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Association of genetic variations of the prostasin gene with essential hypertension in the Xinjiang Kazakh population.

Abstract：

BACKGROUND:Transgenic overexpression of human prostasin in rats disturbs salt balance and causes hypertension. We investigated whether genetic variations in prostasin were implicated in hypertension or related phenotypes in the Xinjiang Kazakh population. METHODS:We sequenced all exons and the promoter regions of the prostasin gene in 94 hypertensive individuals, and the genotype identification was performed by the TaqMan polymerase chain reaction method. Case-control studies were conducted in 938 Kazakh subjects. RESULTS:E342K and 2827G > A, which are novel variants, were successfully genotyped in the general Xinjiang Kazakh population with a sample size of 938 individuals (406 men and 532 women). Only one hypertensive patient was identified with the E342K mutation. No significant association was observed between 2827G > A and hypertension. However, quantitative traits of hypertensive intermediate phenotypes were significantly associated with the A allele; P = 0.041 and 0.034 for body mass index (BMI) in the additive and recessive models, P = 0.042 and 0.018 for OGTT-2h glucose in the additive and recessive models, P = 0.031 for IRT-3h insulin in the recessive model, and P = 0.038 for serum potassium in the dominant model. CONCLUSIONS:This study does not provide evidence of a major role of prostasin variation in blood pressure modulation. However, association of prostasin polymorphisms with hypertension and metabolic effects can be observed in our population. Further investigation is warranted to clarify the relevance of prostasin polymorphisms to blood pressure regulation.

journal_name

Chin Med J (Engl)

journal_title

Chinese medical journal

authors

Li NF,Zhang JH,Chang JH,Yang J,Wang HM,Zhou L,Luo WL

subject

Has Abstract

pub_date

2011-07-01 00:00:00

pages

2107-12

issue

14

eissn

0366-6999

issn

2542-5641

journal_volume

124

pub_type

杂志文章

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