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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,rs1130864,3689C>G,rs17860479,rs1205和rs3093068),其中3689C>G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。
OBJECTIVE: To sequence the C-reactive protein (CRP) gene in Chinese Han population and explore the relationship between CRP gene polymorphism and serum CRP level. Methods: In the natural population of Han nationality in Beijing, ten deciles were stratified by CRP serum level, 30 individuals were randomly selected from the lowest decile (low level group) and the highest decile (high level group), and analyzed by whole genome Correlation between CRP gene polymorphism and serum concentration. Seven single nucleotide polymorphisms (rs3091244, rs1417938, rs1130864, 3689C> G, rs17860479, rs1205 and rs3093068) were found by whole genome sequencing analysis, of which 3689C> G was not reported in previous studies. The frequency of rs3091244T allele in CRP high level group was higher than that in CRP low level group (P = 0.017). The T allele in dominant inheritance mode was associated with the increase of CRP level (OR = 1.13, 95% CI: 1.27). 3. Gene combined analysis showed that in the rs1205T allele carriers, rs3091244T individuals serum CRP levels were 21 times rs3091244GG individuals (P = 0.013). Conclusion: rs3091244 is associated with serum CRP level in Han nationality population. Rs1205 is effective in correcting the relationship between rs3091244 and CRP level.