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

IF 2.3 4区 医学 Q2 HEMATOLOGY
Ola M Al-Sanabra, Laith N Al-Eitan, Yazun Jarrar, Maryam Alasmar, Hala M Al-Taleb, Njoud M Altaleb
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引用次数: 0

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 SERPINC1, PROC, PROS1, PROZ, F5, F13A1, and CPB2 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 PROS1 was significantly associated with RSA in Jordanian women under the allelic (OR = 2.06, p = .014), codominant (OR = 2.05, p = .021), dominant (OR = 1.27, p = .015), and overdominant (OR = 1.91, p = .03) genetic models. Additionally, significant associations in the recessive model were observed for the rs1799810 and the rs1926447 polymorphisms in PROC (OR = 1.66, p = .038) and in CPB2 (OR = 1.89, p = .046), respectively. Our data preliminary demonstrates that the rs8178607, rs1799810, and rs1926447 genotypes of PROS1, PROC, and CPB2 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.

亲血栓性PROS1, PROC和CPB2基因多态性与约旦妇女复发性自然流产的新关联。
复发性自然流产(RSM)是一种多因素的妇科并发症,包括遗传因素。然而,在约旦妇女的RSA中,亲血栓基因多态性的作用是有限的。本研究探讨了约旦孕妇serpin1、PROC、PROS1、PROZ、F5、F13A1和CPB2基因多态性与RSA风险之间的关系。抽取188例复发性自然流产(RSM)妇女和193例无流产史的对照者的血液样本。提取基因组DNA,利用竞争性等位基因特异性聚合酶链反应(competitive等位基因Specific Polymerase Chain Reaction)分析亲血栓基因的多态性。使用SNPStats工具评估单倍型、基因型和等位基因频率,采用χ 2检验评估统计学显著性。共分析了7个亲血栓基因。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)和过显性(OR = 1.91, p = 0.03)遗传模型下,约旦女性PROS1 rs8178607多态性与RSA显著相关。此外,rs1799810多态性和rs1926447多态性在PROC (OR = 1.66, p = 0.038)和CPB2 (OR = 1.89, p = 0.046)中分别存在显著的隐性关联。我们的数据初步表明,PROS1、PROC和CPB2基因型rs8178607、rs1799810和rs1926447分别与约旦孕妇患RSA的风险增加有关。进一步研究更大的队列和基于家庭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是必不可少的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
4.40
自引率
3.40%
发文量
150
审稿时长
2 months
期刊介绍: CATH is a peer-reviewed bi-monthly journal that addresses the practical clinical and laboratory issues involved in managing bleeding and clotting disorders, especially those related to thrombosis, hemostasis, and vascular disorders. CATH covers clinical trials, studies on etiology, pathophysiology, diagnosis and treatment of thrombohemorrhagic disorders.
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