POLYMORPHISMS AND HAPLOTYPES IN P2X7 GENE AND THEIR USE IN DETERMINING SUSCEPTIBILITY FOR ATHEROSCLEROSIS-MEDIATED DISEASES

摘要

This invention relates to polymorphisms and haplotypes in the human P2X7 gene and their use in determining susceptibility for atherosclerosis mediated disease. In particular, the invention relates to two polymorphisms in the coding sequence of the P2X7 gene, each of which lead to an amino acid change in the sequence of expressed protein; three single nucleotide polymorphisms (SNPs) in the promoter region; one SNP in the 5' UTR and seven SNPs in intronic sequence. The invention also relates to methods and materials for analysing allelic variation in the P2X7 gene, and to the use of P2X7 polymorphism in treatment of P2X7 -mediated diseases such as myocardial infarction and other atherosclerosis-associated diseases.