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中国人α-内收蛋白基因多态性与原发性高血压的相关性研究。

Association between polymorphisms of alpha-adducin gene and essential hypertension in Chinese population.

机构信息

Department of Preventive Medicine, School of Medicine, Ningbo University, Ningbo 315211, China.

出版信息

Biomed Res Int. 2013;2013:451094. doi: 10.1155/2013/451094. Epub 2012 Dec 20.

Abstract

The association between polymorphisms of α-adducin (ADD1) gene and essential hypertension is still unclear. Thus, we carried out a case-control study and an interaction analysis to test whether ADD1 is a common candidate gene for hypertension in the Chinese population. Blood samples and information including body mass index (BMI), smoking habit, and alcohol abuse were collected. Meanwhile, total cholesterol, high density lipoprotein, triglyceride were measured by automatic biochemistry analyzer. All 6 tag single nucleotide polymorphisms (tagSNPs) within ADD1 gene were genotyped by SNPstream genotyping system. Multifactor dimensionality reduction (MDR) was used to identify the interactions among the SNPs and the non-genetic factors. Results showed that plasma triglyceride, total cholesterol, and BMI were significantly higher in the hypertensive group than in the control group. Result from genotyping indicated that rs4963 was significantly associated with essential hypertension. After stratification by gender, rs4963 was associated with essential hypertension only in males. MDR analysis indicated that interaction among BMI, rs4963, and rs16843452 were involved in susceptibility of hypertension. The present study indicated that rs4963 within ADD1 gene was associated with essential hypertension in Chinese population, which might be related to altered exonic splicing and disrupted gene regulation.

摘要

α-内收蛋白(ADD1)基因多态性与原发性高血压的关系尚不清楚。因此,我们进行了病例对照研究和交互作用分析,以检验 ADD1 是否是中国人高血压的常见候选基因。采集血样和包括体重指数(BMI)、吸烟习惯和酗酒在内的信息。同时,用自动生化分析仪测定总胆固醇、高密度脂蛋白、甘油三酯。应用 SNPstream 基因分型系统对 ADD1 基因内的 6 个标签单核苷酸多态性(tagSNP)进行基因分型。多因子降维(MDR)用于鉴定 SNP 与非遗传因素之间的相互作用。结果显示,高血压组的血浆甘油三酯、总胆固醇和 BMI 明显高于对照组。基因分型结果表明,rs4963 与原发性高血压显著相关。按性别分层后,rs4963 仅与男性原发性高血压相关。MDR 分析表明,BMI、rs4963 和 rs16843452 之间的相互作用与高血压易感性有关。本研究表明,ADD1 基因内的 rs4963 与中国人群的原发性高血压有关,这可能与外显子剪接改变和基因调控破坏有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e51c/3591139/24196f76cf80/BMRI2013-451094.001.jpg

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