ECE1 基因多态性与北方汉族原发性高血压易感性的关联：一项病例对照研究。

Association of ECE1 gene polymorphisms and essential hypertension risk in the Northern Han Chinese: A case-control study.

机构信息

Department of Hypertension Research, Beijing Anzhen Hospital, Capital Medical University and Beijing Institute of Heart Lung and Blood Vessel Diseases, Beijing, People's Republic of China.

出版信息

Mol Genet Genomic Med. 2020 Apr;8(4):e1188. doi: 10.1002/mgg3.1188. Epub 2020 Feb 27.

DOI:10.1002/mgg3.1188

PMID:32107880

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7196447/

Abstract

BACKGROUND

The ECE1 gene polymorphisms have been studied as a candidate gene in essential hypertension, but no consensus has been reached. To systematically explore their possible association, a case-control study was conducted.

METHODS

This study included 398 hypertensive subjects and 596 healthy volunteers as control subjects in the Northern Han Chinese. A total of 10 tag SNPs of ECE1 gene were genotyped successfully by TaqMan assay.

RESULTS

A total of 10 SNPs (rs212544, rs2076280, rs115071, rs2076283, rs9426748, rs11590928, rs212515, rs2236847, rs2282715, and rs2774028) were identified as the tag SNPs for ECE1 gene. Although no positive connection has been found in general population, several SNPs have been found to be related to EH risk in gender-stratified subgroup analysis. In males, rs115071 T allele influenced EH risk in a protective manner, with dominant model (TT+TC vs. CC: p = .032, OR = 0.655, 95% CI = 0.445-0.965), additive model (TT vs. TC vs. CC: p = .019, OR = 0.616, 95% CI = 0.411-0.924), as well as allele comparison (T vs. C: p = .045, OR = 0.702, 95% CI = 0.496-0.992). While, in females, rs212544 AA genotype would increase the onset risk of EH (recessive model: AA vs. GA+GG, p = .024, OR = 1.847, 95% CI = 1.086-3.142). In the three haplotype blocks identified, rs2076283-rs2236847 C-T haplotype was associated with a decreased risk of EH (OR = 0.558, p = .046).

CONCLUSION

The current case-control study suggested that several SNPs and related haplotypes on ECE1 gene might be associated with the susceptibility of EH in certain gender subgroups in the Northern Han Chinese population.

摘要

背景

ECE1 基因多态性已被研究为原发性高血压的候选基因，但尚未达成共识。为了系统地探讨其可能的关联，进行了病例对照研究。

方法

本研究纳入了 398 名高血压患者和 596 名健康志愿者作为北方汉族的对照组。通过 TaqMan 分析成功检测到 ECE1 基因的 10 个标签 SNP。

结果

共鉴定出 10 个 SNP(rs212544、rs2076280、rs115071、rs2076283、rs9426748、rs11590928、rs212515、rs2236847、rs2282715 和 rs2774028)为 ECE1 基因的标签 SNP。尽管在一般人群中未发现阳性关联，但在性别分层亚组分析中发现了几个与 EH 风险相关的 SNP。在男性中，rs115071 T 等位基因以保护方式影响 EH 风险，显性模型(TT+TC 与 CC：p=0.032，OR=0.655，95%CI=0.445-0.965)、加性模型(TT 与 TC 与 CC：p=0.019，OR=0.616，95%CI=0.411-0.924)以及等位基因比较(T 与 C：p=0.045，OR=0.702，95%CI=0.496-0.992)。然而，在女性中，rs212544 AA 基因型会增加 EH 的发病风险(隐性模型：AA 与 GA+GG，p=0.024，OR=1.847，95%CI=1.086-3.142)。在确定的三个单倍型块中，rs2076283-rs2236847 C-T 单倍型与 EH 风险降低相关(OR=0.558，p=0.046)。