IRF5 rs2004640-T allele, the new genetic factor for systemic lupus erythematosus, is not associated with rheumatoid arthritis
IRF5 rs2004640-T allele, the new genetic factor for systemic lupus erythematosus, is not associated with rheumatoid arthritis
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DOI：
10.1136/ard.2006.061390
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发表时间：
2007-06-01
影响因子：
27.4
通讯作者：
Cornelis, Francois
中科院分区：
文献类型：
--
作者：
Garnier, Sophie;Dieude, Philippe;Cornelis, Francois
背景资料：最近，干扰素调节因子5（IRF 5）基因内的一个新的遗传因子被证明是系统性红斑狼疮（SLE）通过连锁和关联：rs 2004640-T等位基因。IRF 5参与类风湿性关节炎（RA）细胞因子的产生，并且SLE已经与RA共享酪氨酸磷酸酶PTPN 22基因内的一个遗传因子。目的：为了检验SLE IRF 5遗传因子也可以与RA共享的假设。患者和方法：对100个法国白人三人组RA家系进行基因分型，并进行传递不平衡检验，传播和非传播等位基因频率比较及基因型相对危险度。97%的权力是可用于检测至少一个趋势，有利于一个因素类似的报告为SLE.Results：分析显示，没有连锁和关联全球和“自身免疫”RA子集，与弱的非显着的趋势对IRF 5 rs 20046470-T等位基因。由于家庭为基础的分析的鲁棒性，这种轻微的负面趋势提供了强有力的证据，甚至比报告为SLE.Conclusion弱的因素：我们的研究结果排除了IRF 5 rs 2004640-T等位基因作为一个主要的遗传因素RA在这个法国高加索人群。
Background: Recently, a new genetic factor within the interferon regulatory factor 5 (IRF5) gene was demonstrated for systemic lupus erythematosus (SLE) through linkage and association: the rs2004640-T allele. IRF5 is involved in the production of rheumatoid arthritis (RA) cytokines, and SLE already shares with RA one genetic factor within the tyrosine phosphatase PTPN22 gene.Aim: To test the hypothesis that the SLE IRF5 genetic factor could also be shared with RA.Patients and methods: 100 French Caucasian trio families with RA were genotyped and analysed with the transmission disequilibrium test, the frequency comparison of the transmitted and untransmitted alleles, and the genotype relative risk. 97% power was available to detect at least a trend in favour of a factor similar to that reported for SLE.Results: The analysis showed the absence of linkage and association globally and in "autoimmune'' RA subsets, with a weak non-significant trend against the IRF5 rs20046470-T allele. Given the robustness of familial-based analysis, this slight negative trend provided strong evidence against even a weaker factor than that reported for SLE.Conclusion: Our results exclude the IRF5 rs2004640-T allele as a major genetic factor for RA in this French Caucasian population.