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首页> 外文期刊>Nature Genetics >REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.
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REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

机译：REL编码NF-κB转录因子家族的成员，是类风湿性关节炎的一个新近定义的危险源。

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摘要

We conducted a genome-wide association study of rheumatoid arthritis in 2,418 cases and 4,504 controls from North America and identified an association at the REL locus, encoding c-Rel, on chromosome 2p13 (rs13031237, P = 6.01 x 10(-10)). Replication in independent case-control datasets comprising 2,604 cases and 2,882 controls confirmed this association, yielding an allelic OR = 1.25 (P = 3.08 x 10(-14)) for marker rs13031237 and an allelic OR = 1.21 (P = 2.60 x 10(-11)) for marker rs13017599 in the combined dataset. The combined dataset also provides definitive support for associations at both CTLA4 (rs231735; OR = 0.85; P = 6.25 x 10(-9)) and BLK (rs2736340; OR = 1.19; P = 5.69 x 10(-9)). c-Rel is an NF-kappaB family member with distinct functional properties in hematopoietic cells, and its association with rheumatoid arthritis suggests disease pathways that involve other recently identified rheumatoid arthritis susceptibility genes including CD40, TRAF1, TNFAIP3 and PRKCQ.
机译：我们对来自北美的2,418例病例和4,504名对照进行了类风湿关节炎的全基因组关联研究，并在2p13染色体上的编码c-Rel的REL基因座处发现了关联（rs13031237，P = 6.01 x 10（-10）） 。在包含2,604个病例和2,882个对照的独立病例对照数据集中的复制证实了这种关联，从而产生了标记rs13031237的等位基因OR = 1.25（P = 3.08 x 10（-14））和等位基因OR = 1.21（P = 2.60 x 10（ -11））用于组合数据集中的标记rs13017599。组合数据集还为CTLA4（rs231735; OR = 0.85; P = 6.25 x 10（-9））和BLK（rs2736340; OR = 1.19; P = 5.69 x 10（-9））的关联提供了明确的支持。 c-Rel是在造血细胞中具有独特功能特性的NF-kappaB家族成员，其与类风湿关节炎的关联提示了涉及其他最近确定的类风湿关节炎易感性基因的疾病途径，包括CD40，TRAF1，TNFAIP3和PRKCQ。

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