López Fernández Juan Carlos, Rodríguez Esparragón Francisco, Buset Ríos Nisa
Servicio de Neurología, Hospital Universitario de Gran Canaria Dr. Negrín, Las Palmas de Gran Canaria, España.
Unidad de Investigación, Hospital Universitario de Gran Canaria Dr. Negrín, Las Palmas de Gran Canaria, España.
Med Clin (Barc). 2014 Aug 19;143(4):176-9. doi: 10.1016/j.medcli.2014.02.009. Epub 2014 Apr 1.
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.
中风是一种具有重大发病率、死亡率以及经济和社会影响的疾病。它是一个复杂的实体,其发病机制涉及多种环境和遗传因素,其中后者在高达50%的中风病例中发挥作用。本综述的目的是分析现有的基因诊断方法,包括拷贝数变异的连锁研究、基因候选近似法或全基因组关联研究(GWAS)以及与其发病机制相关的多态性。我们描述了在关联研究和GWAS中与中风相关的几种单核苷酸多态性(SNP),如血管紧张素、醛固酮系统、对氧磷酶、一氧化氮、凝血和纤维蛋白溶解系统等的SNP。我们还分析了某些多态性在颈动脉斑块、颅内动脉瘤和脑叶出血表型中的作用。还描述了SNP影响不同药物使用的反应和安全性的药物基因组学方面。还描述了几个对中风风险有显著影响的SNP。GWAS等技术的出现有助于对中风的遗传学和药物基因组学的理解。