Exomic rare variant polymorphisms (c. 300 000) were analysed in the Scripps Venous Thrombosis (VTE) registry (subjects aged <55 years). Besides coagulation factor V (F5) single nucleotide polymorphisms (SNPs), family with sequence similarity 134, member B (FAM134B; rs78314670, Arg127Cys) and myosin heavy chain 8 (MYH8; rs111567318, Glu1838Ala) SNPs were associated with recurrent VTE (n = 34 cases) (false discovery rate‐adjusted P < 0·05). FAM134B (rs78314670) was associated with low plasma levels of anticoagulant glucosylceramide. Analysis of 50 chr17p13.1 MYH rare SNPs (clustered skeletal myosin heavy chain genes) using collapsing methods was associated with recurrent VTE (P = 2·70 ×10⁻¹⁶). When intravenously injected, skeletal muscle myosin was pro‐coagulant in a haemophilia mouse tail bleeding model. Thus, FAM134B and MYH genetic variants are plausibly linked to VTE risk.

中文翻译：

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与静脉血栓形成相关的新型外显性罕见变体。

Exomic罕见变体多态性（Ç 300 000）。在斯克里普斯静脉血栓栓塞（VTE）注册表（受试者年龄<55岁）进行了分析。除了凝血因子V（F5）单核苷酸多态性（SNP），序列相似性为134的家族，成员B（FAM134B; rs78314670，Arg127Cys）和肌球蛋白重链8（MYH8 ; rs111567318，Glu1838Ala）SNP均与复发性VTE相关（n  = 34例）（错误发现率调整后的P  <0·05）。FAM134B（rs78314670）与抗凝剂葡萄糖神经酰胺的血浆水平低有关。50 chr17p13.1 MYH的分析使用折叠方法的罕见SNPs（集群的骨骼肌肌球蛋白重链基因）与复发性VTE相关（P  = 2·70×10 ^-16）。静脉注射时，血友病小鼠尾巴出血模型中的骨骼肌肌球蛋白是促凝剂。因此，FAM134B和MYH遗传变异可能与VTE风险相关。