公开(公告)号：US20140018448A1

公开(公告)日：2014-01-16

申请号：US14007400

申请日：2012-03-26

申请人： Rebecca Gonsky ,  Richard Deem ,  Stephan R. Targan

发明人： Rebecca Gonsky ,  Richard Deem ,  Stephan R. Targan

IPC分类号： C12Q1/68

CPC分类号： C12Q1/6883 ,  C12Q2600/154 ,  C12Q2600/156 ,  C12Q2600/158

摘要： The invention relates to method of diagnosing susceptibility to inflammatory bowel disease (IBD) in an individual by obtaining a sample from the individual, assaying the sample to determine the presence or absence of one or more risk genetic variants and/or an increase in IFNG DNA methylation. In one embodiment, the present invention provides a method of diagnosing susceptibility to inflammatory bowel disease (IBD) in an individual by obtaining a sample from the individual, assaying the sample to determine the presence or absence of one or more risk genetic variants and/or an increase in IFNG DNA methylation relative to a normal subject, and diagnosing susceptibility to inflammatory bowel disease based on the presence of one or more risk genetic variants and/or an increase in IFNG DNA methylation relative to a normal subject. In another embodiment, the IBD is ulcerative colitis.

摘要翻译： 本发明涉及通过从个体获得样品来诊断个体对炎症性肠病（IBD）的易感性的方法，测定样品以确定一种或多种风险遗传变异体的存在或不存在和/或IFNG DNA的增加 甲基化。 在一个实施方案中，本发明提供了通过从个体获得样品来诊断个体中对炎症性肠病（IBD）易感性的方法，测定样品以确定是否存在一种或多种风险遗传变体和/或 相对于正常受试者，IFNG DNA甲基化的增加，以及基于一种或多种风险遗传变异体的存在和/或IFNG DNA甲基化相对于正常受试者的增加诊断对炎症性肠病的易感性。 在另一个实施方案中，IBD是溃疡性结肠炎。