Genetic polymorphisms associated with alzheimer's disease, methods of detection and uses thereof

Abstract

The present invention is based on the discovery of genetic polymorphisms that are associated with Alzheimer's Disease. In particular, the present invention relates to nucleic acid molecules containing the polymorphisms, variant proteins encoded by such nucleic acid molecules, reagents for detecting the polymorphic nucleic acid molecules and proteins, and methods of using the nucleic acid and proteins as well as methods of using reagents for their detection.

1 . A method of determining whether a human has an increased risk for developing Alzheimer's disease, comprising testing nucleic acid from said human for the presence or absence of a polymorphism in said human's nucleic acid, wherein said polymorphism is at position 101 of any of SEQ ID NOS:177-254, and correlating the presence or absence of said polymorphism with said human having an increased risk for developing Alzheimer's disease. 
     
     
         2 . The method of  claim 1 , wherein said nucleic acid is a nucleic acid extract from a biological sample from said human. 
     
     
         3 . The method of  claim 2 , wherein said biological sample is blood, saliva, or buccal cells. 
     
     
         4 . The method of  claim 2 , further comprising preparing said nucleic acid extract from said biological sample prior to said testing step. 
     
     
         5 . The method of  claim 4 , further comprising obtaining said biological sample from said human prior to said preparing step. 
     
     
         6 . The method of  claim 1 , wherein said testing step comprises nucleic acid amplification. 
     
     
         7 . The method of  claim 6 , wherein said nucleic acid amplification is carried out by polymerase chain reaction. 
     
     
         8 . The method of  claim 1 , wherein said correlating step is performed by computer software. 
     
     
         9 . The method of  claim 1 , wherein said testing is carried out by a process selected from the group consisting of: allele-specific probe hybridization, allele-specific primer extension, allele-specific amplification, sequencing, 5′ nuclease digestion, molecular beacon assay, oligonucleotide ligation assay, size analysis, single-stranded conformation polymorphism (SSCP), and denaturing gradient gel electrophoresis (DGGE). 
     
     
         10 . A method of determining whether a human has an increased risk for developing Alzheimer's disease, comprising testing nucleic acid from said human for the presence or absence of an LD polymorphism in said human's nucleic acid, wherein said LD polymorphism is in linkage disequilibrium with a polymorphism at position 101 of any of SEQ ID NOS:177-254, and correlating the presence or absence of said LD polymorphism with said human having an increased risk for developing Alzheimer's disease. 
     
     
         11 - 18 . (canceled) 
     
     
         19 . A method for administering a therapeutic agent, the method comprising genotyping one or more polymorphisms at position 101 of any of SEQ ID NOS:177-254 in the nucleic acid of at least one individual, and either administering the therapeutic agent to the individual if the results of said genotyping indicated that said individual is likely to respond to said therapeutic agent, or not administering the therapeutic agent to the individual if the results of said genotyping indicated that said individual is not likely to respond to said therapeutic agent. 
     
     
         20 . (canceled)