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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 investigate the association between single nucleotide polymorphisms (SNPs) in chromosome 9p21 and 1p13 regions of Chinese population and acute myocardial infarction (AMI) and the frequency of SNPs in northeastern China, north China and southeast China Differences between regions of the population. Methods A case-control study was conducted. A total of 1 148 patients with AMI were recruited from 1999 to early 2003 as the case group. A total of 1 185 non-cardiovascular patients or normal controls were selected as control group and matched by age and sex. A total of 20 SNPs in the 6th region of 9p21, 1p13, 1p32, 1q41, 10q11 and 19p13 were studied. SNP typing was performed using Illumina Golden Gate technology and the Bead-Studio software package. SAS / genetics, SAS / STAT and Haploview software Analyze and graph the results. Results There were two SNPs in 9p21 region and 1p13 region associated with the risk of AMI in Chinese population (multiple logistic regression, P <0.0001). SNPrs10757274 was the most associated with acute myocardial infarction (P = 0.006). The homozygous GG of 4 SNPs (rs10757274, rs2383206, rs10757278 and rs1333049) in 9p21 increased the 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). However, this study did not find 1p32, 1q41, 10q11, 19p13 9 SNPs sites and acute myocardial infarction significant correlation. In the normal control group or acute myocardial infarction group, the G allele frequency of SNP rs646776 in northeastern and southern China was higher than that in the northern part of China (P <0.05). Conclusion SNP rs10757274 is a susceptible locus for acute myocardial infarction in Chinese population.