The impact of hereditary thrombophilias in recurrent pregnancy loss

4区 农林科学 Q3 Agricultural and Biological Sciences Genetika-Belgrade Pub Date : 2022-01-01 DOI:10.2298/gensr2203399k
E. Karagur, M. Alay, Aydın Demiray, N. Karagenç, O. Tokgün, T. Durak, H. Akça
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Abstract

Introduction: Recurrent pregnancy loss (RPL) is defined as two or more consecutive pregnancy loss which occurs before the 20th weeks of pregnancies for the last menstrual period. Hereditary cause of thrombophilic gene mutations and polymorphism may play an essential role in RPLs. Material and Method: 291 women with a history of two or more consecutive abortions as a study group and 61 women without the history of miscarriages as a control group were included in a study. In this study we analysed the effects of Factor II Prothrombin mutation ,FV Leiden mutation, MTHFR C677T, MTHFT A1298C, PAI-1, ?-fibrinogen, Factor XIIIA (V34L) and Glycoprotein IIIa (L33P) polymorphisms on RPL by using pyrosequencing. Chi-square and multiple regression analysis were used for statistical analysis. Results: FII prothrombin mutation, FV Leiden mutation, MTHFR C677T, MTHFR A1298C, PAI1 and Beta fibrinogen were found statistically significant in the chi-square test. Heterozygous FV G1691A (OR:8.092, CI: 1.280-51.165), homozygous MTHFR A1298C (OR:17.621, CI: 3.644 - 85.203), Heterozygous MTHFR C677T (OR: 2.921 CI: 0.811-10.515), Homozygous MTHFR C677T (OR: 3.619 CI: 1.647-7.954), heterozygous MTHFR A1298C (OR: 5.989, CI: 2.574-13.934), homozygous PAI1 (OR: 8.756, CI: 2.805 -27.334), heterozygous PAI1 ( OR: 7.114, CI: 3.145- 16.096) homozygous FibrinogenG455A (4.085, CI: 1.438-11.610) were found statistically significant in logistic regression analysis for RPL(p<0.05). Discussion: This study indicated that there is a significant association between thrombophilias and RPL. Therefore, it is important to detect thrombophilic mutations in RPL.
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遗传性血栓形成对复发性流产的影响
复发性妊娠丢失(RPL)是指在最后一次月经前连续两次或两次以上的妊娠丢失。亲血栓基因突变和多态性的遗传原因可能在RPLs中起重要作用。材料与方法:291例有两次及以上连续流产史的妇女作为研究组,61例无流产史的妇女作为对照组。本研究采用磷酸测序技术分析了凝血酶因子II原突变、FV Leiden突变、MTHFR C677T、MTHFT A1298C、PAI-1、-纤维蛋白原、因子XIIIA (V34L)和糖蛋白IIIa (L33P)多态性对RPL的影响。统计学分析采用卡方分析和多元回归分析。结果:FII凝血酶原突变、FV Leiden突变、MTHFR C677T、MTHFR A1298C、PAI1、β纤维蛋白原经卡方检验均有统计学意义。杂合子FV G1691A (OR:8.092, CI: 1.280 ~ 51.165)、纯合子MTHFR A1298C (OR:17.621, CI: 3.644 ~ 85.203)、纯合子MTHFR C677T (OR: 2.921 CI: 0.811 ~ 10.515)、纯合子MTHFR C677T (OR: 3.619 CI: 1.647 ~ 7.954)、纯合子MTHFR A1298C (OR: 5.989, CI: 2.574 ~ 13.934)、纯合子PAI1 (OR: 8.756, CI: 2.805 ~ 27.334)、纯合子fibrinogen455a (OR: 7.114, CI: 3.145 ~ 16.096)、纯合子fibrinogen455a (4.085, CI: 1.085)1.438 ~ 11.610)的RPL logistic回归分析差异有统计学意义(p<0.05)。讨论:本研究表明血栓形成与RPL之间存在显著关联。因此,检测RPL中的亲血栓性突变是很重要的。
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来源期刊
Genetika-Belgrade
Genetika-Belgrade AGRONOMY-GENETICS & HEREDITY
CiteScore
1.80
自引率
0.00%
发文量
1
审稿时长
6-12 weeks
期刊介绍: The GENETIKA is dedicated to genetic studies of all organisms including genetics of microorganisms, plant genetics, animal genetics, human genetics, molecular genetics, genomics, functional genomics, plant and animal breeding, population and evolutionary genetics, mutagenesis and genotoxicology and biotechnology.
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