TM基因多态性与急性冠脉综合征的相关性研究

目的探讨血栓调节蛋白（TM）基因多态性与急性冠脉综合征（ACS）的关系。方法首先通过文献阅读和生物学信息分析,筛选出TM基因候选单核苷酸多态性（SNP）。然后收集兰州大学第一医院心血管内科对照组（168例）和ACS组（201例）,采用病例对照研究,基于sequenom飞行时间质谱法的基因测序技术,观察TM候选SNP位点基因型在对照组和ACS组的分布。结果筛选出4个SNP,包括：rs13306848G/A,rs1042579C/T,rs3176123A/C和rs1042580A/G。在对照组和ACS组,rs13306848 G/A的GG基因型分别为128例（76.2%）和169例（84.1%）,GA基因型分别为38例（22.6%）和31例（15.4%）,AA基因型分别为2例（1.2%）和1例（0.5%）;rs1042579 C/T的CC基因型分别为97例（57.7%）和131例（65.2%）,CT基因型分别为66例（39.3%）和,63例（31.3%）TT基因型分别为5例（3%）和7例（3.5%）;rs3176123A/C的AA基因型分别为95例（56.5%）和125例（62.2%）,AC基因型分别为66例（39.3%）和68例（33.8%）,CC基因型分别为7例（4.2%）和8例（4%）。两组间rs13306848G/A、rs1042579 C/T和rs3176123A/C位点分布差异均无统计学意义（P=0.057,P=0.143,P=0.222）,且对照组与ACS各亚组相比,此三个位点的分布差异亦无统计学意义（P〉0.05）。结论 TM rs13306848G/A、rs1042579 C/T和rs3176123A/C多态性与ACS及其亚组均不相关。

Association of TM Genetic Polymorphism and Acute Coronary Syndrome

Objective To investigate the association of thrombomodulin（TM） genetic polymorphism and acute coronary syndrome（ACS）. Methods The candidate single nucleotide polymorphisms（SNPs） were screened by literature reading and biological information analysis. 168 controls and 201 ACS individuals from department of cardiology in the first hospital of Lanzhou University were recruited in this study. This study was based on case-control study design. The gene sequencing assay of sequenom time of flight mass spectrometry was carried out to determine TM genotype distribution in control group and ACS group. Results 4 SNP were screened, including rs13306848 G/A, rs1042579 C/T, rs3176123A/C, rs1042580 A/G. In control group and ACS group, the frequencies of GG, GA, AA type of rs13306848 G/A [GG：76.2%（128/168） vs. 84.1%（169/201）, GA： 22.6%（38/168） vs. 15.4%（31/201）, AA： 1.2%（2/168） vs. 0.5%（1/201）], CC, CT, TT type of rs1042579 C/T [CC： 57.7%（97/168） vs. 65.2%（131/201）, CT： 39.3%（66/168） vs. 31.3%（63/201）, TT： 3%（5/168） vs. 3.5%（7/201）], and AA, AC, CC type of rs3176123A/C [AA： 56.5%（95/168） vs. 62.2%（125/201）, AC： 39.3%（66/168） vs. 33.8%（68/201）,CC： 4.2%（7/168） vs. 4%（8/201）] were similar between the two groups（P=0.057, P=0.143, P=0.222）, there were also no statistical difference between control group and the ACS subgroups Conclusion TM rs13306848 G/A, rs1042579 C/T and rs3176123A/C polymorphism are not associated with acute coronary syndrome and the ACS subgroups.