Mutations in NOD2 are associated with fibrostenosing disease in patients with Crohn's disease
    21.
    发明授权
    Mutations in NOD2 are associated with fibrostenosing disease in patients with Crohn's disease 有权
    NOD2的突变与克罗恩病患者的纤维化疾病有关

    公开(公告)号:US07790370B2

    公开(公告)日:2010-09-07

    申请号:US10526256

    申请日:2003-07-30

    IPC分类号: C07H21/04 C12Q1/68

    摘要: 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.

    摘要翻译: 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。

    METHODS OF USING GENES AND GENETIC VARIANTS TO PREDICT OR DIAGNOSE INFLAMMATORY BOWEL DISEASE
    23.
    发明申请
    METHODS OF USING GENES AND GENETIC VARIANTS TO PREDICT OR DIAGNOSE INFLAMMATORY BOWEL DISEASE 审中-公开
    使用基因和遗传变异体预测或诊断炎症性皮肤疾病的方法

    公开(公告)号:US20100021917A1

    公开(公告)日:2010-01-28

    申请号:US12527376

    申请日:2008-02-14

    IPC分类号: C12Q1/68

    CPC分类号: C12Q1/6883 C12Q2600/172

    摘要: This invention provides methods of diagnosing or predicting susceptibility to inflammatory bowel disease by determining the presence or absence of genetic variants. In one embodiment, a the invention is practiced by determining the presence or absence of NOD2 variants in an individual where the presence of NOD2 variants are indicative of susceptibility to Crohn's Disease in the individual. In another embodiment, the invention further determines the presence or absence of TLR8 variants where the presence of TLR8 variants are inflammatory bowel disease in female individuals. In another embodiment, the invention further determines the presence or absence of TR2 variant P631H where the presence of TLR2 variant P631H is indicative of susceptibility to Crohn's Disease.

    摘要翻译: 本发明提供通过确定遗传变异体的存在或不存在来诊断或预测对炎症性肠病易感性的方法。 在一个实施方案中,本发明通过确定个体中NOD2变体的存在或不存在来实施,其中NOD2变体的存在指示个体对克罗恩病的易感性。 在另一个实施方案中,本发明进一步确定TLR8变体的存在或不存在,其中TLR8变体的存在是女性个体中的炎症性肠病。 在另一个实施方案中,本发明还确定TR2变体P631H的存在或不存在,其中TLR2变体P631H的存在表示对克罗恩病的易感性。