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约旦血栓形成倾向相关的PROS1、PROC和CPB2基因多态性与复发性自然流产女性的新关联

Novel Association of Thrombophilic PROS1, PROC and CPB2 Genes Polymorphisms with Recurrent Spontaneous Miscarriage Women in Jordan.

作者信息

Al-Sanabra Ola M, Al-Eitan Laith N, Jarrar Yazun, Alasmar Maryam, Al-Taleb Hala M, Altaleb Njoud M

机构信息

Department of Medical Laboratory Sciences, Faculty of Allied Medical Sciences, Al-Balqa Applied University, Al-Salt, Jordan.

Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid, Jordan.

出版信息

Clin Appl Thromb Hemost. 2025 Jan-Dec;31:10760296251333783. doi: 10.1177/10760296251333783. Epub 2025 Apr 15.

Abstract

Recurrent spontaneous miscarriage (RSM) is a gynecological complication has multifactorial etiologies including genetic factors. However, role of thrombophilic gene polymorphisms in RSA among Jordanian women is limited. This study explores the association between polymorphisms in , and and RSA risk in Jordanian pregnant women. Blood samples were taken from 188 women with recurrent spontaneous miscarriage (RSM) and 193 control subjects without a history of miscarriage. Genomic DNA was extracted and analyzed for polymorphisms of thrombophilic genes using Kompetitive Allele Specific Polymerase Chain Reaction. The SNPStats tool was used to assess haplotype, genotype, and allele frequencies, with chi-square (χ²) tests employed to evaluate statistical significance. A total of seven thrombophilic genes were analyzed. The rs8178607 polymorphism in was significantly associated with RSA in Jordanian women under the allelic (OR = 2.06, = .014), codominant (OR = 2.05, = .021), dominant (OR = 1.27, = .015), and overdominant (OR = 1.91, = .03) genetic models. Additionally, significant associations in the recessive model were observed for the rs1799810 and the rs1926447 polymorphisms in (OR = 1.66, = .038) and in (OR = 1.89, = .046), respectively. Our data preliminary demonstrates that the rs8178607, rs1799810, and rs1926447 genotypes of and respectively are associated with an increased risk of RSA among Jordanian pregnant women. Further investigations with larger cohorts and family-based analyses are essential to elucidate the genetic variation of biochemical pathways and mechanisms influences recurrent miscarriage susceptibility.

摘要

复发性自然流产(RSM)是一种具有多因素病因(包括遗传因素)的妇科并发症。然而,血栓形成基因多态性在约旦女性复发性流产(RSA)中的作用有限。本研究探讨了凝血酶原基因(F2)、凝血酶原基因(F5)和亚甲基四氢叶酸还原酶基因(MTHFR)的多态性与约旦孕妇RSA风险之间的关联。从188例复发性自然流产(RSM)女性和193例无流产史的对照受试者中采集血样。提取基因组DNA,并使用竞争性等位基因特异性聚合酶链反应分析血栓形成基因的多态性。使用SNPStats工具评估单倍型、基因型和等位基因频率,并采用卡方(χ²)检验评估统计学意义。共分析了7个血栓形成基因。F2基因的rs8178607多态性在等位基因(OR = 2.06,P = 0.014)、共显性(OR = 2.05,P = 0.021)、显性(OR = 1.27,P = 0.015)和超显性(OR = 1.91,P = 0.03)遗传模型中与约旦女性的RSA显著相关。此外,在隐性模型中分别观察到F5基因的rs1799810多态性(OR = 1.66,P = 0.038)和MTHFR基因的rs1926447多态性(OR = 1.89,P = 0.046)有显著关联。我们的数据初步表明,F2基因的rs8178607、F5基因的rs1799810和MTHFR基因的rs1926447基因型分别与约旦孕妇RSA风险增加相关。进一步进行更大样本量的队列研究和基于家系的分析对于阐明影响复发性流产易感性的生化途径和机制的遗传变异至关重要。

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本文引用的文献

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Hereditary thrombophilia genetic variants in recurrent pregnancy loss.遗传性血栓形成倾向的基因变异与复发性妊娠丢失。
Arch Gynecol Obstet. 2019 Sep;300(3):777-782. doi: 10.1007/s00404-019-05224-7. Epub 2019 Jul 17.

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