炎症因子基因多态性与冠状动脉粥样硬化性心脏病的相关性  

Association between polymorphisms of inflammatory factor genes and coronary heart disease

作　　者：金可可[1] 徐峰[1] 徐力辛[1] 张怀勤[1] 黄伟剑[1] 周武[2] 陶志华[2] 

机构地区：[1]浙江省温州医学院附属第一医院心血管内科,325027 [2]浙江省温州医学院附属第一医院检验科,325027

出　　处：《中华医学遗传学杂志》2012年第2期200-205,共6页Chinese Journal of Medical Genetics

基　　金：基金项目：浙江省温州市科技局项目（Y20090239）

摘　　要：目的研究中国南方汉族人群炎症因子基因多态性与冠状动脉粥样硬化性心脏病（简称冠心病）的相关性。方法采用基质辅助激光解吸电离飞行时间质谱技术对283例经冠状动脉造影确诊的冠心病患者和176名对照者的5个炎症因子的基因多态性进行检测，评估不同基因型和等位基因与冠心病患病风险的关联性。结果在受检测的5个炎症因子ESL腺癌易感基因1相关蛋白（BRCA1-associatedprotein，BRAP）、去整合素-金属蛋白酶8、中间α胰蛋白酶抑制因子H3、白细胞介素-15和环氧化酶-2]中，BRAP基因的270T／C及90A／G多态性在冠心病组与对照组间的差异有统计学意义，其等位基因和基因型的分布频率符合Hardy-Weinberg平衡（分别为：χ^2=0．878，P〉0．05；χ^2=0．776，P〉0．05）。冠心病组BRAP270C等位基因和90G等位基因频率高于对照组（分别为：29．51％vs．21．31％，P=0．006；30．04％vs．21．31％，P=0．004）。Logistic回归分析提示，BRAP270CC和90GG基因型携带者患冠心病的发病风险高于BRAP270TT和90AA基因型携带者（分别为：OR=4．51，95％CI：1．41～14．45，P=0．011；OR=5．09，95％CI：1．60～16．26，P=0．006），且该关联独立于性别、年龄、吸烟、高血压、糖尿病及血清总胆固醇、低密度脂蛋白胆固醇水平等风险因素之外。没有证据表明其余单核苷酸多态性与冠心病易感性相关。结论BRAP基因内含子270T／C和外显子90A／G多态性可能是中国南方汉族人群冠心病发病的风险因素之一。Objective To investigate the association between genetic polymorphisms of inflammatory factors and susceptibility to coronary heart disease（CHD） in southern Chinese Han population. Methods Using matrix-assisted laser desorption/ionization-time-of-flight mass spectrometry （MALDI-TOF-MS） method, the genotypes of five inflammatory factors （BRCA1 -associated protein, a disintegrin and metalloproteinase 8, inter-α-trypsin inhibitor H3, interleukin-15, cyclooxygenase-2） were anaylzed in 283 CHD patients diagnosed by angiography and 176 controls. Results In these inflammatory factors, the 270T/C and 90A/G polymorphisms of the BRAP gene showed a significant association with CHD. The allele and genotype frequencies of BRAP gene were consistent with those predicted by Hardy-Weinberg equilibrium （χ^2 = 0. 878, P〉0.05;χ^2 =0. 776, P〉0.05, respectively）. The frequencecies of 270C and 90G alleles in CHD patients was significantly higher than those of the control group （29.51% vs. 21.31%, P〈 0. 006;30. 04% vs. 21. 31%, P=0. 004, respectively）. Compared with 270TT and 90AA, 270CC and 90GG genotypes had a significantly increased C HD risk by Logistic regression analysis （OR= 4.51, 95 %CI： 1.41-14.45, P=0.011;OR=5.09, 95%CI..1. 60-16. 26, P=0.006, respectively）. This association was still signifcant after adjustment for the sex, age, smoke, hypertension, diabetes, plasma total cholesterol and low density lipoprotein levels. No evidence of association was found for other single nucleotide polymorphisms. Conclusion The 270T/C and 90A/G polymorphisms in the BRAP gene may contribute to an increased risk of CHD among southern Chinese Han population.

关 键 词：冠状动脉粥样硬化性心脏病 细胞因子 乳腺癌易感基因1相关蛋白 单核苷酸多态性 基质辅助激光解吸电离飞行时间质谱 

分 类 号：R541.4[医药卫生—心血管疾病]