C - Chemistry – Metallurgy – 40 – B
Patent
C - Chemistry, Metallurgy
40
B
C40B 40/06 (2006.01) A01K 67/027 (2006.01) A61K 31/7088 (2006.01) A61K 31/713 (2006.01) A61K 48/00 (2006.01) C12Q 1/00 (2006.01) C12Q 1/02 (2006.01) C12Q 1/48 (2006.01) C12Q 1/68 (2006.01) G01N 33/53 (2006.01) G01N 33/573 (2006.01) C07K 14/775 (2006.01)
Patent
CA 2683083
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.
L'invention concerne des marqueurs génétiques et des méthodes de diagnostic et de criblage de maladie d'Alzheimer apparue tardivement (LOAD). L'invention concerne également une analyse d'association sur le génome entier de polymorphismes de nucléotide simple (SNP), dont un certain nombre sont situés dans le gène de la protéine de liaison 2 associée à GRB2 (GAB2), ainsi que d'autres marqueurs associés à d'autres gènes. L'invention permet d'identifier deux nouveaux haplotypes dans le gène GAB2, c'est-à-dire, un haplotype d'atténuation de risque de LOAD et un haplotype de limitation de risque de LOAD. Ces haplotypes permettent de modifier le risque de LOAD de manière différente en association avec des allèles APOE. L'invention concerne en outre des méthodes thérapeutiques et des agents pour limiter la détérioration de cellules associées à LOAD.
Heward Christopher B.
Papassotiropoulos Andreas
Reiman Eric M.
Stephan Dietrich A.
Webster Jennifer
Gowling Lafleur Henderson Llp
Kronos Science Laboratory
Translational Genomics Research Institute
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