ATP2B1 基因单核苷酸多态性及基因-吸烟交互作用与原发性高血压的关联研究

宋娟娟; 张海英; 周宏博; 李天晓; 邓颖

Abstract

宋娟娟,张海英,周宏博,李天晓,邓颖.ATP2B1 基因单核苷酸多态性及基因-吸烟交互作用与原发性高血压的关联研究[J].Chinese journal of Epidemiology,2014,35(5):489-592

ATP2B1 基因单核苷酸多态性及基因-吸烟交互作用与原发性高血压的关联研究

Association between polymorphism of ATP2B1 gene，its interaction with smoking and essential hypertension—a case-control study

Received:October 28, 2013

DOI：10.3760/cma.j.issn.0254-6450.2014.05.027

KeyWord: 原发性高血压 ATP2B1基因单核苷酸多态性吸烟交互作用

English Key Word: Essential hypertension ATP2B1 gene Polymorphism Smoking Interaction

FundProject:黑龙江省自然科学基金（D201204）

Author Name	Affiliation	E-mail
Song Juanjuan	Department of Emergency, the Second Affiliated Hospital
Zhang Haiying	Department of Emergency, the Second Affiliated Hospital
Zhou Hongbo	Department of Biochemistry and Molecular Biology
Li Tianxiao	Department of Biochemistry and Molecular Biology Grade 2009, Seven-Year Program Basic Medicine, Harbin Medical University, Harbin 150086, China
Deng Ying	Department of Emergency, the Second Affiliated Hospital	ldlrrr@163.com

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Abstract:

目的探讨ATP2B1基因单核苷酸多态性及基因-吸烟交互作用与原发性高血压的关联性。方法以医院资料为基础采用病例对照方法，分析哈尔滨医科大学附属第二医院1280例原发性高血压住院患者和1 010名当地汉族健康体检对照者。使用德国QIAGEN公司试剂盒提取人血全基因组DNA，应用Snapshot技术检测ATP2B1基rs17249754位点和对照位点rs6253单核苷酸多态性，利用SPSS 19.0统计软件进行数据分析。结果 ATP2B1基因rs17249754位点等位基因G的频率在病例组和对照组间的差异有统计学意义（OR＝1.223，95%CI：1.083～1.381，P＝0.001），调整性别、年龄、BMI、吸烟、饮酒后，差异有统计学意义（OR＝1.212，95%CI：1.070～1.373，P＝0.003）。对照位点 rs6253 等位基因频率在两组间的差异无统计学意义。在不同的生物学模式下，基因型频率的分布均表现出显著差异性：加性模型 OR＝1.469，95%CI：1.121～1.925，P＝0.005；显性模型 OR＝1.324，95%CI：1.029～1.704，P＝0.029；隐性模型 OR＝1.123，95%CI：1.031～1.223，P＝0.008。病例组中，吸烟者所占的比例显著高于对照组（P＝0.005）。调整性别、年龄、BMI、饮酒后，基因位点 rs17249754 和吸烟的交互作用对原发性高血压的影响无统计学意义（OR＝1.024，95%CI：0.614～1.707）。结论 ATP2B1基因rs17249754位点单核苷酸多态性与北方汉族人群原发性高血压的易感性显著关联；基因与吸烟的交互作用未发现与原发性高血压相关联。

English Abstract:

Objective To investigate the association between polymorphism of ATP2B1 gene，its interaction with smoking and susceptibility of essential hypertension. Methods A case-control study was conducted to elucidate the role of ATP2B1 gene variants related to the risk of essential hypertension. Genomic DNA was extracted from peripheral blood leukocytes，using the QIAamp DNA Mini Kit（QIAGEN，Germany）. Two SNPs，-rs17249754 and rs6253，were examined on 1 280 patients and 1 010 healthy controls，using a Snapshot method. Statistical analyses were performed with SPSS Windows software（version 19.0；SPSS，Chicago，IL）. Results A significant difference was found in rs17249754 allele frequency between cases and controls（OR＝1.223，95%CI：1.083-1.381，P＝0.001）. After adjustment for age，sex，BMI，smoking and drinking，the difference was still statistically significant（OR＝1.212，95%CI：1.070-1.373，P＝0.003）. In addition，data from genotype distribution analysis under different models showed that appeared significant associations between ATP2B1 gene polymorphism and essential hypertension（additive model OR＝1.469, 95%CI：1.121-1.925, P＝0.005; dominant model OR＝1.324，95% CI：1.029-1.704, P＝0.029; recessive model OR＝1.123, 95%CI：1.031-1.223, P＝0.008）. In this study, the proportion of smokers in cases was significantly higher than that in controls（P＝0.005), but no associations between rs17249754- smoking interaction and essential hypertension were found after the adjustment for gender，age，BMI and alcohol consumption （OR＝1.024, 95% CI：0.614-1.707）. Conclusion Our research findings showed that the polymorphism of ATP2B1 gene rs17249754 was significantly associated with the incidence of essential hypertension in Han population of northeastern China. However，the interaction between rs17249754 and smoking did not seem to have contributed to the occurrence of the essential hypertension.

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