allele of rs4919686 could be a susceptible genetic marker, and the T allele of rs10786712 could be a protective genetic marker of EH. The AC genotype of rs4919686, the AG genotype of rs4919687 and the TT genotype of rs10786712 could be protective genetic markers of EH.

Association of CYP17A1 Genetic Polymorphisms and Susceptibility to Essential Hypertension in the Southwest Han Chinese Population

“…The AC genotype of rs4919686 was found to be a protective genetic marker for EH among the Uighur population [36]. Our present study among Han Chinese populations showed no association of these two polymorphisms with EH.…”

The CYP17A1 gene polymorphisms are associated with hypercholesterolemia in Han Chinese

“…The rs1004467 G‐allele was significantly associated with a reduced risk for hypercholesterolemia and the lower serum TC levels in the present study. However, in several studies completed in Japanese and Yunnan, Xinjiang Han populations, there were no insignificant associations between rs1004467 and hypertension or BP levels . In a study including 3503 Chinese children aged 6–18 years, the rs1004467 G‐allele was associated with BMI .…”

“…However, in several studies completed in Japanese and Yunnan, Xinjiang Han populations, there were no insignificant associations between rs1004467 and hypertension or BP levels. 18,20,21 In a study including 3503 Chinese children aged 6-18 years, the rs1004467 G-allele was associated with BMI. 22 The inconsistency can be attributed to the different genetic backgrounds, age structure, living habits and environmental factors.…”

Association of genetic polymorphisms of SelS with Type 2 diabetes in a Chinese population

“…In previous studies, this region has not been identified in genome-wide linkage scans for diabetes-related phenotypes in human population. However, many studies suggested genetic variations in this region were associated with blood glucose levels [ 12 ], lipids’ profiles, and obesity [ 17 , 21 ]. Therefore, the SelS gene is considered as a candidate gene of T2DM.…”

“…Using the Haploview 4.2 software and the HapMap phrase II database, we obtained four tagging SNPs (rs12910524, rs1384565, rs2101171, and rs4965814) for Chinese Han using minor allele frequency (MAF) ≥ 0.05 and linkage disequilibrium patterns with r 2 ≥ 0.8 as a cutoff. Genotyping was confirmed using TaqMan® assays from Applied Biosystems following the manufacturer’s suggestions and analyzed in an ABI 7900HT Fast Real-Time PCR System as described previously [ 21 ].…”