贵州省汉族人群类风湿关节炎患者TRAF1/C5基因多态性研究  

Association of the TRAF1/C5 gene polymorphism with rheumatoid arthritis in Han population of Guizhou Province

作　　者：梁爱凤[1] 费樱[2] 

机构地区：[1]复旦大学附属中山医院青浦分院检验科,上海201700 [2]贵阳医学院附属医院微生物免疫科,贵州贵阳550004

出　　处：《国际检验医学杂志》2015年第3期310-312,共3页International Journal of Laboratory Medicine

基　　金：贵阳市科技计划项目[(2010)筑科农合同第1-社-17号]

摘　　要：目的探讨肿瘤坏死因子受体相关因子1（TRAF1）/补体5（C5）单核苷酸多态性与类风湿关节炎（RA）的相关性。方法提取300例RA患者（RA组）和300例健康者DNA（对照组）,实时荧光定量PCR方法检测TRAF1/C5基因rs3761847和rs10818488的单核苷酸多态性。结果 TRAF1/C5存在基因多态性,但RA组与对照组比较基因多态性位点的单倍体基因型和等位基因频率的差异均无统计学意义（P〉0.05）。连锁不平衡分析发现rs3761847与rs10818488之间存在强连锁不平衡。rs3761847位点A等位基因与类风湿因子（RF）阴性（P=0.001,OR=0.57,95%CI：0.41~0.79）,抗CCP抗体（抗-CCP）阴性（P=0.001,OR=0.51,95%CI：0.35~0.76）及抗Sa抗体阴性均相关（P=0.02,OR=0.72,95%CI：0.55~0.94）;rs10818488位点G等位基因仅与RF阳性相关（P=0.01,OR=1.40,95%CI：1.09~1.81）。结论 TRAF1/C5基因多态性可能与贵州汉族人群RA的遗传易感性无关。Objective To explore the association between the tumor necrosis factor receptor-associated factor 1（TRAF1）/complement component 5（C5）single nucleotide polymorphism and rheumatoid arthritis patients.Methods Two groups of people were included in the study：300rheumatoid arthritis（RA）patients（RA group）and 300 healthy individuals（control group）.Real-time PCR was used to test the single nucleotide polymorphisms rs3761847 and rs10818488of TRAF1/C5.Results There was no significant difference（P〉0.05）of TRAF1/C5rs3761847 and rs10818488polymorphism between the two groups.The linkage disequilibrium analysis results showed that there was strong linkage disequilibrium between rs3761847 and rs10818488.For the RF,anti-CCP and anti-Sa negative RA patients,the difference in the frequency of A allele of rs3761847 between the RA patients and matched controls was statistically significant（P=0.001,OR=0.57,95%CI：0.41-0.79;P=0.001,OR=0.51,95%CI：0.35-0.76;P=0.02,OR=0.72,95%CI：0.55-0.94）.Significant difference for the frequency of G allele of rs10818488 between RF positive RA patients and control groups was observed（P=0.01,OR=1.40,95%CI：1.09-1.81）.Conclusion TRAF1/C5 gene polymorphism may not associate with susceptibility of RA patients in Han population in Guizhou.

关 键 词：肿瘤坏死因子受体相关因子 补体 单核苷酸多态性 类风湿关节炎 

分 类 号：R593.22[医药卫生—内科学]