蛋白激酶Cβ基因rs16972959多态性与类风湿关节炎的相关性研究  

Association study of protein kinase C β gene polymorphism rs16972959 with rheumatoid arthritis

作　　者：王敏[1,2] 陈双双[1,2] 汪秀[1,2] 张天平[1,2] 冷瑞雪[1,2] 潘海峰[1,2] 叶冬青[1,2] 

机构地区：[1]安徽医科大学公共卫生学院流行病与卫生统计学系,安徽合肥230032 [2]重大自身免疫性疾病安徽省重点实验室,安徽合肥230032

出　　处：《中华疾病控制杂志》2017年第5期478-481,共4页Chinese Journal of Disease Control & Prevention

基　　金：安徽省自然科学基金(1408085QH179)

摘　　要：目的类风湿关节炎(rheumatoid arthritis,RA)是一种受环境和遗传因素共同影响其易感性的自身免疫性疾病。研究显示蛋白激酶Cβ(protein kinase Cβ,PKCβ)基因与若干自身免疫病相关。本文分析在汉族人群中PKCβ的rs16972959是否与类风湿性关节炎具有相关性。方法本研究采用病例对照研究并收集508例RA患者和503例健康对照。采用TaqMan探针基因分型技术检测病例组和对照组PKCβ基因位点rs16972959的基因型。应用SPSS 16.0进行统计分析。结果 RA病例组和对照组PKCβ基因(rs16972959)等位基因频率分布差异无统计学意义(OR=0.928,95%CI:0.761~1.131,P=0.460),基因型分布差异无统计学意义(GG vs AA:OR=1.054,95%CI:0.632~1.759,P=0.839;GA vs AA:OR=0.963,95%CI:0.570~1.627,P=0.888)。研究发现rs16972959等位基因频率与抗环瓜氨酸肽抗体(anti-cyclic citrullinated peptide,ACCP)有关(P=0.041)。此外,rs16972959基因型与类风湿因子(rheumatoid factor,RF)有关(P=0.042)。但是,本研究没有发现rs16972959与抗角蛋白抗体有关。结论以上研究表明PKCβ基因位点rs16972959与汉族人群RA遗传易感性无关。Rs16972959与部分实验室指标存在关联。Objective Rheumatoid arthritis （RA） is an autoimmune disease that interaction of genetic and environmental factor contribute to susceptibility.Protein kinase C β （PKCβ） gene has been reported to be associated with several autoimmune diseases.The purpose of this study was to evaluate whether a single-nucleotide polymorphism （SNP）,rs16972959 of PKCβ,show significant evidence for association with RA in a Chinese population.Methods We conducted a case-control study and a total of 508 RA patients and 503 healthy controls were finally recruited.The genotyping of PKCβ rs16972959 polymorphism was detected by TaqMan allele discrimination assay.Data were analyzed by SPSS 16.0 software.Results The prevalence of PKCβ （rs16972959） polymorphism was not differentially distributed between RA patients and controls in either allele frequency,with odds ratio （95% CI） of 0.928 （0.761-1.131） and P value of 0.460,or genotype frequency （GG vs AA：P =0.839,OR =1.054,95% CI：0.632-1.759;GAvs AA：P =0.888,OR =0.963,95% CI：0.570-1.627）.The allele frequency of rs16972959 was significantly associated with anti-cyclic citrullinated peptide （ACCP） positive phenotype as compare to ACCP negative patients （P =0.041）.Moreover,we found that the genotype distribution of rs16972959 was significantly associated with rheumatoid factor （RF） positive patients （P =0.042）.However,we failed to detect associations of rs16972959 polymorphism with anti-keratin antibody （AKA）.Conclusions These findings suggest that the PKCβ rs16972959 is not associated with RA susceptibility in a Chinese Han population.We found association of some laboratory features with rs16972959.

关 键 词：多态性 单核苷酸 关节炎 类风湿 类风湿因子 

分 类 号：R593.22[医药卫生—内科学]