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三磷酸腺苷结合盒转运子A1启动子区及7外显子基因突变与合并糖尿病的冠心病关联研究

Association between two common polymorphisms in ATP-binding cassette A1 gene and coronary heart disease complicated with diabetes in Chinese Him people
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摘要 目的首次研究汉族人群冠心病合并糖尿病与三磷酸腺苷结合盒转运子A1（ABCA1）基因启动子区-565C／T及7外显子R219K基因多态性关联分析。方法应用连接酶检测反应法对172例合并糖尿病冠心病患者及393例对照组测试-565C／T及R219K基因型。结果合并糖尿病冠心病患者-565C／T位点CC、CT及TT基因型频率分别为0．360（n=63），0．482（n=83），0．157（n=27），与对照相比，TT基因型及T等位基因频率分别为0．157vs0．163，0．398vs0．409（均P〉0．05）。R219K位点AA＋AG基因型合并糖尿病的冠心病组与对照组分别为0．65vs0．73，P=0．079。关联分析显示，AA基因型系冠心病保护性因素，[OR=0．428（95％C10．227—0．603），P=0．009]。结论ABCA1基因-565C／T位点T等位基因与合并糖尿病的冠心病无关联，R219K的A等位基因在合并糖尿病的冠心病组频率较低，提示A等位基因系冠心病保护性因子。 Objective The promoter-565C/T variant and the 7exon R219K variant are associated with risk of Coronary heart disease （CAD）, but the association also remains controversial. At present, there are few studies focusing on the associations between ATP-binding cassette A1 （ABCA1）, and CAD with Diabetes mellitus （DM） in Chinese population. Since decreased serum level of HDL-C is often observed in DM,it is natural to hypothesize that polymorphisms of the ABCA1 gene might be related to CAD complicated with DM. Objective To study the mutations and genetic characteristics of ABCA1 promoter -565C/T and 7Exon R219K in CAD with DM patients in Chinese Han people. Methods One hundred and seventy-three patients of CAD with DM and 389 controls were genotyped for - 565C/T, R219K used with LDR. Genetic association analysis was performed. Results The frequencies of the CC, CT, and TT genotypes in CAD with DM were 0.360（n =63）, 0.482 （n =83） and 0. 157 （n =27）, respectively. The Crequency of the TT genotype and T allele at the - 565C/T locus had no significant alterations between CAD with DM patients and Controls （0. 157 vs 0. 163; 0.398 vs 0.409,P〉0.05）. The frequency of the AA and GA genotype at the R219K locus was lower in CAD patients compared with diabetes （0.65 vs 0.73 ,P =0.079）. Logistic regression model were performed, revealed no interaction between 2 SNPs and traditional risk factors, but R219K had a protection effect, OR=0.428 （95%CI0.227-0.603）, P=0.009. Conclusions ABCA1 the T allele of-565 C/T SNP has no significant association with CAD with DM. R219K SNP predicts differences in CAD with diabetes. The AA genotype may protect against subclinical cardiovascular disease.
作者 祁莉萍 严晓伟 叶平 党爱民
机构地区 解放军总医院老年心血管二科 北京协和医院心内科 阜外心血管病医院心内科
出处 《中国医药》 2010年第4期295-297,共3页 China Medicine
关键词 冠状动脉粥样硬化性心脏病 三磷酸腺苷结合盒转运子A1 胆固醇逆向转运 单核苷酸多态性 Coronary heart disease ATP-binding cassette A1 Reverse cholesterol transport Single nucleotide polymorphisms
分类号 R541.4 [医药卫生—心血管疾病]
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参考文献13

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中国医药
2010年 第4期

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