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儿童静脉血栓栓塞症中的遗传因素。

Genetic factors in pediatric venous thromboembolism.

作者信息

Rühle Frank, Stoll Monika

机构信息

Institute of Human Genetics, Genetic Epidemiology, University of Müenster, Münster, Germany.

Institute of Human Genetics, Genetic Epidemiology, University of Müenster, Münster, Germany; Cardiovascular Research Institute Maastricht (CARIM), Genetic Epidemiology and Statistical Genetics, Maastricht Center for Systems Biology (MaCSBio), Maastricht University, Maastricht, The Netherlands.

出版信息

Thromb Res. 2017 Mar;151 Suppl 1:S97-S99. doi: 10.1016/S0049-3848(17)30077-4.

Abstract

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.

摘要

静脉血栓栓塞症(VTE)是儿童血栓形成的主要形式,并且如家族聚集现象所示,具有很强的遗传背景。虽然针对成年患者已有来自各种全基因组关联研究(GWAS)以及基于大型研究样本的荟萃分析的数据,但大多数关于儿童VTE的报告依赖于基于小家庭群体的候选基因研究。然而,由于成年患者与儿童在凝血系统及适用的环境因素方面存在差异,成年患者的研究结果不能直接应用于儿童。到目前为止,已经在儿科VTE背景下描述了8个基因的遗传变异,其中大多数与抗凝途径相关。由于所有这些变异并不能完全解释儿科VTE中观察到的遗传度,因此需要在儿科研究群体中进行进一步研究。最近,已经开展了第一项关于儿科VTE的GWAS,表明血细胞中的囊泡处理过程与儿科VTE有关。

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