自噬基因IRGM及多个其他复制位点的序列变异会导致克罗恩病易感性。
Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.
作者信息
Parkes Miles, Barrett Jeffrey C, Prescott Natalie J, Tremelling Mark, Anderson Carl A, Fisher Sheila A, Roberts Roland G, Nimmo Elaine R, Cummings Fraser R, Soars Dianne, Drummond Hazel, Lees Charlie W, Khawaja Saud A, Bagnall Richard, Burke Denis A, Todhunter Catherine E, Ahmad Tariq, Onnie Clive M, McArdle Wendy, Strachan David, Bethel Graeme, Bryan Claire, Lewis Cathryn M, Deloukas Panos, Forbes Alastair, Sanderson Jeremy, Jewell Derek P, Satsangi Jack, Mansfield John C, Cardon Lon, Mathew Christopher G
机构信息
Inflammatory Bowel Disease Research Group, Addenbrooke's Hospital, University of Cambridge, Cambridge CB2 2QQ, UK.
出版信息
Nat Genet. 2007 Jul;39(7):830-2. doi: 10.1038/ng2061. Epub 2007 Jun 6.
Abstract
A genome-wide association scan in individuals with Crohn's disease by the Wellcome Trust Case Control Consortium detected strong association at four novel loci. We tested 37 SNPs from these and other loci for association in an independent case-control sample. We obtained replication for the autophagy-inducing IRGM gene on chromosome 5q33.1 (replication P = 6.6 x 10(-4), combined P = 2.1 x 10(-10)) and for nine other loci, including NKX2-3, PTPN2 and gene deserts on chromosomes 1q and 5p13.
摘要
威康信托病例对照研究联盟对克罗恩病患者进行的全基因组关联扫描在四个新位点检测到强关联。我们在一个独立的病例对照样本中测试了来自这些位点及其他位点的37个单核苷酸多态性（SNP）的关联性。我们在5号染色体q33.1区域的自噬诱导基因IRGM（复制P值 = 6.6 x 10^(-4)，合并P值 = 2.1 x 10^(-10)）以及包括NKX2 - 3、PTPN2和1号染色体与5号染色体p13区域的基因荒漠在内的其他九个位点获得了重复验证。
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