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目的研究中国人群蛋白酶体α6亚单位基因PSMA6单核苷酸多态性与冠心病的关系。方法从北京同仁医院和北京朝阳医院选取冠心病患者369例和匹配的对照组360例。并记录所有研究对象的病史、体格检查等临床资料及其它流行病学资料,采取聚合酶链式反应和限制性酶切片断长度多态性分析方法(PCR-RFLP)检测各组PSMA6基因rs1048990位点C/G的基因型并统计各组的基因型频率。结果冠心病组rs1048990 G等位基因型频率显著低于对照组(48.0%vs 57.8%,P=0.011,OR值=0.674)。将冠心病组进行疾病分层后发现,冠心病亚组与对照组之间的基因型频率分布差异也有统计学意义(42.4%vs 57.8%,P=0.001,OR值=0.669),而在心肌梗死亚组中未发现差异有统计学意义。结论PSMA6基因rs1048990位点C/G多态性与冠心病的发病密切相关,其中G等位基因可能是中国人冠心病的保护因素之一。
Objective To investigate the relationship between polymorphism of proteasome α6 subunit gene PSMA6 and coronary heart disease in Chinese population. Methods 369 coronary heart disease patients and 360 matched controls were selected from Beijing Tongren Hospital and Beijing Chaoyang Hospital. The clinical data and other epidemiological data of all the subjects were recorded and the PCR products were analyzed by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). The rs1048990 Point C / G genotype and statistical genotype frequency of each group. Results The frequency of rs1048990 G allele in CHD group was significantly lower than that in control group (48.0% vs 57.8%, P = 0.011, OR = 0.674). The stratification of coronary heart disease group found that there was also a significant difference in genotype frequencies between CHD subgroup and control group (42.4% vs 57.8%, P = 0.001, OR = 0.669) There was no significant difference in infarct subgroups. Conclusion The C / G polymorphism of rs1048990 locus of PSMA6 gene is closely related to the pathogenesis of coronary heart disease. The G allele may be one of the protective factors in Chinese coronary heart disease.