兰州汉族人群载脂蛋白M基因多态性与风湿性疾病易感性的相关性研究

[Correlation between the genetic polymorphisms of apolipoprotein M with the susceptibility to rheumatic diseases of Chinese Han populastion in Lanzhou].

作者信息

Li Meiyong, Guo Xinling, Li Qiannan, You Chongge

机构信息

Center for Laboratory Medicine, Lanzhou University Second Hospital, Lanzhou 730030, China.

Department of Laboratory Medicine, Tianjin Medical University General Hospital, Tianjin 300052, China.

出版信息

Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2016 Aug;32(8):1105-8.

PMID:27412944

Abstract

Objective To investigate the relationship between the genetic polymorphisms of apolipoprotein M (ApoM) and the susceptibility to rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) and ankylosing spondylitis (AS) among Chinese Han population in Lanzhou. Methods Primers for the two single nucleotide polymorphism (SNP) sites (rs805296 and rs805297) in ApoM gene were designed and their genotyping methods of polymerase chain reaction-high resolution melting (PCR-HRM) assay were established. Case-control studies were performed among the 599 cases of RA, 194 cases of SLE, 179 cases of AS and 273 matched healthy controls to analyze the correlations between the two SNPs and the susceptibility to rheumatic diseases. Results The genotype frequencies of rs805296 were AA 87.0%, AG 12.7%, GG 0.3% in RA cases, AA 84.5%, AG 15.0%, GG 0.5% in SLE cases, AA 91.6%, AG 7.3%, GG 1.1% in AS cases, AA 85.0%, AG 15.0%, GG 0% in healthy controls. The ones of rs805297 were GG 38.2%, GT 51.8%, TT 10.0% in RA cases, GG 44.3%, GT 45.4%, TT 10.3% in SLE cases, GG 37.4%, GT 47.5%, TT 15.1% in AS cases, GG 40.7%, GT 46.1%, TT 13.2% in healthy controls. Statistical analyses showed that only the genotype distribution of rs805296 was significantly different between the AS cases and the healthy controls. Under the dominant model, the G allele carriers of rs805296 (AG heterozygote and GG homozygote) were found to significantly decrease the risk for AS development. Conclusion The established PCR-HRM genotyping assays in the present study can successfully achieve the molecular diagnosis of the two SNPs sites (rs805296 and rs805297) from clinical samples, and the study found a significant association between the SNP of rs805296 and the susceptibility to AS among Chinese Han population in Lanzhou.

摘要

目的探讨兰州地区汉族人群载脂蛋白M（ApoM）基因多态性与类风湿关节炎（RA）、系统性红斑狼疮（SLE）及强直性脊柱炎（AS）易感性的关系。方法设计ApoM基因两个单核苷酸多态性（SNP）位点（rs805296和rs805297）的引物，建立聚合酶链反应-高分辨率熔解曲线分析（PCR-HRM）法的基因分型方法。对599例RA患者、194例SLE患者、179例AS患者及273例匹配的健康对照进行病例对照研究，分析两个SNP与风湿性疾病易感性的相关性。结果 rs805296基因型频率在RA患者中为AA 87.0%、AG 12.7%、GG 0.3%；在SLE患者中为AA 84.5%、AG 15.0%、GG 0.5%；在AS患者中为AA 91.6%、AG 7.3%、GG 1.1%；在健康对照中为AA 85.0%、AG 15.0%、GG 0%。rs805297基因型频率在RA患者中为GG 38.2%、GT 51.8%、TT 10.0%；在SLE患者中为GG 44.3%、GT 45.4%、TT 10.3%；在AS患者中为GG 37.4%、GT 47.5%、TT 15.1%；在健康对照中为GG 40.7%、GT 46.1%、TT 13.2%。统计学分析显示，仅rs805296的基因型分布在AS患者与健康对照之间存在显著差异。在显性模型下，发现rs805296的G等位基因携带者（AG杂合子和GG纯合子）可显著降低AS发病风险。结论本研究建立的PCR-HRM基因分型方法可成功实现对临床样本中两个SNP位点（rs805296和rs805297）的分子诊断，且研究发现rs805296的SNP与兰州地区汉族人群AS易感性之间存在显著关联。