Genetic polymorphisms associated with venous thrombosis, methods of detection and uses thereof

Abstract

The present invention is based on the discovery of genetic polymorphisms that are associated with coronary heart disease and in particular VT and response to drug treatment. 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 for identifying a human who has an altered risk for developing venous thrombosis (VT), comprising detecting a single nucleotide polymorphism (SNP) as specified in any one of the nucleotide sequences of SEQ ID NOs: 41-68 and 82-199 or a complement thereof, in said human's nucleic acids, wherein the presence of the SNP is indicative of an altered risk for VT in said human. 
     
     
         2 . The method of  claim 1  in which the altered risk is an increased risk. 
     
     
         3 . The method of  claim 1  in which the altered risk is a decreased risk. 
     
     
         4 . The method of  claim 1  in which the detecting 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, and single-stranded conformation polymorphism. 
     
     
         5 . A method for identifying a human who has an altered risk for developing venous thrombosis (VT), comprising detecting a first single nucleotide polymorphism (SNP) which is in linkage disequilibrium (LD) with a second SNP as specified in any one of the nucleotide sequences of SEQ ID NOs: 41-68 and 82-199 or a complement thereof, in said human's nucleic acids, wherein the presence of said first SNP is indicative of an altered risk for VT in said human. 
     
     
         6 . The method of  claim 5  in which the altered risk is an increased risk. 
     
     
         7 . The method of  claim 5  in which the altered risk is a decreased risk. 
     
     
         8 . The method of  claim 5  in which the detecting 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, and single-stranded conformation polymorphism. 
     
     
         9 - 12 . (canceled) 
     
     
         13 . A method for identifying a human who is in need of receiving treatment for venous thrombosis (VT), comprising detecting a single nucleotide polymorphism (SNP) as specified in any one of the nucleic acid sequences of SEQ ID NOs: 41-68 and 82-199, in a sample from said human, and treating said human with a therapeutic agent. 
     
     
         14 . The method of  claim 13  wherein said therapeutic agent comprises a chemical entity. 
     
     
         15 . The method of  claim 13  wherein said therapeutic agent comprises an antibody. 
     
     
         16 - 20 . (canceled)