Genetic test to determine non-responsiveness to statin drug treatment
    1.
    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

    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 using a major histocompatibility complex class III haplotype to diagnose Crohn's disease
    4.
    发明授权
    Methods of using a major histocompatibility complex class III haplotype to diagnose Crohn's disease 失效
    使用主要组织相容性复合体III类单体型诊断克罗恩病的方法

    公开(公告)号:US07419782B2

    公开(公告)日:2008-09-02

    申请号:US10075425

    申请日:2002-02-12

    摘要: The present invention provides a method of diagnosing or predicting susceptibility to an autoimmune disease in an individual by determining the presence or absence in the individual of a 2-2-4 haplotype at the Notch4, HSP70-HOM and D6S273 loci, where the presence of the haplotype diagnoses or predicts susceptibility to the autoimmune disease. The methods of the invention can be particularly useful for diagnosing or predicting susceptibility to Crohn's disease, rheumatoid arthritis or type I diabetes mellitus. In a preferred embodiment, a method of the invention is used to diagnose or predict susceptibility to Crohn's disease in an individual of Ashkenazi Jewish ethnicity.

    摘要翻译: 本发明提供了一种通过在Notch4,HSP70-HOM和D6S273位点确定2-2-4单体型个体存在或不存在来诊断或预测个体中自身免疫性疾病易感性的方法,其中存在 单体型诊断或预测对自身免疫性疾病的易感性。 本发明的方法对于诊断或预测对克罗恩病,类风湿性关节炎或I型糖尿病的易感性特别有用。 在优选的实施方案中,本发明的方法用于诊断或预测阿什肯纳齐犹太人种群对克罗恩病的易感性。

    Mutations in NOD2 are associated with fibrostenosing disease in patients with Crohn's disease
    6.
    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 assessing Crohn's disease patient phenotype by I2 serologic response
    8.
    发明授权
    Methods of assessing Crohn's disease patient phenotype by I2 serologic response 有权
    通过I2血清学反应评估克罗恩病患者表型的方法

    公开(公告)号:US07662569B2

    公开(公告)日:2010-02-16

    申请号:US10413501

    申请日:2003-04-11

    摘要: The invention provides a method of diagnosing or predicting susceptibility to a clinical subtype of Crohn's disease in a subject having Crohn's disease by determining the presence or absence of IgA anti-I2 antibodies in the subject, where the presence of the IgA anti-I2 antibodies indicates that the subject has a clinical subtype of Crohn's disease. In one embodiment, a method of the invention is practiced by further determining the presence or absence in the subject of a NOD2 variant, anti-Saccharomyces cerevisiae antibodies (ASCA), IgA anti-OmpC antibodies, or perinuclear anti-neutrophil cytoplasmic antibodies (pANCA). The methods of the invention can be used to diagnose or predict susceptibility to a clinical subtype of Crohn's disease, for example, a fibrostenotic subtype, a subtype characterized by the need for small bowel surgery, or a subtype characterized by the absence of features of ulcerative colitis.

    摘要翻译: 本发明提供一种诊断或预测克罗恩病临床亚型易感性的方法,其通过测定受试者中IgA抗-I2抗体的存在或不存在,其中IgA抗-I2抗体的存在表明 该受试者具有克罗恩病的临床亚型。 在一个实施方案中,通过进一步确定受试者中NOD2变体,抗酿酒酵母抗体(ASCA),IgA抗OmpC抗体或核周抗中性粒细胞胞质抗体(pANCA)的存在或不存在来实施本发明的方法 )。 本发明的方法可以用于诊断或预测对克罗恩病的临床亚型的易感性,例如纤维狭窄亚型,特征在于需要小肠手术的亚型或特征在于不存在溃疡特征的亚型 结肠炎。

    Methods of assessing Crohn's disease patient phenotype by I2 serologic response
    10.
    发明授权
    Methods of assessing Crohn's disease patient phenotype by I2 serologic response 有权
    通过I2血清学反应评估克罗恩病患者表型的方法

    公开(公告)号:US08163501B2

    公开(公告)日:2012-04-24

    申请号:US12645394

    申请日:2009-12-22

    摘要: The invention provides a method of diagnosing or predicting susceptibility to a clinical subtype of Crohn's disease in a subject having Crohn's disease by determining the presence or absence of IgA anti-I2 antibodies in the subject, where the presence of the IgA anti-I2 antibodies indicates that the subject has a clinical subtype of Crohn's disease. In one embodiment, a method of the invention is practiced by further determining the presence or absence in the subject of a NOD2 variant, anti-Saccharomyces cerevisiae antibodies (ASCA), IgA anti-OmpC antibodies, or perinuclear anti-neutrophil cytoplasmic antibodies (pANCA). The methods of the invention can be used to diagnose or predict susceptibility to a clinical subtype of Crohn's disease, for example, a fibrostenotic subtype, a subtype characterized by the need for small bowel surgery, or a subtype characterized by the absence of features of ulcerative colitis.

    摘要翻译: 本发明提供一种诊断或预测克罗恩病临床亚型易感性的方法,其通过测定受试者中IgA抗-I2抗体的存在或不存在,其中IgA抗-I2抗体的存在表明 该受试者具有克罗恩病的临床亚型。 在一个实施方案中,通过进一步确定受试者中NOD2变体,抗酿酒酵母抗体(ASCA),IgA抗OmpC抗体或核周抗中性粒细胞胞质抗体(pANCA)的存在或不存在来实施本发明的方法 )。 本发明的方法可以用于诊断或预测对克罗恩病的临床亚型的易感性,例如纤维狭窄亚型,特征在于需要小肠手术的亚型或特征在于不存在溃疡特征的亚型 结肠炎。