[Genotype and haplotype analysis of peroxisome proliferators activated receptor α gene and the risk of essential hypertension].

OBJECTIVE:PPARα, which is expressed in the liver, heart, skeletal muscle, and kidney, regulates lipid and lipoprotein metabolism. The aim of this study was to investigate the association between the PPARα gene and essential hypertension (EH) using a haplotype-based cohort study in a Chinese-Han population. METHODS:820 subjects (270 males, 550 females) were genotyped for the three single-nucleotide polymorphisms used as genetic marker for the PPARα gene (rs1800206, rs4253778 and rs135539). Individual polymorphism and haplotype data were available for analyses. RESULTS:In the dominant model, the presence of the G allele of rs1800206 and the C allele of rs135539 were at a decreased risk of EH (OR = 0.48, 95%CI 0.40 - 0.64, P < 0.01; OR = 0.75, 95%CI 0.62 - 0.93, P < 0.01, respectively). A 3.16-fold increase (95%CI 1.86 - 6.94, P = 0.002) in the risk of the development of EH was observed in homozygous genotype (CC) of rs4253778 compared to carriers of GG genotype (co-dominant model). The A-G-V and C-G-V haplotype (established by rs135539, rs4253778, rs1800206) was associated with a statistically significant decreased risk of EH (OR = 0.56, 95%CI 0.33 - 0.83, P = 0.027; OR = 0.53, 95%CI 0.30 - 0.84, P = 0.033, respectively). CONCLUSION:These results may help to clarify the role of PPARα gene in EH and the evaluation of its polymorphisms and haplotypes as being characterized as genetic decreased risk factors for EH.