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Evans DM Spencer CC Pointon JJ Su Z Harvey D Kochan G Oppermann U Opperman U Dilthey A Pirinen M Stone MA Appleton L Moutsianas L Moutsianis L Leslie S Wordsworth T Kenna TJ Karaderi T Thomas GP Ward MM Weisman MH Farrar C Bradbury LA Danoy P Inman RD Maksymowych W Gladman D Rahman P;Spondyloarthritis Research Consortium of Canada 《Nature genetics》2011,43(8):761-767
Ankylosing spondylitis is a common form of inflammatory arthritis predominantly affecting the spine and pelvis that occurs in approximately 5 out of 1,000 adults of European descent. Here we report the identification of three variants in the RUNX3, LTBR-TNFRSF1A and IL12B regions convincingly associated with ankylosing spondylitis (P < 5 × 10(-8) in the combined discovery and replication datasets) and a further four loci at PTGER4, TBKBP1, ANTXR2 and CARD9 that show strong association across all our datasets (P < 5 × 10(-6) overall, with support in each of the three datasets studied). We also show that polymorphisms of ERAP1, which encodes an endoplasmic reticulum aminopeptidase involved in peptide trimming before HLA class I presentation, only affect ankylosing spondylitis risk in HLA-B27-positive individuals. These findings provide strong evidence that HLA-B27 operates in ankylosing spondylitis through a mechanism involving aberrant processing of antigenic peptides. 相似文献
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