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汉族人群ADIPOR1 rs7539542与冠状动脉粥样硬化性心脏病和2型糖尿病的关联分析
引用本文:李响,蒲连美,阮杨,李红,金泽宁.汉族人群ADIPOR1 rs7539542与冠状动脉粥样硬化性心脏病和2型糖尿病的关联分析[J].首都医学院学报,2020,41(6):935-942.
作者姓名:李响  蒲连美  阮杨  李红  金泽宁
作者单位:首都医科大学附属北京安贞医院急诊危重症中心,北京100029;首都医科大学附属北京天坛医院心内科,北京100070
基金项目:国家自然科学基金(81570323),心血管疾病精准医学北京实验室(PXM2020_014226_000017_00377132_FCG)。
摘    要:目的 分析ADIPOR1非内含子区域的单核苷酸多态性位点(single nucleotide polymorphisms,SNPs)是否增加冠状动脉粥样硬化性心脏病(以下简称冠心病)和2型糖尿病的易感风险。方法 采用多病例-对照设计, 选取737 例行冠状动脉造影术,以及年龄、性别及体质量指数相匹配的研究对象:193例对照者(对照组)、142例2型糖尿病患者、203例冠心病患者及199例冠心病合并2型糖尿病患者。采用Sanger法对3个SNPs位于3′非翻译区(untranslated regions,UTR):rs7539542 G>C 和 rs10581 C>T; 位于5′UTR:rs7517286 T>C]进行直接测序。结果 rs7539542 C等位基因不仅与冠心病(OR=1.67~2.34, P=2.87×10-4~0.002) 、冠心病合并2型糖尿病(OR=1.52~2.08,P=0.003~0.016)的易感性相关,还增加2型糖尿病患者冠心病的易感风险(OR=1.58~2.90, P=0.002~0.038)。通过对血压进行亚组分析,发现上述关联仅分布于非高血压亚组。进一步在非高血压亚组进行基因与环境的交互作用分析,发现rs7539542 CC基因型与三酰甘油存在交互作用并增加冠心病(P=0.041, OR=5.006)和冠心病合并2型糖尿病(OR=5.381, P=0.04)易感风险。rs7517286 和rs10581与冠心病或2型糖尿病的易感性无明显关联(P>0.05)。 结论 位于ADIPOR 3′UTR的rs7539542多态性位点与冠心病的易感性独立相关,尤其对于非高血压患者。

关 键 词:脂联素受体1  rs7539542  冠状动脉粥样硬化性心脏病  2型糖尿病  关联
收稿时间:2019-08-09

The relationship between ADIPOR1 rs7539542 and the susceptibility of coronary artery disease and type 2 diabetes in Han population
Li Xiang,Pu Lianmei,Ruan Yang,Li Hong,Jin Zening.The relationship between ADIPOR1 rs7539542 and the susceptibility of coronary artery disease and type 2 diabetes in Han population[J].Journal of Capital University of Medical Sciences,2020,41(6):935-942.
Authors:Li Xiang  Pu Lianmei  Ruan Yang  Li Hong  Jin Zening
Affiliation:1. Emergency & Critical Care Center, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China; 2. Department of Cardiology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China
Abstract:Objective To analyze whether single nucleotide polymorphisms (SNPs) in non-intronic regions contributed to coronary artery disease (CAD) or type 2 diabetes (T2D) risk. Methods Seven hundred thirty-seven subjects who had undergone coronary arteriography were included in this multi-disease comparative study, with gender-, age-, and body mass index-matched among groups. There were 193 controls, 142 patients with T2D, 203 with CAD, and 199 with T2D and CAD. Three SNPs (rs7539542 G>C and rs10581 C>T at 3′ untranslated regions (UTR), rs7517286 T>C at 5′UTR) were genotyped by direct Sanger sequencing. Results rs7539542 C allele was positively associated with both CAD (OR=1.67-2.34, P=2.87×10-4-0.002) and CAD with T2D (OR=1.52-2.08, P=0.003-0.016). Further analysis of case-case comparative results showed that rs7539542 C allele was associated with an increased risk of CAD in T2D patients (OR=1.58-2.90, P=0.002-0.038). Subgroup analyses of blood pressure level suggested that the above associations could only be found in the non-hypertension subgroup. For gene-environment interactions in the non-hypertension subgroup, rs7539542 CC genotype correlated with triglyceride level and contributed to a higher risk of CAD (OR=5.006, P=0.041) and CAD with T2D (OR=5.381, P=0.04). No significant association was found between rs7517286 or rs10581 variant and CAD or T2D(P>0.05). Conclusion Our results suggest that rs7539542 at 3′UTR of ADIPOR1 is associated with CAD independently, especially in non-hypertension subjects.
Keywords:adiponectin receptor 1  rs7539542  coronary artery disease  type 2 diabetes  association  
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