Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Nat Genet. 2012 Feb 27;44(3):235-6. doi: 10.1038/ng.2207.
A new study refines the association signals for rheumatoid arthritis susceptibility in the major histocompatibility complex (MHC) region to five amino-acid positions encoded in three HLA genes, all within peptide-binding grooves. By adapting statistical methods from genome-wide association studies (GWAS) and using imputation from a large reference panel, they demonstrate the potential for this approach to identify functional variants in associated regions.
一项新的研究将主要组织相容性复合体(MHC)区域中与类风湿性关节炎易感性相关的关联信号精确定位到三个 HLA 基因中的五个氨基酸位置,这些位置都位于肽结合槽内。通过从全基因组关联研究(GWAS)中采用统计方法并利用大型参考面板进行推断,他们证明了这种方法在关联区域中识别功能变体的潜力。