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1. 发明申请

WO2012000119A1 A METHOD OF DETERMINING A PREDISPOSITION TO ATRIAL FIBRILLATION IN A SUBJECT 审中-公开
标题翻译：一种确定在一个主题中进行ATRIAL FIBRILLATION预测的方法
公开(公告)号：WO2012000119A1
公开(公告)日：2012-01-05
申请号：PCT/CA2011050409
申请日：2011-07-04
申请人： PROGNOMIX INC , HAMET PAVEL , TREMBLAY JOHANNE , DE CHAMPLAIN JACQUES , NADEAU REGINALD , LAROCHELLE PIERRE , CHALMERS JOHN , MACMAHON STEPHEN
发明人： HAMET PAVEL , TREMBLAY JOHANNE , DE CHAMPLAIN JACQUES , NADEAU REGINALD , LAROCHELLE PIERRE , CHALMERS JOHN , MACMAHON STEPHEN
IPC分类号： C12Q1/68 , C40B30/00 , G01N33/68
CPC分类号： C12Q1/6883 , C12Q2600/106 , C12Q2600/156 , C12Q2600/172 , G01N33/6887 , G01N2333/58 , G01N2800/326
摘要： The present invention concerns a method of determining a predisposition to atrial fibrillation (AF) in a subject comprising: determining the presence of at least one copy of a risk allele from at least one polymorphic marker in a sample from the subject, wherein the presence of at least one copy of the risk allele is indicative of a predisposition to AF, and wherein said at least one polymorphic marker is :a) rs4674485; b) rs1466560; c) rs1880039; d) rs3849387; e) rs7039; f) rs2952860; g) rs9312515; h) rs1897527; i) rs2299277; j) rs2418828; k) rs2385833; I) rs6717960; m) rs10510266; or n) a substitute polymorphic marker in linkage disequilibrium with any one of the polymorphic markers of a) to m). Also described are kits for determining a predisposition to atrial fibrillation (AF) and uses therefore.
摘要翻译：本发明涉及确定受试者心房颤动（AF）倾向性的方法，其包括：确定来自受试者的样品中至少一个多态型标志物的风险等位基因的至少一个拷贝的存在，其中存在风险等位基因的至少一个拷贝指示AF的倾向，并且其中所述至少一个多态性标记是：a）rs4674485; b）rs1466560; c）rs1880039; d）rs3849387 e）rs7039; f）rs2952860; g）rs9312515; h）rs1897527; i）rs2299277; j）rs2418828; k）rs2385833; I）rs6717960; m）rs10510266; 或n）与a）至m）中的任一个多态性标记连锁不平衡的替代多态性标记。还描述了用于确定心房颤动（AF）倾向的试剂盒并因此使用。

2. 发明申请

WO2012038827A3 GENES LINKING SEVERAL COMPLICATIONS OF TYPE-2 DIABETES (T2D) 审中-公开
标题翻译：连接2型糖尿病（T2D）的几项综合指标
公开(公告)号：WO2012038827A3
公开(公告)日：2012-07-19
申请号：PCT/IB2011002486
申请日：2011-09-20
申请人： PROGNOMIX INC , HAMET PAVEL , TREMBLAY JOHANNE , SEDA ONDREJ , MACMAHON STEPHEN , CHALMERS JOHN
发明人： HAMET PAVEL , TREMBLAY JOHANNE , SEDA ONDREJ , MACMAHON STEPHEN , CHALMERS JOHN
IPC分类号： C12N15/11 , C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/118 , C12Q2600/156 , C12Q2600/172
摘要： The invention provides means and methods to predict, in subjects affected by type II diabetes (T2D), the probability of developing complications which include, but are not limited to, micro/ macrovascular disorder, hypertension, neuropathy, atrial fibrillation, nephropathy and other major adverse cardiovascular events (MACE) that are associated with the disease, by detecting one or more genetic features. The genetic features that are useful in prediction include, but are not limited to, genes, single nucleotide polymorphisms (SNPs) and other genomic markers. The invention further involves characterizing individuals based on the probability of developing complications related to T2D, such as, micro/ macrovascular disorder, hypertension, neuropathy, atrial fibrillation, nephropathy or MACE, based on the identification of one or more aforementioned genetic features. Also described are combinations and kits for carrying out the above-described methods.
摘要翻译：本发明提供了在受II型糖尿病（T2D）影响的受试者中预测发生并发症的可能性的手段和方法，其包括但不限于微/大血管病症，高血压，神经病，心房颤动，肾病等主要通过检测一种或多种遗传特征与疾病相关的不良心血管事件（MACE）。在预测中有用的遗传特征包括但不限于基因，单核苷酸多态性（SNP）和其他基因组标记。本发明还涉及基于识别一个或多个上述遗传特征，基于与T2D相关的并发症的发生概率，例如微/大血管障碍，高血压，神经病变，心房颤动，肾病或MACE，来表征个体。还描述了用于实施上述方法的组合和试剂盒。

3. 发明申请

WO2009150550A9 GENETIC COMPONENT OF COMPLICATIONS IN TYPE 2 DIABETES 审中-公开
标题翻译： 2型糖尿病合并基因组成
公开(公告)号：WO2009150550A9
公开(公告)日：2010-03-25
申请号：PCT/IB2009006638
申请日：2009-06-15
申请人： PROGNOMIX INC , HAMET PAVEL , TREMBLAY JOHANNE , SEDA ONDREJ , MACMAHON STEPHEN , CHALMERS JOHN
发明人： HAMET PAVEL , TREMBLAY JOHANNE , SEDA ONDREJ , MACMAHON STEPHEN , CHALMERS JOHN
IPC分类号： C12N15/09 , A61P3/10 , C12Q1/68 , G01N33/50
CPC分类号： C12Q1/6883 , C12Q2600/106 , C12Q2600/156 , C12Q2600/172
摘要： The invention provides with means to predict, in subjects affected by type 2 diabetes (T2D), the probability of developing complications related to the disease. The invention involves 1) use of genetic features (SNPs, STRs, or other genomic markers) together with other chromosomal features and phenotypic information to establish a patient profile specifically developed for prediction of complications of T2D 2) use of a set of SNPs allowing to discriminate between individuals according to their descent. A preferred set of genomic markers selected for their association with complications of T2D is provided that can be used with a set of complementary phenotypic markers to evaluate the risk for an individual affected by T2D to develop complications related to the disease and to evaluate the likelihood that an individual affected by T2D type will benefit from treatments reducing the risk of developing such complications.

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