title: [Frequently associated genotypes to thrombophilia].
abstract: Venous thromboembolism is an important pathological entity that causes high morbidity due either to the disease or its complications. The incidence in the world ranges between 1:100 in adults and 1:100,000 in children. Risk factors for the disease include genetic as well as environmental factors. Among them, factor V Leiden (G1691A), prothrombin (G20210A) and MTHFR C677T and A1298C (which until recently were considered risk factors), have been widely studied given their impact in the world. This review presents in a clear and concise way what a thrombous is and how it is formed; how a clot is able to produce thromboembolic disease; what are the main nosological entities involved, and their main genetic causes. The most epidemiologically important genetic alterations and studies conducted in Colombia will be emphasized.
authors: Roskamp Laboratory, Department of Psychiatry and Neurosciences, University of South Florida, Tampa, Florida, USA.
authors: Helena
authors: H
authors: Hernández-Cuervo
authors: Grupo de Patología Molecular, Departamento de Patología, Facultad de Medicina e Instituto de Genética, Universidad Nacional de Colombia, Bogotá, D.C, Colombia.
authors: Solangy
authors: S
authors: Usme
authors: Departamento de Patología, Instituto de Genética, Facultad de Medicina, Bogotá, D.C, Colombia.
authors: Juan J
authors: JJ
authors: Yunis
mesh_terms: D005165:Factor V / Q000235:genetics; D005838:Genotype; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D009154:Mutation; D019851:Thrombophilia / Q000235:genetics*
chemical_list: D005165:Factor V; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)