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    • 2. 发明授权
    • Mutations in NOD2 are associated with fibrostenosing disease in patients with Crohn's disease
    • NOD2的突变与克罗恩病患者的纤维化疾病有关
    • US07790370B2
    • 2010-09-07
    • US10526256
    • 2003-07-30
    • Maria T. AbreuKent D. TaylorJerome I. RotterHuiying YangStephan R. Targan
    • Maria T. AbreuKent D. TaylorJerome I. RotterHuiying YangStephan R. Targan
    • C07H21/04C12Q1/68
    • C12Q1/6883C12Q2600/112C12Q2600/156C12Q2600/172
    • The present invention provides a method of diagnosing or predicting susceptibility to a clinical subtype of Crohn's disease characterized by fibrostenosing disease by determining the presence or absence in an individual of a fibrostenosis-predisposing allele linked to a NOD2/CARD15 locus, where the presence of the fibrostenosis-predisposing allele is diagnostic of or predictive of susceptibility to the clinical subtype of Crohn's disease characterized by fibrostenosing disease. In a method of the invention, the clinical subtype of Crohn's disease can be, for example, characterized by fibrostenosing disease independent of small bowel involvement. The invention also provides a method of optimizing therapy in an individual by determining the presence or absence in the individual of a fibrostenosis-predisposing allele linked to a NOD2/CARD15 locus, diagnosing individuals in which the fibrostenosis-predisposing allele is present as having a fibrostenosing subtype of Crohn's disease, and treating the individual having a fibrostenosing subtype of Crohn's disease based on the diagnosis.
    • 本发明提供一种诊断或预测以特征在于纤维化疾病的克罗恩病的临床亚型的易感性的方法,其通过确定个体中存在或不存在与NOD2 / CARD15基因座连锁的纤维化狭窄等位基因,其中存在 纤维狭窄 - 易感性等位基因是以特征为纤维化疾病的克罗恩病的临床亚型的易感性的诊断或预测。 在本发明的方法中,克罗恩病的临床亚型可以是例如独立于小肠受累的纤维化疾病的特征。 本发明还提供了一种通过确定个体中存在或不存在与NOD2 / CARD15基因座连锁的纤维化狭窄等位基因来诊断个体的方法,其中存在纤维狭窄 - 倾向性等位基因的个体具有纤维化 克罗恩病的亚型,并基于诊断治疗患有克罗恩病的纤维化亚型的个体。