公开(公告)号：US20090260092A1

公开(公告)日：2009-10-15

申请号：US12487608

申请日：2009-06-18

申请人： Dietrich A. STEPHAN ,  Eric M. Reiman ,  Jennifer Webster ,  Christopher B. Heward ,  Pamela Heward ,  Andreas Papassotiropoulos

发明人： Dietrich A. STEPHAN ,  Eric M. Reiman ,  Jennifer Webster ,  Christopher B. Heward ,  Pamela Heward ,  Andreas Papassotiropoulos

IPC分类号： A01K67/027 ,  C12Q1/68 ,  G01N33/53 ,  C40B30/04 ,  C07H21/04

CPC分类号： C12Q1/6883 ,  A61K31/7088 ,  A61K31/711 ,  A61K31/713 ,  C12N15/113 ,  C12N2310/14 ,  C12Q2600/106 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/172

摘要： The present disclosure relates to genetic markers and methods of diagnosing and screening for late-onset Alzheimer's disease (LOAD). As such, the disclosure encompasses a whole-genome association analysis of single nucleotide polymorphisms (SNPs) of which a number are located within the GRB2-associated binding protein 2 (GAB2) gene as well as other markers associated with other genes. The disclosure identifies two novel haplotypes within the GAB2 gene, i.e., a LOAD risk-enhancing and a LOAD risk-decreasing haplotype. These haplotypes modify LOAD risk differentially in combination with APOE alleles. Further encompassed are therapeutic methods and agents of decreasing the deterioration of cells associated with LOAD.

摘要翻译： 本公开涉及用于诊断和筛选迟发性阿尔茨海默氏病（LOAD）的遗传标记和方法。 因此，本公开内容包括其中数量位于GRB2相关结合蛋白2（GAB2）基因内的单核苷酸多态性（SNP）以及与其他基因相关的其他标志物的全基因组关联分析。 该公开内容鉴定了GAB2基因内的两种新型单体型，即LOAD风险增强型和LOAD风险降低型单元型。 这些单元型与APOE等位基因组合差异地修饰LOAD风险。 进一步包括降低与LOAD相关的细胞的恶化的治疗方法和试剂。

公开(公告)号：US20090249498A1

公开(公告)日：2009-10-01

申请号：US12148728

申请日：2008-04-21

申请人： Dietrich A. Stephan ,  Eric M. Reiman ,  Jennifer Webster ,  Christopher B. Heward ,  Pamela Heward ,  Andreas Papassotiropoulos

发明人： Dietrich A. Stephan ,  Eric M. Reiman ,  Jennifer Webster ,  Christopher B. Heward ,  Pamela Heward ,  Andreas Papassotiropoulos

IPC分类号： C12Q1/68 ,  C07H21/04 ,  A01K67/027 ,  G01N33/00

CPC分类号： C12Q1/6883 ,  A61K31/7088 ,  A61K31/711 ,  A61K31/713 ,  C12N15/113 ,  C12N2310/14 ,  C12Q2600/106 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/172

摘要： The present disclosure relates to genetic markers and methods of diagnosing and screening for late-onset Alzheimer's disease (LOAD). As such, the disclosure encompasses a whole-genome association analysis of single nucleotide polymorphisms (SNPs) of which a number are located within the GRB2-associated binding protein 2 (GAB2) gene as well as other markers associated with other genes. The disclosure identifies two novel haplotypes within the GAB2 gene, i.e., a LOAD risk-enhancing and a LOAD risk-decreasing haplotype. These haplotypes modify LOAD risk differentially in combination with APOE alleles. Further encompassed are therapeutic methods and agents of decreasing the deterioration of cells associated with LOAD.

摘要翻译： 本公开涉及用于诊断和筛选迟发性阿尔茨海默氏病（LOAD）的遗传标记和方法。 因此，本公开内容包括其中数量位于GRB2相关结合蛋白2（GAB2）基因内的单核苷酸多态性（SNP）以及与其他基因相关的其他标志物的全基因组关联分析。 该公开内容鉴定了GAB2基因内的两种新型单倍型，即LOAD风险增强和LOAD风险降低单体型。 这些单元型与APOE等位基因组合差异地修饰LOAD风险。 进一步包括降低与LOAD相关的细胞的恶化的治疗方法和试剂。