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

作　　者：LI Nan-fang ZHANG Ju-hong CHANG Jian-hang YANG Jin WANG Hong-mei ZHOU Ling LUO Wen-li 

机构地区：[1]Department of Hypertension,People's Hospital of Xinjiang Uygur Autonomous Region [2]Center of Diagnosis, Treatment and Research of Hypertension in Xinjiang, Urumqi, Xinjiang 830001, China

出　　处：《Chinese Medical Journal》2011年第14期2107-2112,共6页中华医学杂志（英文版）

摘　　要：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.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.

关 键 词：essential hypertension PROSTASIN genetic variation intermediate phenotypes 

分 类 号：Q754[生物学—分子生物学] K892.336[历史地理—民俗学]