位于10号染色体p15、12号染色体q13和22号染色体q13的类风湿性关节炎易感基因座。
Rheumatoid arthritis susceptibility loci at chromosomes 10p15, 12q13 and 22q13.
作者信息
Barton Anne, Thomson Wendy, Ke Xiayi, Eyre Steve, Hinks Anne, Bowes John, Plant Darren, Gibbons Laura J, Wilson Anthony G, Bax Deborah E, Morgan Ann W, Emery Paul, Steer Sophia, Hocking Lynne, Reid David M, Wordsworth Paul, Harrison Pille, Worthington Jane
机构信息
Arthritis Research Campaign, Epidemiology Unit, The University of Manchester, Manchester, UK.
出版信息
Nat Genet. 2008 Oct;40(10):1156-9. doi: 10.1038/ng.218. Epub 2008 Sep 14.
Abstract
The WTCCC study identified 49 SNPs putatively associated with rheumatoid arthritis at P = 1 x 10(-4) - 1 x 10(-5) (tier 3). Here we show that three of these SNPs, mapping to chromosome 10p15 (rs4750316), 12q13 (rs1678542) and 22q13 (rs3218253), are also associated (trend P = 4 x 10(-5), P = 4 x 10(-4) and P = 4 x 10(-4), respectively) in a validation study of 4,106 individuals with rheumatoid arthritis and an expanded reference group of 11,238 subjects, confirming them as true susceptibility loci in individuals of European ancestry.
摘要
WTCCC研究在P = 1×10⁻⁴ - 1×10⁻⁵（第3层）水平上鉴定出49个推测与类风湿性关节炎相关的单核苷酸多态性（SNP）。在此我们表明，在一项针对4106例类风湿性关节炎患者和11238名受试者的扩大参考组的验证研究中，其中三个SNP，分别定位于10号染色体p15区域（rs4750316）、12号染色体q13区域（rs1678542）和22号染色体q13区域（rs3218253），也具有相关性（趋势P值分别为4×10⁻⁵、4×10⁻⁴和4×10⁻⁴），证实它们是欧洲血统个体中的真正易感基因座。
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