公开(公告)号：US20100136540A1

公开(公告)日：2010-06-03

申请号：US12457556

申请日：2009-06-15

申请人： Pavel Hamet ,  Johanne Tremblay ,  Ondrej Seda ,  Stephen Macmahon ,  John Chalmers

发明人： Pavel Hamet ,  Johanne Tremblay ,  Ondrej Seda ,  Stephen Macmahon ,  John Chalmers

IPC分类号： C12Q1/68

CPC分类号： C12Q1/6883 ,  C12Q2600/106 ,  C12Q2600/156 ,  C12Q2600/172

摘要： The invention provides with methods for characterizing and selecting, within a population of subjects with type-2 diabetes, subjects that are suited for clinical trials based on the identification of one or more genetic features, which are single nucleotide polymorphisms (SNPs), short tandem repeats (STRs), and/or other genomic markers. The invention further involves characterizing these subjects based on the probability of developing complications related to type-2 diabetes, such as, myocardial infarction, stroke and albuminuria. Also described are combinations and kits for carrying out the above-described methods.

摘要翻译： 本发明提供了在基于识别一个或多个遗传特征的单体核苷酸多态性（SNP），短串联 重复（STR）和/或其他基因组标记。 本发明还涉及基于与2型糖尿病相关的并发症的可能性，例如心肌梗塞，中风和白蛋白尿来表征这些受试者。 还描述了用于实施上述方法的组合和试剂盒。

公开(公告)号：US20140023635A1

公开(公告)日：2014-01-23

申请号：US13995976

申请日：2011-12-21

申请人： Pavel Hamet ,  Johanne Tremblay ,  Ondrej Seda ,  Stephen Macmahon ,  John Chalmers

发明人： Pavel Hamet ,  Johanne Tremblay ,  Ondrej Seda ,  Stephen Macmahon ,  John Chalmers

IPC分类号： C12Q1/68

CPC分类号： C12Q1/6883 ,  A61K31/00 ,  C12Q2600/156

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) identification of genetic features such as single nucleotide polymorphisms (SNPs) for the establishment of a patient profile that can be used for prediction of complications associated with T2D. Signature profiles comprising a combination of SNPs which have greater predictive value for prognosticating particular types of complications, such as, stroke, myocardial infarction and kidney complications associated with T2D are further described. Compositions and kits 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 type 2 diabetes type will benefit from treatments that collectively aim to reduce the risk of developing such complications.

摘要翻译： 本发明提供了在受2型糖尿病（T2D）影响的受试者中预测发生与该疾病相关的并发症的可能性的手段。 本发明涉及（1）鉴定用于建立可用于预测与T2D相关并发症的患者概况的单核苷酸多态性（SNP）等遗传特征。 进一步描述包括具有预测特定类型并发症（例如中风，心肌梗死和与T2D相关的肾并发症）的更大预测价值的SNP的组合的签名曲线。 可用于一组互补表型标志物的组合物和试剂盒，以评估受T2D影响的个体发生与该疾病相关的并发症的风险，并评估受2型糖尿病类型影响的个体可能受益于 共同旨在降低发生此类并发症的风险。

公开(公告)号：US20110158979A1

公开(公告)日：2011-06-30

申请号：US12997621

申请日：2009-06-15

申请人： Pavel Hamet ,  Johanne Tremblay ,  Ondrej Seda ,  Stephen Macmahon ,  John Chalmers

发明人： Pavel Hamet ,  Johanne Tremblay ,  Ondrej Seda ,  Stephen Macmahon ,  John Chalmers

IPC分类号： A61K39/395 ,  C12Q1/68 ,  C40B30/00 ,  C40B40/06 ,  A61K31/7105 ,  A61P3/10

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. The invention also provides with methods for characterizing and selecting, within a population of subjects with type-2 diabetes, subjects that are suited for clinical trials based on the identification of one or more 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2型糖尿病（T2D）影响的受试者中预测发生与该疾病相关的并发症的可能性的手段。 本发明涉及1）使用遗传特征（SNP，STR或其他基因组标记）以及其他染色体特征和表型信息来建立专门为预测T2D并发症而开发的患者概况2）使用一组允许 根据他们的血统区分个人。 本发明还提供了在基于识别一种或多种遗传特征的情况下，在具有2型糖尿病的受试者群体中表征和选择适合于临床试验的受试者的方法。 还描述了用于实施上述方法的组合和试剂盒。

公开(公告)号：US20100099091A1

公开(公告)日：2010-04-22

申请号：US12457555

申请日：2009-06-15

申请人： Pavel Hamet ,  Johanne Tremblay ,  Ondrej Seda ,  Stephen Macmahon ,  John Chalmers

发明人： Pavel Hamet ,  Johanne Tremblay ,  Ondrej Seda ,  Stephen Macmahon ,  John Chalmers

IPC分类号： C12Q1/68

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.

摘要翻译： 本发明提供了在受2型糖尿病（T2D）影响的受试者中预测发生与该疾病相关的并发症的可能性的手段。 本发明涉及1）使用遗传特征（SNP，STR或其他基因组标记）以及其他染色体特征和表型信息来建立专门为预测T2D并发症而开发的患者概况2）使用一组允许 根据他们的血统区分个人。 提供了选择与T2D并发症相关联的一组优选的基因组标记，其可与一组互补表型标志物一起使用，以评估受T2D影响的个体的风险，以发展与该疾病相关的并发症，并评估其可能性 受T2D型影响的个体将受益于减少发生此类并发症风险的治疗。

公开(公告)号：US20120065075A1

公开(公告)日：2012-03-15

申请号：US13176623

申请日：2011-07-05

申请人： Pavel Hamet ,  Johanne Tremblay ,  Jacques De Champlain ,  François de Champlain ,  Josée Beaudet ,  Bernard de Champlain ,  Réginald Nadeau ,  Pierre Larochelle ,  John Chalmers ,  Stephen Macmahon

发明人： Pavel Hamet ,  Johanne Tremblay ,  Jacques De Champlain ,  François de Champlain ,  Josée Beaudet ,  Bernard de Champlain ,  Réginald Nadeau ,  Pierre Larochelle ,  John Chalmers ,  Stephen Macmahon

IPC分类号： C40B20/00 ,  C12Q1/68 ,  G01N33/53

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; l) 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).

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; l）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。