SLC22A3-LPAL2-LPA基因单核苷酸多态性与冠心病的关系研究  

Association of single nucleotide polymorphism rs2048327-rs3127599-rs7767084-rs10755578 on chromosome 6q26-q27 with coronary artery disease in Chinese Han population

作　　者：丁艳辉[1] 柳青[1] 雷寒[2] 

机构地区：[1]重庆医科大学附属第一医院临床研究中心,重庆400016 [2]重庆医科大学附属第一医院心血管内科,重庆400016

出　　处：《第三军医大学学报》2010年第22期2394-2399,共6页Journal of Third Military Medical University

基　　金：重庆市卫生局医学科研计划项目(2010-2-118)~~

摘　　要：目的探讨SLC22A3-LPAL2-LPA基因多态性与冠状动脉粥样硬化性心脏病(coronary artery disease,CAD)的相关性。方法用聚合酶链反应-单链构象多态性(PCR-SSCP)方法和核苷酸测序技术检测165例CAD患者和166例对照的SLC22A3-LPAL2-LPA基因多态性。结果 CAD组和对照组中rs2048327位点均检测出AA、AG基因型,GG基因型未检出,G等位基因频率组间有统计学差异(19.7%vs11.1%,P=0.002);rs3127599位点均检测出AG、GG基因型,AA基因型未检出,A等位基因频率组间有统计学差异(7.6%vs13.2%,P=0.017);rs7767084位点均检测出CC、CT、TT3种基因型,C等位基因频率组间差异有统计学意义(16.4%vs30.7%,P=0.000);rs10755578位点均检测出CG、GG基因型,CC基因型未检出,C等位基因频率组间有统计学差异(18.5%vs12.7%,P=0.038);使用Logistic回归分析排除年龄、吸烟、高血压等因素的影响后,除rs10755578位点外(P=0.077),其余各位点等位基因频率组间差异依然有统计学意义(P<0.05);单倍型AGC、AGT、GGC、GGT组间分布有统计学差异(P<0.05);分别比较各位点不同基因型的血脂水平,并未发现有统计学差异的指标(P>0.05)。结论 SLC22A3-LPAL2-LPA基因rs2048327、rs3127599、rs7767084多态性位点可能与CAD发病相关,携带AGT、GGC、GGT单倍型的人群罹患CAD的风险性可能较正常人高,各位点基因多态性可能与血脂水平无关。Objective To investigate the association of single nucleotide polymorphism （SNP） on chromosome 6q26-q27 with coronary artery disease （CAD）. Methods A case-control association study of 165 identified unrelated CAD patients who admitted in our hospital from September 2008 to April 2010 and 166 matched normal controls from a Chinese Han population was performed. PCR-SSCP and nucleotide sequencing were used to genotype the SNP rs2048327-rs3127599-rs7767084-rs10755578 in SLC22A3-LPAL2-LPA gene. Results There were genotype AA and AG in CAD and control groups, but not GG in rs2048327, and the frequency of allele G was different between 2 groups （19.7% vs 11.1%, P=0.002）. In rs3127599, genotype AG and GG was found in both groups, but no AA, and the frequency of allele A was different between 2 groups （7.6% vs 13.2%, P=0.017）. Genotype CC, CT and TT in rs7767084 was found in both groups, and the frequency of allele C was different between 2 groups （16.4% vs 30.7%, P=0.000）. Genotype CG and GG were seen in rs10755578 of both groups, but no CC was found, and the frequency of allele C was different between 2 groups （18.5% vs 12.7%, P=0.038）. The frequencies of minor allele of the other SNPs were also significantly different after removing the confounding factors with logistical analysis except rs10755578. There was also statistical significance in the haplotype AGT, AGC, GGC and GGT between 2 groups （P0.05）, but not in the levels of TC, TG, HDL and LDL among different genotypes （P0.05）. Conclusion Our findings suggest that the genetic polymorphisms in rs2048327-rs3127599-rs7767084 may be associated with the development of CAD in Chinese Han population. The incidence rate of CAD in the crowd with haplotype AGT, GGC and GGT may be higher and there may be no association between genotype and the levels of TC, TG, HDL and LDL.

关 键 词：冠状动脉粥样硬化性心脏病 单核苷酸多态性 单链构象多态性 单倍型 

分 类 号：R394-33[医药卫生—医学遗传学] R394.3[医药卫生—基础医学]