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    Mutations in NOD2 are associated with fibrostenosing disease in patients with Crohn's disease
    4.
    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

    申请人： Maria T. Abreu ,  Kent D. Taylor ,  Jerome I. Rotter ,  Huiying Yang ,  Stephan R. Targan

    发明人： Maria T. Abreu ,  Kent D. Taylor ,  Jerome I. Rotter ,  Huiying Yang ,  Stephan R. Targan

    IPC分类号： C07H21/04 ,  C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q2600/112 ,  C12Q2600/156 ,  C12Q2600/172

    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。

    Genetic test to determine non-responsiveness to statin drug treatment
    6.
    发明授权
    Genetic test to determine non-responsiveness to statin drug treatment 失效
    确定对他汀类药物治疗无反应的遗传试验

    公开(公告)号：US06297014B1

    公开(公告)日：2001-10-02

    申请号：US09347114

    申请日：1999-07-02

    申请人： Kent D. Taylor ,  Maren T. Scheuner ,  Jerome I. Rotter ,  Huiying Yang

    发明人： Kent D. Taylor ,  Maren T. Scheuner ,  Jerome I. Rotter ,  Huiying Yang

    IPC分类号： C12Q168

    CPC分类号： C12Q1/6883 ,  C12Q2600/156

    摘要： In a method for detecting a genetic predisposition in a human for non-responsiveness to statin drug treatment for coronary artery disease, nucleic acids comprising nucleotide sequences of the human lipoprotein lipase (LPL) gene are amplified and analyzed. Homozygosity for a variant allele in a non-coding or untranslated region of the 3′ end of LPL, for example, LPL HindIII 2/2 or (TTTA)n 4/4 genotypes, is linked to non-responsiveness to treatment with statin drugs, including lovastatin, pravastatin, simvastatin, atorvastatin, fluvastatin, or cerivastatin. Oligonucleotide primer sequences, primer sets, and genetic testing kits allow the practitioner to practice the method and thus better individualize the treatment and improve the care of patients with coronary artery disease.

    摘要翻译： 在用于检测对于冠状动脉疾病的他汀类药物治疗的非反应性的人的遗传易感性的方法中，扩增并分析了包含人脂蛋白脂肪酶（LPL）基因的核苷酸序列的核酸。 在LPL 3'末端的非编码区或非翻译区，例如LPL HindIII 2/2或（TTTA）n 4/4基因型中的变体等位基因的纯合性与对他汀类药物治疗的无反应性有关 ，包括洛伐他汀，普伐他汀，辛伐他汀，阿托伐他汀，氟伐他汀或西立伐他汀。 寡核苷酸引物序列，引物组和遗传测试试剂盒使得从业者能够实施该方法，从而更好地个体化治疗并改善冠状动脉疾病患者的护理。

    Methods of identifying the genetic basis of a disease by a combinatorial genomics approach, biological pathway approach, and sequential approach
    7.
    发明授权
    Methods of identifying the genetic basis of a disease by a combinatorial genomics approach, biological pathway approach, and sequential approach 有权
    通过组合基因组学方法，生物学途径方法和顺序方法鉴定疾病的遗传基础的方法

    公开(公告)号：US09305137B1

    公开(公告)日：2016-04-05

    申请号：US12122490

    申请日：2008-05-16

    申请人： Stephan R. Targan ,  Jerome I. Rotter ,  Kent D. Taylor

    发明人： Stephan R. Targan ,  Jerome I. Rotter ,  Kent D. Taylor

    IPC分类号： G01N33/48 ,  G06F19/00

    CPC分类号： G06F19/34 ,  C12Q1/6804 ,  C12Q1/6883 ,  C12Q1/689 ,  C12Q2600/112 ,  C12Q2600/118 ,  C12Q2600/156 ,  C12Q2600/158 ,  Y02A90/26

    摘要： In one embodiment, the invention provides methods of identifying genes and genetic variants that, either alone or in combination, are important to the pathogenesis of a disease. In another embodiment, the disease is stratified by use of an immune response to disease-associated antigens. In another embodiment, the invention provides methods of identifying pathways that, either alone or in combination, are important to the pathogenesis of a disease. In another embodiment, the invention provides a method of diagnosing or predicting susceptibility to a disease in an individual by determining the presence or absence of genes and genetic variants that, either alone or in combination, are important to the pathogenesis of the disease.

    摘要翻译： 在一个实施方案中，本发明提供鉴定单独或组合地对疾病发病机制重要的基因和遗传变异体的方法。 在另一个实施方案中，通过使用对疾病相关抗原的免疫应答来分层疾病。 在另一个实施方案中，本发明提供鉴定单独或组合对疾病发病机制很重要的途径的方法。 在另一个实施方案中，本发明提供了通过确定单独或组合地对疾病的发病机制重要的基因和遗传变异体的存在或不存在来诊断或预测个体中疾病易感性的方法。