醛固酮合成酶基因单核苷酸多态性与心房颤动的关系

曹菲菲; 陈兴栋; 王群山; 李蕾; 王笑峰; 吕明; 金力

Abstract

曹菲菲,陈兴栋,王群山,李蕾,王笑峰,吕明,金力.醛固酮合成酶基因单核苷酸多态性与心房颤动的关系[J].Chinese journal of Epidemiology,2009,30(10):1069-1072

醛固酮合成酶基因单核苷酸多态性与心房颤动的关系

Associations of the genetic polymorphisms in CYP11B2 gene with nonfamilial structural atrial fibrillation

Received:January 16, 2009

DOI：

KeyWord: 心房颤动醛固酮合成酶基因多态性单核苷酸多态性

English Key Word: Atrial fibrillation CYP11B2 Polymorphism Single mucleotide polymorphisms

FundProject:1. 山东省自然科学基金；2. 山东省科技攻关计划

Author Name	Affiliation	E-mail
CAO Fei-fei	clinical Epidemiology Unit Qilu Hospital of Shandong University, Jinan 250012, China
CHEN Xing-dong	clinical Epidemiology Unit Qilu Hospital of Shandong University, Jinan 250012, China
WANG Qun-shan	上海交通大学附属新华医院心内科
LI Lei	复旦大学现代人类学教育部重点实验室
WANG Xiao-feng	复旦大学现代人类学教育部重点实验室
LU Ming	clinical Epidemiology Unit Qilu Hospital of Shandong University, Jinan 250012, China	lv.ming528@gmail.com
JIN Li	复旦大学现代人类学教育部重点实验室

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Abstract:

目的探讨醛固酮合成酶(CVP11B2)基因的单核苷酸多态性与中国汉族人群非家族性心房颤动(房颤)的关系.方法采用1:1配对的病例对照研究方法,选择297例住院房颤患者作为病例组,同时期、同病房的297例非房颤患者作为对照组.应用GenomeLab~(TM) SNPstream基因分型系统,对CYP11B2基因的两个标签单核苷酸多态位点(tSNPs-rs4545、rs3802228)进行多态性检测.结果两位点多态性的分布均符合Hardy-Weinberg平衡.病例组患者左心房直径(LA)显著高于对照组(P<0.0001),两个tSNPs的基因型频率及等位基因频率分布在病例组和对照组的差异均无统计学意义,但在病例组3'端非编码区(3'UTR)的rs3802228位点中,具有GG基因型患者的LA显著高于其他型者.多元logistic回归模型在校正年龄、吸烟、BMI、高血压之后,未发现CYP11B2基因两位点基因多态性与房颤发病相关联.两个位点间也不存在连锁不平衡.结论 CYP11B2基因的rs4545tSNPs位点多态性可能与房颤无相关性,位于3'端非编码区的rs3802228tSNPs位点可能与心房结构重构有关.

English Abstract:

Objective To investigate whether polymorphisms in CYP11B2 gene are associated with nonfamilial structural atrial fibrillation(AF) in Chinese Han population. Methods A free-designed pair-matched hospital based ease-control study was performed in 297 cases and 297 controls. We investigated two tagging single nucleotide polymorphisms (tSNPs)-rs4545, rs3802228 in CYP11B2 gene by using GenomeLab~(TM) SNPstream technique. Results Two tSNPs were consistent with Hardy-Weinberg expectations in case and control groups. Compared with controls, the left atrial diameter of cases was significantly higher(P<0.0001). No significant difference in genotype or allele frequencies of tSNPs in CYP11B2 gene was observed. However, at the site of rs3802228 in 3' UTR of the case group, the left atrial diameter in AF patients with GG genotype was significantly higher than others. After adjusted for covariates age, smoking, Body mass index and hypertension, we did not observe the association of rs4545, rs3802228 with AE Conclusion Our result suggested that polymorphisms of rs4545 in CYP11B2 gene might not be associated with atrial fibrillation but polymorphism of 3' UTR rs3802228 locus in CYP11B2 gone might be associated with atrial structural remodeling.

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