[Update on the genetics of stroke]

Abstract

Stroke is a disease with significant morbidity, mortality, and economic and social impacts. It is a complex entity whose pathogenesis involves multiple environmental and genetic factors, with the latter having a role in up to 50% of strokes. The objective of the review is to analyze the available methods for the genetic diagnosis including linkage studies of variation in copy number, gene - candidate approximations, or whole genome (GWAS) and polymorphisms associated with its pathogenesis. We describe several single nucleotide polymorphisms (SNPs) associated with stroke in association studies and GWAS such as SNPs of angiotensin, the aldosterone system, paraoxonases, nitric oxide, coagulation, and fibrinolysis system, among others. We also analyze the role of certain polymorphisms in the phenotype of the carotid plaque, intracranial aneurysms and lobar hemorrhages. Pharmacogenomic aspects in which SNPs affect the response and safety regarding the use of different drugs are also described. Several SNPs that significantly contribute to the risk of stroke are also described. The advent of techniques like GWAS has contributed to the understanding of genetics and pharmacogenomics of stroke.

Keywords: Estudios genoma completo; Genetics; Genome-wide association studies; Genética; Ictus; Polimorfismos de un solo nucleótido; Single nucleotide polymorphisms; Stroke.