THBD 序列变异与复发性妊娠丢失可能相关。
THBD sequence variants potentially related to recurrent pregnancy loss.
机构信息
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.
出版信息
Reprod Biol Endocrinol. 2017 Dec 1;15(1):92. doi: 10.1186/s12958-017-0311-0.
Abstract
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.
摘要
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。
相似文献
1
THBD sequence variants potentially related to recurrent pregnancy loss.THBD 序列变异与复发性妊娠丢失可能相关。
Reprod Biol Endocrinol. 2017 Dec 1;15(1):92. doi: 10.1186/s12958-017-0311-0.
2
The association of idiopathic recurrent pregnancy loss with polymorphisms in hemostasis-related genes.特发性复发性妊娠丢失与止血相关基因多态性的关联。
Gene. 2013 Nov 10;530(2):248-52. doi: 10.1016/j.gene.2013.07.080. Epub 2013 Aug 14.
3
Novel nucleotide variations in the thrombomodulin (THBD) gene involved in coagulation pathways can increase the risk of recurrent pregnancy loss (RPL).血栓调节蛋白（THBD）基因中涉及凝血途径的新型核苷酸变异可增加复发性妊娠丢失（RPL）的风险。
Gene. 2024 Feb 15;895:148011. doi: 10.1016/j.gene.2023.148011. Epub 2023 Nov 17.
4
Polymorphisms in antithrombin and in tissue factor pathway inhibitor genes are associated with recurrent pregnancy loss.抗凝血酶和组织因子途径抑制物基因的多态性与复发性妊娠丢失有关。
Thromb Haemost. 2012 Oct;108(4):693-700. doi: 10.1160/TH12-03-0177. Epub 2012 Aug 23.
5
The association between polymorphisms of genes related to inflammation and recurrent pregnancy loss.炎症相关基因多态性与复发性流产之间的关联。
Gynecol Endocrinol. 2018 Apr;34(4):349-352. doi: 10.1080/09513590.2017.1395837. Epub 2017 Oct 31.
6
Plasminogen activator inhibitor 1 4G/5G and -844G/A variants in idiopathic recurrent pregnancy loss.纤溶酶原激活物抑制剂 1 4G/5G 和-844G/A 变体与特发性复发性妊娠丢失的关系。
Am J Reprod Immunol. 2013 Sep;70(3):246-52. doi: 10.1111/aji.12116. Epub 2013 Mar 22.
7
Genetic variation in the progesterone receptor gene and susceptibility to recurrent pregnancy loss: a case-control study.孕激素受体基因遗传变异与复发性妊娠丢失易感性的关系：一项病例对照研究。
BJOG. 2018 May;125(6):729-735. doi: 10.1111/1471-0528.14949. Epub 2017 Nov 13.
8
Association of endothelial nitric oxide synthase gene variants (-786 T>C, intron 4 b/a VNTR and 894 G>T) with idiopathic recurrent pregnancy loss: A case-control study with haplotype and in silico analysis.内皮型一氧化氮合酶基因变异体（-786 T>C、内含子4 b/a VNTR和894 G>T）与特发性复发性流产的关联：一项单倍型和计算机模拟分析的病例对照研究
Eur J Obstet Gynecol Reprod Biol. 2017 Aug;215:93-100. doi: 10.1016/j.ejogrb.2017.05.024. Epub 2017 May 30.
9
IL-10 gene promoter and intron polymorphisms and changes in IL-10 secretion in women with idiopathic recurrent miscarriage.特发性复发性流产女性白细胞介素-10基因启动子和内含子多态性及白细胞介素-10分泌变化
Hum Reprod. 2014 May;29(5):1025-34. doi: 10.1093/humrep/deu043. Epub 2014 Mar 13.
10
Investigating the role of gene family in recurrent pregnancy loss through bioinformatics and molecular approaches.通过生物信息学和分子方法研究基因家族在复发性妊娠丢失中的作用。
Syst Biol Reprod Med. 2021 Dec;67(6):450-462. doi: 10.1080/19396368.2021.1965673. Epub 2021 Sep 9.
引用本文的文献
1
Changes of new coagulation markers in healthy pregnant women and establishment of reference intervals in Changsha.长沙地区健康孕妇新凝血标志物的变化及参考区间的建立。
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Apr 28;47(4):469-478. doi: 10.11817/j.issn.1672-7347.2022.210536.
2
A systematic review to guide future efforts in the determination of genetic causes of pregnancy loss.一项系统性综述，以指导未来在确定流产遗传原因方面的工作。
Front Reprod Health. 2021;3. doi: 10.3389/frph.2021.770517. Epub 2021 Dec 15.
3
Exome-Sequencing Identifies Novel Genes Associated with Recurrent Pregnancy Loss in a Chinese Cohort.外显子组测序在中国人群队列中鉴定出与复发性流产相关的新基因。
Front Genet. 2021 Dec 2;12:746082. doi: 10.3389/fgene.2021.746082. eCollection 2021.
4
Genetic Variants Contributing to Early Recurrent Pregnancy Loss Etiology Identified by Sequencing Approaches.通过测序方法鉴定导致早期复发性妊娠丢失病因的遗传变异。
Reprod Sci. 2020 Aug;27(8):1541-1552. doi: 10.1007/s43032-020-00187-6.
5
Association between the rs2288947 polymorphism of the lncRNA TINCR gene and the risk of recurrent miscarriage in a Southern Chinese population.长链非编码 RNA TINCR 基因 rs2288947 多态性与中国南方人群复发性流产的风险相关。
J Clin Lab Anal. 2019 Jul;33(6):e22919. doi: 10.1002/jcla.22919. Epub 2019 May 23.
本文引用的文献
1
Whole exome sequencing identifies a mutation in thrombomodulin as the genetic cause of a suspected platelet disorder in a family with normal platelet function.全外显子组测序鉴定出血栓调节蛋白中的一个突变，该突变是一个血小板功能正常的家族中疑似血小板疾病的遗传原因。
Platelets. 2017 Sep;28(6):611-613. doi: 10.1080/09537104.2017.1283011. Epub 2017 Mar 7.
2
Genetic regulation of recurrent spontaneous abortion in humans.人类复发性自然流产的遗传调控。
Biomed J. 2015 Jan-Feb;38(1):11-24. doi: 10.4103/2319-4170.133777.
3
The association of idiopathic recurrent pregnancy loss with polymorphisms in hemostasis-related genes.特发性复发性妊娠丢失与止血相关基因多态性的关联。
Gene. 2013 Nov 10;530(2):248-52. doi: 10.1016/j.gene.2013.07.080. Epub 2013 Aug 14.
4
Association of the thrombomodulin gene c.1418C>T polymorphism with thrombomodulin levels and with venous thrombosis risk.血栓调节蛋白基因 c.1418C>T 多态性与血栓调节蛋白水平及静脉血栓形成风险的关联。
Arterioscler Thromb Vasc Biol. 2013 Jun;33(6):1435-40. doi: 10.1161/ATVBAHA.113.301360. Epub 2013 Mar 21.
5
Common genetic risk factors for venous thrombosis in the Chinese population.中国人群静脉血栓形成的常见遗传风险因素。
Am J Hum Genet. 2013 Feb 7;92(2):177-87. doi: 10.1016/j.ajhg.2012.12.013. Epub 2013 Jan 17.
6
Polymorphisms in antithrombin and in tissue factor pathway inhibitor genes are associated with recurrent pregnancy loss.抗凝血酶和组织因子途径抑制物基因的多态性与复发性妊娠丢失有关。
Thromb Haemost. 2012 Oct;108(4):693-700. doi: 10.1160/TH12-03-0177. Epub 2012 Aug 23.
7
The role of thrombomodulin lectin-like domain in inflammation.血栓调节蛋白凝集素样结构域在炎症中的作用。
J Biomed Sci. 2012 Mar 27;19(1):34. doi: 10.1186/1423-0127-19-34.
8
Variations in the thrombomodulin and endothelial protein C receptor genes in couples with recurrent miscarriage.复发性流产夫妇中血栓调节蛋白和内皮细胞蛋白C受体基因的变异
Hum Reprod. 2007 Mar;22(3):864-8. doi: 10.1093/humrep/del436. Epub 2006 Nov 11.
9
The role of thrombomodulin in atherosclerosis: from bench to bedside.血栓调节蛋白在动脉粥样硬化中的作用：从 bench 到 bedside（此处 bench 和 bedside 可根据上下文准确意译，比如“基础研究”和“临床应用”等）
Cardiovasc Hematol Agents Med Chem. 2006 Apr;4(2):183-7. doi: 10.2174/187152506776369953.
10
Haplotype of thrombomodulin gene associated with plasma thrombomodulin level and deep vein thrombosis in the Japanese population.日本人群中与血浆血栓调节蛋白水平及深静脉血栓形成相关的血栓调节蛋白基因单倍型
Thromb Res. 2007;119(1):35-43. doi: 10.1016/j.thromres.2005.12.012. Epub 2006 Feb 28.
Zotero 插件