Prevalence of Factor V Leiden G1691A and Prothrombin G20210A Gene Mutation Among Pregnant Women: Experience from a Multi-Center Study in Nigeria

Abstract

Introduction

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.

Purpose

To determine the prevalence and distribution of FVL G1691A and F2 G20210A in pregnant women in Lagos, Nigeria.

Patients and Methods

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.

Results

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.

Conclusion

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.

Keywords:

• factor V Leiden G1691A
• prothrombin G20210A gene mutation
• factor 2
• factor V
• preeclampsia
• venous thromboembolism

Abbreviations

VTE, venous thromboembolism; PET, preeclampsia; FVL, factor V Leiden; EDTA, ethylenediaminetetraacetic acid; DNA, deoxyribonucleic acid; rhAmp, RNAse H amplification; dbSNP, SNP database.

Data Sharing Statement

All data are available from the corresponding author on request. Supplementary data was submitted with this paper.

Ethics Approval and Consent to Participate

The study protocol was permitted by the Ethics Committee of the College of Medicine University of Lagos and adhered to the Declaration of Helsinki principles. Informed written consent was obtained from each subject.

Acknowledgments

The authors thank the physicians and patients who participated in the present study.

Author Contributions

SOJ conceptualized and designed the study and wrote the paper, AJ performed the genetic analysis and GO performed the statistical analysis, analyzed and interpreted the patient data. AAO and ASA both helped in the revision of the paper. KSO and OIA helped in the collection of the data, analyzed and interpreted the patient data and helped with revising the paper. All authors made substantial contributions to conception and design, acquisition of data, or analysis and interpretation of data; took part in drafting the article or revising it critically for important intellectual content; agreed to submit to the current journal; gave final approval of the version to be published; and agree to be accountable for all aspects of the work.

Disclosure

The authors report no conflicts of interest in this work.

Additional information

Funding

This research was supported by the Fogarty International Center of the National Institutes of Health under Award Number D43TW010134. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.