白介素受体相关激酶-1基因多态性与类风湿关节炎的相关性  

The relationship between the single nucleotide polymorphism of interleukin-1 receptor-associated kinase(IRAK1) and rheumatoid arthritis

作　　者：高登文[1] 钱龙[1] 李向培[1] 厉小梅[1] 汪国生[1] 陈杰[1] 秦明明[1] 

机构地区：[1]安徽医科大学附属省立医院风湿免疫科,合肥230001

出　　处：《免疫学杂志》2012年第2期133-137,共5页Immunological Journal

摘　　要：目的探讨白介素受体相关激酶-1(IRAK1)rs3027898和rs1059703多态性性与类风湿关节炎(RA)易感性及临床参数的关系。方法收集RA患者123例和体检的220名健康对照者外周血标本,采用聚合酶链反应-连接酶检测反应(PCR-LDR)方法检测IRAK1 rs3027898和rs1059703基因多态性,收集并计算RA患者临床参数:发病年龄、性别、RF抗体、抗CCP抗体、RA疾病活动(DAS28≥3.2)、骨破坏和用药情况。结果 RA组IRAK1 rs3027898和rs1059703的基因型频率和等位基因频率与健康对照组比较,差异无统计学意义(P>0.05)。RA患者IRAK1 rs3027898和rs1059703基因型与发病年龄、性别、RF抗体和抗CCP抗体阳性率、骨破坏阳性率均无相关性(P>0.05)。RA患者IRAK1 rs3027898基因型与RA疾病活动无相关性(P>0.05),RA患者IRAK1 rs1059703基因型与RA疾病活动存在相关性(P<0.05),携带CT+TT基因型RA患者疾病活动的风险是携带CC基因型RA患者4.243倍(P=0.023,OR=4.243,95%CI为1.223～14.715)。结论我国汉族人群中,IRAK1 rs3027898和rs1059703多态性与RA的易感性无关,但IRAK1 rs1059703多态性可能是RA患者疾病活动的一个遗传危险因素。In this paper,we aim to investigate the relationship between the two interleukin（IL） 1 receptor associated kinase（IRAK1） polymorphisms and the susceptibility to and clinical characteristics of rheumatoid arthritis（RA）.Blood samples of 123 RA patients and 220 normal controls were collected.Polymerase chain reaction–ligation detection reaction（PCR-LDR） was used to detect the IRAK1 rs3027898 and rs1059703 single nucleotide polymorphisms of all sbjects.Clinical characteristics including sex,age at disease onset,rheumatoid factor（RF）,anti-cyclic citrullinated peptide autoantibody（anti-CCP）,RA activity（DAS28≥3.2）,bone erosion and drug usage were taken into account for analysis.The polymorphisms of the IRAK1 rs3027898 and rs1059703 were not correlated with susceptibility to RA（P 〉 0.05）;IRAK1 rs3027898 and rs1059703 genotypes were not associated with sex,age,status of RF and anti-CCP,and bone erosion among RA patients（P 〉 0.05）;no significant association was observed between IRAK1 rs3027898 genotypes and RA activity（P 〉 0.05）.However,the IRAK1 rs1059703 genotypes were associated with RA activity（P 〈 0.05）.The patients with IRAK1 rs1059703 CT and TT genotypes had a 4.243-fold higher probability of disease activity as compared to the patients with IRAK1 rs1059703 CC genotype（P = 0.023,OR = 4.243,95%CI=1.223-14.715）.In conclusion,the polymorphisms of the IRAK1 rs3027898 and rs1059703 are not associated with RA in Chinese Han population,but the polymorphism of the IRAK1 rs1059703 could be a genetic risk factor for RA activity.

关 键 词：类风湿关节炎 白介素受体相关激酶-1 多态性 

分 类 号：R593.22[医药卫生—内科学]