C-反应蛋白全基因测序及基因变异与血清水平的关联

目的:对我国汉族人群C-反应蛋白(C-reactive protein,CRP)基因进行测序并探讨CRP基因多态性与血清CRP水平的关系。方法:在北京市汉族自然人群中,按CRP血清水平进行十分位分层,分别从最低十分位(低水平组)和最高十分位(高水平组)随机抽取30人进行全基因测序,并分析CRP基因多态性与血清浓度的关联。结果:1.全基因测序分析共发现7个单核苷酸多态性(rs3091244,rs1417938,rs1130864,3689CG,rs17860479,rs1205和rs3093068),其中3689CG在既往研究中未见报道。2.CRP高水平组中rs3091244T等位基因频率高于CRP低水平组(P=0.017);显性遗传模式下T等位基因与CRP水平升高有关(OR=1.13,95%CI:1.00～1.27)。3.基因联合分析显示在rs1205T等位基因携带者中,rs3091244T个体的血清CRP水平是rs3091244GG个体的21倍(P=0.013)。结论:rs3091244与汉族自然人群中血清CRP水平有关,rs1205对rs3091244与CRP水平的关系有效应修正作用。

Gene sequencing of C-reactive protein and the association between its polymorphisms and serum concentration

Objective：To identify the polymorphisms of C-reactive protein（CRP） gene in Chinese Han population through gene sequencing,and to explore the association between polymorphisms and serum CRP level.Methods：Individuals with high CRP level（n = 30） and low CRP level（n = 30） were randomly selected from participants with the highest and lowest decile level of high-sensitivity CRP,respectively,in a community-based survey of cardiovascular risk factors in Beijing.Results：（1） Seven single nucleotide polymorphism（SNP）s of CRP gene were found（rs3091244,rs1417938,rs1130864,3689C G,rs17860479,rs1205 and rs3093068）,among which 3689 C G was a newly identified polymorphism.（2）The frequency of rs3091244T allele was higher in participants with the top decile level of CRP than in those with the bottom level（P = 0.017）;rs3091244T was associated with higher CRP level（OR = 1.13,95% CI：1.00-1.27） in the dominant mode.（3） Among rs1205T allele carriers,individuals carrying rs3091244T allele had 21 times higher CRP levels than rs3091244GG carriers（P = 0.013）.Conclusion：rs3091244 was associated with serum CRP level in Han Chinese people,and rs1205 had modified effect on the relationship between rs3091244 and CRP level.