染色体9p21和1p13上单核苷酸多态性位点与中国人群急性心肌梗死的关联:中国急性心梗研究  

Association of single-nucleotide polymorphisms on chromosome 1p13 and 9p21 with acute myocardial infarction in a Chinese population:the AMI study in China

作　　者：郭晋[1,2] 李卫[1,2] 刘欣[3] 王兴宇[3] 王杨[1,2] 刘力生[1,2,3] 

机构地区：[1]北京协和医学院 [2]中国医学科学院阜外心血管病医院防治中心生物统计部,北京100037 [3]北京高血压联盟研究所,北京100039

出　　处：《第二军医大学学报》2011年第8期822-829,共8页Academic Journal of Second Military Medical University

基　　金：加拿大人群健康研究所资助~~

摘　　要：目的探讨中国人群染色体9p21和1p13区域单核苷酸多态性(SNP)位点与急性心肌梗死(AMI)的关联强度,以及风险SNP位点的等位基因频率在中国东北、华北、东南3个区域人群之间的差异。方法采用病例对照研究,选择1999～2003年初发急性心肌梗死的患者1 148例作为病例组,选择非心血管病患者或正常人1 185例作为对照组,按年龄与性别进行匹配。共研究9p21、1p13、1p32、1q41、10q11、19p13第6个区域20个SNPs位点,利用Illumina Golden Gate技术和Bead-Studio软件包进行SNP分型,利用SAS/genetics、SAS/STAT和Haploview软件对结果进行分析和图形绘制。结果 9p21区域4个SNPs和1p13区域2个SNPs与中国人群急性心肌梗死发病风险存在关联性(多重Logistic回归,P<0.000 1),其中SNPrs10757274与急性心肌梗死关联性最强(P=0.006)。9p21区域4个SNPs(rs10757274、rs2383206、rs10757278和rs1333049)的GG纯合形态增加了急性心肌梗死的发病风险(OR=1.40,95%CI:1.10～1.79;OR=1.33,95%CI:1.04～1.69;OR=1.35,95%CI:1.07～1.72;OR=1.34,95%CI:1.06～1.71)。但是本研究并未发现1p32、1q41、10q11、19p13区域9个SNPs位点与急性心肌梗死存在明显关联。在正常对照组或急性心肌梗死组,中国东北和南方地区人群SNP rs646776的G等位基因频率高于北方地区,差异有统计学意义(P<0.05)。结论 SNP rs10757274是中国人群急性心肌梗死发生的易感位点。Objective To determine whether the single nucleotide polymorphism（SNPs） on chromosome 9p21 and 1p13 were associated with acute myocardial infarction（AMI） in a Chinese population,and to compare the allelic frequencies of risk SNP between populations living in northeast China,north China,and southeast China.Methods We conducted a case-control study.Cases were those developed initial AMI（n=1 148） between 1999 and 2003;controls（n=1 185） were randomly selected age-and sex-matched non-cardiovascular disease patients or normal controls.Twenty SNPs sites in 6 domains（9p21,1p13,1p32,1q41,10q11 and 19p13） were studied using the Illumina GoldenGate technology and the BeadStudio software package.SAS/genetics,SAS/STAT and Haploview were used for result analysis and for completing the drawing.Results Four SNPs in 9p21 and 2 SNPs in 1p13 were associated with AMI risk in Chinese population（Global P value for multiple logistic regression,0.000 1）,with rs10757274 showing the strongest association with AMI（P=0.006）.GG carriers of four SNPs（rs10757274,rs2383206,rs10757278 and rs1333049） in 9p21 were associated with higher risk of AMI（OR=1.40,95% CI： 1.10-1.79;OR=1.33,95% CI： 1.04-1.69;OR=1.35,95% CI： 1.07-1.72;OR=1.34,95% CI： 1.06-1.71）.The present study failed to find a significant association of 9 SNPs in 1p32,1q41,10q11,and 19p13 regions with AMI.In the control or cases groups,G allele frequencies of rs646776 in populations living in north and northeast China were significantly higher than those living in south China（P0.05）.Conclusion SNP rs10757274 is the susceptible locus of AMI in Chinese population.

关 键 词：心肌梗死 单核苷酸多态性 单体型 中国 

分 类 号：R542.22[医药卫生—心血管疾病]