title: The P2Y 13 Met-158-Thr polymorphism, which is in linkage disequilibrium with the P2Y 12 locus, is not associated with acute myocardial infarction.
abstract: OBJECTIVE
  The aims of this study were to investigate (1) if P2Y(12) polymorphisms defining the P2Y(12) H2 allele are associated with any other SNPs that may explain the previously reported association with increased ADP induced platelet activation and association with peripheral arterial disease and coronary artery disease and (2) if such variants are associated with acute myocardial infarction (AMI) or classical risk factors for AMI.
  
  
  RESULTS
  The P2Y(13) Met-158-Thr polymorphism was found to be in linkage disequilibrium (LD) with the P2Y(12) H2 haplotype (all examined SNPs: D' = 1.0, r(2) = 0.936-1.0), defining a novel P2Y(12) H2/P2Y(13) Thr-158 haplotype. Genotyping of an AMI case control population (n = 1244 cases, 2488 controls) revealed no association of the P2Y(13) Thr-158 allele with AMI (OR = 0.96, 95% C.I. 0.82-1.12, P = 0.63). Also, no differences between the genotype frequencies of P2Y(13) Met-158-Met and Met-158-Thr/Thr-158-Thr were seen in AMI case-control subpopulations (early onset AMI OR = 1.06, 95% C.I. 0.85-1.31, P = 0.62); family history of AMI (OR = 0.98, 95% C.I. 0.78-1.22, P = 0.83) nor in early onset AMIs with family history of AMI (OR = 1.0, 95% C.I. 0.74-1.36, P = 1.0). Genotyping of the P2Y(13) Met-158-Thr polymorphism in a population based sample (n = 6055) revealed no association with cardiovascular risk factors. In addition, the P2Y(13) Met-158-Thr polymorphism was genotyped in a diabetes case-control population, and associations were found neither with DM nor with any examined DM risk factors. CONCLUSION GENOTYPING: The P2Y(13) Met-158-Thr polymorphism is in tight LD with the P2Y(12) locus but is not associated with AMI or classical cardiovascular risk factors.
authors.affiliation: Department of Cardiology, Lund University Hospital, Lund, Sweden.
authors.forename: Stefan
authors.initials: S
authors.lastname: Amisten
authors.forename: Oscar O
authors.initials: OO
authors.lastname: Braun
authors.forename: Lovisa
authors.initials: L
authors.lastname: Johansson
authors.forename: Martin
authors.initials: M
authors.lastname: Ridderstråle
authors.forename: Olle
authors.initials: O
authors.lastname: Melander
authors.forename: David
authors.initials: D
authors.lastname: Erlinge
mesh_terms: D016022:Case-Control Studies; D006801:Humans; D015810:Linkage Disequilibrium; D009203:Myocardial Infarction / Q000235:genetics*; D011110:Polymorphism, Genetic; D018048:Receptors, Purinergic P2 / Q000235:genetics*
chemical_list: D018048:Receptors, Purinergic P2