趋化因子受体6基因与陕西汉中地区类风湿关节炎汉族人群相关性

目的探讨趋化因子受体6基因单核苷酸多态性位点与中国陕西汉中地区类风湿关节炎汉族人群的相关性。 方法采用病例-对照研究方法，收集768例RA患者和960例正常对照DNA样本；用聚合酶链反应（PCR）法扩增目的条带，使用单碱基延伸法（SnapShot）对rs1331301、rs1556413、rs3093024、rs1854853和rs3093023位点基因分型，分析与RA的相关性。 结果CCR6基因5个标签SNP位点均符合哈迪温伯格平衡（HWE），RA组和对照组基因型差异均无统计学意义（P > 0.05）。rs3093024位点A等位基因（OR = 1.22、P = 0.003），显性模式（OR = 1.33、P = 0.0048）RA组与对照组差异具有统计学意义。rs1854853位点A等位基因（OR = 1.20、P = 0.0067），显性模式（OR = 1.35、P = 0.0063），RA组与对照组差异具有统计学意义。rs3093023位点T等位基因（OR = 1.26、P = 0.0009），显性模式（OR = 1.38、P = 0.0015），隐性模式（OR = 1.33、P = 0.025），RA组与对照组差异有统计学意义。rs1331301和rs1556413两个SNP位点等位基因和显性、隐性模式，RA组与对照组差异均无统计学意义。 结论CCR6基因rs3093023、rs3093024和rs1854853三个单核苷酸多态性位点，可能是陕西汉中地区汉族人类风湿关节炎的易感基因位点。

Association of chemokine (C-C motif) receptor 6 gene polymorphisms with susceptibility to rheumatoid arthritis in Hanzhong Area of Shanxi Province

ObjectivesTo assess the association of chemokine (C-C motif ) receptor 6 (CCR6) gene polymorphisms with rheumatoid arthritis (RA) among ethnic Han Chinese in Hanzhong Area of Shanxi Province. MethodsThe data of 768 patients with RA and 960 healthy controls were analyzed by case-control association method. All individuals were collected in Hanzhong Area of Shanxi Province of Han Chinese descent. Five (rs1331301, rs1556413, rs3093024, rs1854853 and rs3093023) single nucleotide polymorphisms (SNP) in CCR6 gene region were genotyped by the Snapshot method. ResultsThere were a significant association of the rs3093024 A] Allele (OR = 1.22, P = 0.003) and dominant model (OR = 1.33, P = 0.004) with RA susceptibility with Hanzhong of ShanXi Han Chinese population. The rs1854853 A] Allele (OR = 1.20, P = 0.007) and Dominant model (OR = 1.35, P = 0.006) frequency distribution were significantly different between RA group and normal control group. Equally important, rs3093023 T] Allele (OR = 1.26, P = 0.009), dominant model (OR = 1.38, P = 0.002) and recessive model (OR = 1.33, P = 0.025) frequency distribution were significantly different between RA group and normal control group. The rs1331301 and rs1556413 allele and genotyped polymorphisms were not significantly associated with RA susceptibility. ConclusionsCCR6 gene of rs3093024, rs1854853 and rs3093023 are significantly associated with rheumatoid arthritis of Han Chinese population in Hanzhong Area of Shanxi Province.