title: [Genetic variants, cardiovascular risk and genome-wide association studies].
abstract: Genome-wide association studies have shown an association between single nucleotide polymorphisms (SNPs) and coronary artery disease and myocardial infarction in new chromosomal regions: 1p13.1, 2q36.3, 9p21 and 10q11.21. The SNPs from the 9p21 region constitute a risk haplotype due to the strong linkage disequilibrium in this area. These SNPs have been extensively replicated in several European and Asian populations, and are associated with other pathologies such as abdominal aortic and intracranial aneurysms, and with intermediate phenotypes such as arterial stiffness and coronary calcium. The risk haplotype of 9p21 is located in a region without annotated genes, near CDKN2A and CDKN2B, known tumor suppressor genes encoding for inhibitors of cell cycle kinases. In the remaining regions the SNPs are located in genes with known roles in atherosclerosis as well as others with new roles. It has been shown that the incorporation of genetic information in the form of SNPs slightly improves the prediction of long-term cardiovascular risk estimated by the Framingham function, allowing the reclassification of individuals into more precise categories. Gene expression studies have found that expression levels of CDKN2A/CDKN2B/ANRIL are co-regulated and associated with the risk haplotype and atherosclerosis severity.
authors.affiliation: Unidad de Investigación, Hospital Universitario de Gran Canaria Dr. Negrín, Universidad de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, España.
authors.forename: Osmel
authors.initials: O
authors.lastname: Companioni
authors.forename: Francisco
authors.initials: F
authors.lastname: Rodríguez Esparragón
authors.forename: Alfonso Medina
authors.initials: AM
authors.lastname: Fernández-Aceituno
authors.forename: José Carlos
authors.initials: JC
authors.lastname: Rodríguez Pérez
mesh_terms: D002318:Cardiovascular Diseases / Q000453:epidemiology* / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D006801:Humans; D009203:Myocardial Infarction / Q000453:epidemiology / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011237:Predictive Value of Tests; D012307:Risk Factors