ACE2 多态性与冷加压试验血压反应相关：GenSalt 研究。

Polymorphisms of ACE2 are associated with blood pressure response to cold pressor test: the GenSalt study.

机构信息

Department of Evidence Based Medicine and Division of Population Genetics, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

出版信息

Am J Hypertens. 2012 Aug;25(8):937-42. doi: 10.1038/ajh.2012.61. Epub 2012 May 31.

DOI:10.1038/ajh.2012.61

PMID:22647782

Abstract

BACKGROUND

Increased blood pressure (BP) reactivity to cold pressor test (CPT) is a risk factor for hypertension. Genetic factors may influence the variation of BP response to CPT among individuals. We explored the association of genetic variants in the apelin system genes (APLN, APLNR and ACE2) and BP response to CPT in a Chinese population.

METHODS

A total of 1,998 Han Chinese participants from the Genetic Epidemiology Network of Salt Sensitivity completed a CPT. The percentage changes of BP right after the end of ice-water immersion were used as the measurement of BP responses to CPT. Twenty-two single nucleotide polymorphisms (SNPs) were selected and genotyped, including both tag and potential functional SNPs of the APLN, APLNR, and ACE2 genes. A mixed-effect linear model was used to assess the association between SNPs and BP responses to CPT.

RESULTS

In women, three SNPs (rs1514283, rs4646176, and rs879922) of the ACE2 gene were significantly associated with the diastolic BP (DBP) response to CPT in the general and recessive genetic models after adjustment for multiple testing (all false discovery rate q < 0.05). There were no significant associations of polymorphisms in APLN and APLNR genes with BP responses to CPT.

CONCLUSIONS

Our study identified genetic variants in the ACE2 gene that were significantly associated with DBP responses to cold stress in the Chinese female population. Future studies are warranted to confirm these findings.

摘要

背景

冷加压试验（CPT）时血压反应增加是高血压的一个危险因素。遗传因素可能影响个体对 CPT 的血压反应的变化。我们在中国人群中探讨了阿片肽系统基因（APLN、APLNR 和 ACE2）的遗传变异与 CPT 时血压反应之间的关系。

方法

共有 1998 名来自盐敏感性遗传流行病学网络的汉族参与者完成了 CPT。冰-水浸泡结束后即刻血压的百分比变化被用作 CPT 时血压反应的测量。选择并检测了 22 个单核苷酸多态性（SNP），包括 APLN、APLNR 和 ACE2 基因的标记和潜在功能 SNP。采用混合效应线性模型评估 SNP 与 CPT 时血压反应之间的关系。