title: Inherited risk factors for thrombotic diseases in children: the genome-wide perspective.
abstract: As a result of technological advances in the field of high-throughput genomics, there has been a remarkable transition in studying the nature of complex genetic disorders. The genetic analysis of prothrombotic risk factors has shifted from candidate gene to genome-wide association studies (GWAS) in adults. GWAS established a framework in which up to 90% of common genetic variation can be analyzed in a single experiment. Given the ubiquity of the GWAS approach in the adult population, it will become essential for clinicians and researchers in the field of pediatrics to interpret results derived from genetic high-throughput studies. Here, we review the current knowledge regarding genetic factors affecting prothrombotic risk in children and adults. Advantages and pitfalls of the GWAS approach are discussed, including the use of intermediate phenotypes, deep resequencing, and the differences between family-based and association studies. Intelligently designed and well-powered studies incorporating stringent phenotype assessment will contribute to decipher the genetic basis of stroke and venous thrombosis in children.
authors.affiliation: Department of Genetic Epidemiology of Vascular Disorders, Leibniz-Institut for Arteriosclerosis Research at the Westfälische Wilhelms-University Muenster, Münster, Germany.
authors.forename: Christoph
authors.initials: C
authors.lastname: Preuss
authors.forename: Monika
authors.initials: M
authors.lastname: Stoll
mesh_terms: D000328:Adult; D000925:Anticoagulants / Q000008:administration & dosage; D002648:Child; D004351:Drug Resistance / Q000235:genetics; D005165:Factor V / Q000235:genetics; D005190:Family; D005340:Fibrinogen / Q000235:genetics; D055106:Genome-Wide Association Study; D006801:Humans; D007231:Infant, Newborn; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D010641:Phenotype; D012307:Risk Factors; D020521:Stroke / Q000235:genetics*; D019851:Thrombophilia / Q000235:genetics; D020246:Venous Thrombosis / Q000235:genetics*
chemical_list: D000925:Anticoagulants; D005165:Factor V; D005340:Fibrinogen; D042965:Methylenetetrahydrofolate Reductase (NADPH2)