湖北汉族人群TRIB1基因多态性分布特征及其与冠心病的关联性分析

目的研究tribbles同源物1（果蝇）（TRIB1）基因内含子区和3′UTR区2个标签单核甘酸多态性（TagSNP）（内含子区：rs235110;3′UTR区：rs235108）与冠心病的关系及其在湖北省汉族人群中的分布特征。方法采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对湖北地区236名健康汉族人和139例冠心病患者的TRIB1基因单核苷酸多态性（SNP）进行分析。并用PCR产物纯化后测序验证酶切结果。同时检测研究对象的血浆三酰甘油（TG）和总胆固醇（TC）水平。结果TRIB1基因的2个TagSNPs的分布特征符合Hardy-Weinberg平衡定律（rs2235110：χ^2=0.481,P=0.488;rs2235108：χ^2=0.570,P=0.450）。TG水平在冠心病组rs2235110位点基因型亚组内,差异有统计学意义（P〈0.05）。上述多态性位点在冠心病患者和正常人群中的分布无差异。rs2235110具有中等多态信息量（PIC）（rs2235110位点PIC=0.368 7,H=0.487 5）,几乎达到其PIC的理论最大值。结论本研究人群的rs235108、rs235110各位点的基因型和等位基因频率可代表湖北省汉族人群的分布特征,与HapMap数据库中其他SNP构成单倍型联用可作为一个理想的遗传标记。但没有发现其与冠心病的相关性。

Distribution characteristics of TRIB1 gene polymorphism and association of TRIB1 gene polymorphism with coronary heart disease in Han population of Hubei province

Objective To investigate the relationship of coronary heart disease（CHD） and two tag single nucleotide polymorphisms（Tag SNP） intro region： rs235110;3′ untranslated region（3′ UTR）：rs235108] in tribbles congener 1（drosophila）（TRIB1） gene and the distributions of TRIB1 gene in Han population of Hubei province.Methods By polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） method,TRIB1 gene single nucleotide polymorphisms（SNP） in 236 healthy subjects and 139 patients with CHD were analyzed,and further verified by sequencing after purifying the PCR products.The levels of plasma triglyceride（TG） and total cholesterol（TC） were detected.Results The distributions of two Tag SNPs were in Hardy-Weinberg balance（rs2235110：χ^ 2=0.481,P=0.488;rs2235108：χ ^2=0.570,P=0.450）.There was significant difference for TG in the subtypes of rs2235110 in CHD group（P〈0.05）.There was no significant difference in the alleles and genotype distributions of two Tag SNPs between controls and patients.There was moderate polymorphism information content（PIC） in rs2235110（PIC=0.368 7,H=0.487 5）,almost to the maximum theory value of PIC.Conclusions The distributions of the genotypes and alleles for each Tag SNP in this study represent the variants of the TRIB 1 gene in Han population of Hubei province.Those two Tag SNPs combined with other Tag SNPs in HapMap can be used as an ideal genetic marker.However,the relation of Tag SNPs and CHD is not found.