甲硫腺苷磷酸化酶基因单核苷酸多态性与汉族人群心肌梗死的关系

Association between methyithioadenosine phosphorylase gene single nucleotide polymorphisms and myocardial infarction in Chinese Han ethnicity

目的探讨甲硫腺苷磷酸化酶（MTAP）基因单核苷酸多态性（SNP）与中国汉族人群心肌梗死（MI）的关系。方法选取432例初发MI患者及430例同期住院的外科对照患者。选取MTAP基因9个标签SNP，采用PCR—SNPStream技术对所选标签SNP位点进行分型。并对分型结果进行统计学分析。结果在总体样本中未发现所选SNP位点与MI患病存在关联，经性别分层后，在男性组rs7027989位点的G等位基冈在MI组分布频率增高，差异有统计学意义（P=0．003）；在显性遗传模型中，GG基冈型较AG＋AA基因型的男性对象患MI的风险增加了26％，差异有统计学意义（P=0．005），经校正混杂因素后其统计学显著性仍然存在。结论MTAP基因同汉族人群MI患病相关。

Objective To investigate the association between methylthioadenosine phosphorylase （MTAP） gene single nucleotide polymorphisms （SNP） and myocardial infarction （MI） in the Chinese Hart ethnicity. Methods 432 patients suffered from myocardial infarction and 430 controls were involved for case and control groups, respectively. Nine tag SNPs in MTAP gene were selected and genotyped. Results We found no significant association of selected tag SNPs with MI in all of the samples. However, in stratified analysis, significant association was observed at rs7027989 in male subjects. The risk of MI increased by 26% （P=0.005） for male subjects of minor allele carriers in a dominant model. The increased risk of MI at rs7027989 remained significant after adjusting for confounding factors. Conclusion MTAP gene might be involved in the etiology of MI in Chinese Han ethnicity.