RESUMEN
BACKGROUND: Platelet adhesion and aggregation are mediated by specific platelet membrane glycoproteins GPla/IIa, GPlb alpha, and GPIIb/IIIa, and are essential steps in thrombus formation and development of acute myocardial infarction. OBJECTIVE: To evaluate the risks exerted by each of the following polymorphisms in young males with AMI: HPA-1a/b in GPIIIa: 807C/T in GPIa; and HPA-2a/b. VNTR and Kozak C/T in GPlb alpha. METHODS: We conducted a case-control study of 100 young males with first AMI before the age of 53 and 119 healthy controls of similar age. All subjects were tested for the above polymorphisms. RESULTS: The allele frequencies of each of the platelet polymorphisms were not significantly different between the young man with AMI and the controls. Smoking alone was associated with a 9.97-fold risk, and the presence of at least one metabolic risk factor resulted in a 2.57-fold risk of AMI. CONCLUSION: The platelet glycoproteins polymorphisms studied are not an independent risk factor for AMI.
Asunto(s)
Infarto del Miocardio/genética , Glicoproteínas de Membrana Plaquetaria/genética , Polimorfismo Genético , Adulto , Alelos , Estudios de Casos y Controles , Distribución de Chi-Cuadrado , Frecuencia de los Genes , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Factores de RiesgoRESUMEN
Prothrombin 20210G>A and factor V Leiden are common prothrombotic mutations in whites for which founder effects have been established. In this study, we analyzed the frequencies of 5 single nucleotide polymorphisms (SNPs) and 9 microsatellites flanking the prothrombin gene (F2) in 88 homozygotes for 20210A and 66 homozygotes for 20210G. For estimating the age of the prothrombin 20210G>A mutation, we used the DMLE+2.0 program, which analyzed linkage disequilibria between the mutation and the multiple markers that had been assessed. This analysis yielded an age estimate of 23,720 years (95% credible set, 19,080-31,340 years). A similar analysis by the DMLE+2.0 program was performed on 5 SNPs from previously studied homozygotes for factor V Leiden and controls that yielded an age estimate of 21,340 years (95% credible set, 16,880-29,480 years). The occurrence of the 2 mutations in whites toward the end of the last glaciation and their presently wide distribution in whites suggest selective evolutionary advantages for which some evidence was reported (diminished blood loss) or is controversial (protection against infections).