Venous thromboembolism (VTE) is the predominant form of thrombosis in children and exhibits a strong genetic background as observed by familial aggregation. While data from diverse genome wide association studies (GWAS) and meta-analyses based on large study samples exist for adult patients, most reports on VTE in children rely on candidate gene studies based on small family collectives. However, results from adult patients cannot be directly transferred to children due to differences in their coagulation system and applicable environmental factors. By now, genetic variants in 8 genes have been described in the context of pediatric VTE, most of them connected to anticoagulation pathways. Since all these variants taken together cannot fully explain the observed heritability in pediatric VTE, further studies in pediatric study collectives are needed. Recently, the first GWAS on pediatric VTE has been carried out pointing towards vesicle processing in blood cells as process involved in pediatric VTE.
Keywords: Genetics; Genome-wide association studies (GWAS); Pediatric; Venous thromboembolism.
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