John-Olabode Sarah O, Okunade Kehinde S, James Ayorinde, Olorunfemi Gbenga, Ajie Obiefuna I, Osuntoki Akinniyi A, Akanmu Alani S
Department of Hematology and Blood Transfusion, College of Medicine, University of Lagos, Lagos, Nigeria.
Department of Obstetrics and Gynecology, College of Medicine, University of Lagos, Lagos, Nigeria.
J Blood Med. 2021 May 18;12:307-312. doi: 10.2147/JBM.S308997. eCollection 2021.
Inherited thrombophilia and venous thromboembolism (VTE) have been closely linked to adverse pregnancy outcomes such as preeclampsia/eclampsia contributing to increased maternal and perinatal morbidity and mortality. There is, however, little genetic data from Africa including Nigeria that explores the prevalence of common VTE genetic risk markers such as factor V Leiden mutation (FVL G1691A) and prothrombin gene mutation (F2 G20210A) among pregnant women in Nigeria.
To determine the prevalence and distribution of FVL G1691A and F2 G20210A in pregnant women in Lagos, Nigeria.
This hospital-based cross-sectional pilot study was conducted among pregnant women between 1 July 2019 and 31 August 2020. The genotype of interest was determined through amplification by polymerase chain reaction using G1691A of FV and prothrombin A20210G specific primers. Descriptive data were presented using Stata version 15 (Stata Corp) statistical software.
Of the 400 recruited participants, 397 and 389 samples were successfully processed for FVL G1691A and F2 G20210A mutations, respectively. Three participants had FVL heterozygous mutation; thus, the prevalence of heterozygous mutation of FVL among the study participants was 0.76%, 95% CI: 0.002-0.023%, n=3/397. There was no F2 G20210A mutation detected among the study participants.
This study indicates that screening for factor V Leiden mutation and prothrombin gene mutation in pregnancy might not be of any clinical significance among Nigerian women. However, carrying out a genome-wide associated study is recommended to determine the true impact of these two common inherited thrombophilias in this population.
遗传性血栓形成倾向和静脉血栓栓塞症(VTE)与不良妊娠结局密切相关,如先兆子痫/子痫,这会导致孕产妇和围产儿发病率及死亡率增加。然而,来自非洲(包括尼日利亚)的遗传数据很少,这些数据探索了尼日利亚孕妇中常见的VTE遗传风险标志物,如因子V莱顿突变(FVL G1691A)和凝血酶原基因突变(F2 G20210A)的患病率。
确定尼日利亚拉各斯孕妇中FVL G1691A和F2 G20210A的患病率及分布情况。
这项基于医院的横断面试点研究于2019年7月1日至2020年8月31日期间在孕妇中进行。通过使用FV的G1691A和凝血酶原A20210G特异性引物进行聚合酶链反应扩增来确定感兴趣的基因型。使用Stata 15版(Stata公司)统计软件呈现描述性数据。
在400名招募的参与者中,分别成功处理了397份和389份样本用于FVL G1691A和F2 G20210A突变检测。三名参与者有FVL杂合突变;因此,研究参与者中FVL杂合突变的患病率为0.76%,95%置信区间:0.002 - 0.023%,n = 3/397。在研究参与者中未检测到F2 G20210A突变。
本研究表明,在尼日利亚女性中,孕期筛查因子V莱顿突变和凝血酶原基因突变可能没有任何临床意义。然而,建议进行全基因组关联研究,以确定这两种常见的遗传性血栓形成倾向在该人群中的真正影响。