Center For Research in Genetics and Genomics-CIGGUR, GENIUROS Research Group, School of Medicine and Health Sciences, Universidad del Rosario, Carrera 24 N° 63C, -69, Bogotá, Colombia.
Department of Haematology, University Hospital, Nîmes, France.
Reprod Biol Endocrinol. 2017 Dec 1;15(1):92. doi: 10.1186/s12958-017-0311-0.
Recurrent pregnancy loss (RPL) is a frequently occurring disease, which is classified as idiopathic in more than 50% of cases. THBD, the endothelial cell receptor for thrombin, has been associated with distinct biological processes and considered a coherent RPL-related candidate gene. In the present study, we have sequenced the complete coding region of THBD in 262 patients affected by RPL. Bioinformatics analysis and screening of controls strongly suggested that the THBD-p.Trp153Gly mutation might be related to RPL aetiology. It could be used, after its validation by functional assays, as a molecular marker for diagnostic/prognostic purposes.
复发性流产（RPL）是一种常见疾病，其中超过 50%的病例为特发性。THBD 是凝血酶的内皮细胞受体，与多种生物学过程相关，被认为是一个与 RPL 相关的候选基因。本研究对 262 例 RPL 患者的 THBD 完整编码区进行了测序。生物信息学分析和对照筛选强烈表明，THBD-p.Trp153Gly 突变可能与 RPL 的发病机制有关。在经过功能检测验证后，它可以作为一种用于诊断/预后目的的分子标志物。
