首都医科大学学报 ›› 2012, Vol. 33 ›› Issue (4): 421-426.doi: 10.3969/j.issn.1006-7795.2012.02.001

• 心脏病学专题 • 上一篇    下一篇

脂联素基因多态性与2型糖尿病合并冠心病的关联研究

南楠1, 金泽宁1, 杨泽2   

  1. 1. 首都医科大学附属北京安贞医院心血管内科, 北京市心肺血管疾病研究所, 北京 100029;2. 卫生部北京医院, 老年医学研究所遗传室, 北京 100730
  • 收稿日期:2012-05-10 修回日期:1900-01-01 出版日期:2012-08-21 发布日期:2012-08-21
  • 通讯作者: 金泽宁

Genetic association of ADIPOQ gene polymorphisms with type 2 diabetes mellitus with coronary artery disease

NAN Nan1, JIN Ze-ning1, YANG Ze2   

  1. 1. Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart Lung and Blood Vessels, Beijing 100029, China;2. National Institutes of Geriatrics, Beijing Hospital, Ministry of Health, Beijing 100730, China
  • Received:2012-05-10 Revised:1900-01-01 Online:2012-08-21 Published:2012-08-21

摘要: 目的 探讨脂联素(adiponectin,ADIPOQ)基因多态性与2型糖尿病合并冠状动脉粥样硬化性心脏病(以下简称冠心病)的关联。方法 本研究分两步进行,首先预实验对ADIPOQ基因进行生物信息学分析,对20例2型糖尿病合并冠心病患者进行第2个外显子区域的测序,拼接后与参考数据库比对,筛选出候选单核苷酸多态性。大样本复制研究采用病例-对照研究设计,680例2型糖尿病患者入选,其中包括2007年2月至2009年5月首都医科大学附属北京安贞医院心内科2型糖尿病合并冠心病患者213例,以及2008年1月至2009年10月卫生部北京医院内分泌科门诊2型糖尿病患者467例。基于聚合酶链式反应-高分辨率熔解曲线(PCR-HRM)技术,观察候选单核苷酸多态性在2组间的分布差异。结果 预实验结果筛选出5个单核苷酸多态性,包括:17366568G/A、9882205G/A、2241767A/G、1501299G/T、2241766T/G。其中2个单核苷酸多态性与2型糖尿病合并冠心病关联,包括rs2241766T/G(+45T/G)多态性[OR(95%CI)=2.78(1.20~8.65),P=0.015]和rs9882205G/A多态性[OR(95%CI)=3.9(1.78~13.61),P=0.000]。对rs2241766进行大样本复制研究后,未发现与2型糖尿病合并冠心病的关联或相关的趋势。结论 ADIPOQ基因rs2241766多态性可能不是与2型糖尿病合并冠心病关联的因素。

关键词: ADIPOQ基因多态性, 2型糖尿病, 冠心病

Abstract: Objective To investigate the genetic association of adiponectin gene (ADIPOQ) with coronary artery disease in type 2 diabetes mellitus. Methods A 2-step study was conducted. Firstly, the pilot study included bio-information analysis, sequencing the 2nd exon regions in 20 T2DM complicated with CAD patients and contrasting to reference database to screen the candidate single nucleotide polymorphisms(SNPs). Secondly, the replication study was based on case-control study design. Of 680 type 2 diabetes mellitus patients, 213 individuals with coronary artery disease(CAD) from Beijing Anzhen Hospital and 467 controls from Beijing Hospital were recruited in our study. The polymerase chain reaction-high resolution melting(PCR-HRM) assay was carried out to genotype all the subjects for the candidate SNPs in ADIPOQ gene. Results In pilot study, 5 SNPs were screened, including 17366568G/A, 9882205G/A, 2241767A/G, 1501299G/T, 2241766T/G. Polymorphisms of rs2241766T/G(+45T/G) and rs9882205G/A were associated with risk of CAD[OR and 95% CI were 2.78(1.20~8.65) and 3.9(1.78~13.61), P<0.05]. In replication study, rs2241766 polymorphism was not associated with CAD in type 2 diabetes mellitus patients. Conclusion rs2241766 polymorphism may not be associated with coronary artery disease in type 2 diabetes mellitus.

Key words: ADIPOQ gene polymorphisms, type 2 diabetes mellitus, coronary heart disease

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