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. 2021 Dec;16(1):1857525.
doi: 10.1080/19932820.2020.1857525.

Association of venous thromboembolism and myocardial infarction with Factor V Leiden and Factor II gene mutations among Libyan patients

Abdulghani Msalati  1 , Abdulla Bashein  1 , Murad Ghrew  2 , Ibtesam Khalil  3 , Khaled Sedaa  1 , Abushawashi Ali  4 , Ahmed Zaid  1
Affiliations

Association of venous thromboembolism and myocardial infarction with Factor V Leiden and Factor II gene mutations among Libyan patients

Abdulghani Msalati et al. Libyan J Med. 2021 Dec.

Abstract

Factor V Leiden G1691A (FVL) and Factor II prothrombin G20210A (PGM) mutations are the leading causes of thrombophilia. In this study, we have investigated the prevalence of the FVL G1691A and PGM G20210A single nucleotide polymorphisms (SNPs) among Libyan deep vein thrombosis (DVT) and myocardial infarction (MI) patients. SNP genotyping was performed using high-resolution melt analysis (HRM) and DNA sequencing. Biochemical parameters conducted on 112 males and 93 females showed no significant difference in means between the control group and the deep vein thrombosis and myocardial infarction groups. For Factor V Leiden, 40 samples were genotyped. Of the 40 samples, 6 (15.0%) of them were heterozygous and no one was homozygous. As for Factor II SNP, 59 samples were genotyped and only 2 (3.3%) were heterozygous. All the heterozygous samples showed 100% concordance between the HRM-PCR and DNA sequence analysis. Our study showed, for the first time, that both the FVL and PGM mutations are present among Libyan DVT and MI patients and that the FVL mutation is significantly associated with DVT but not with MI. However, our results do not support the association of PGM G20210A mutation with DVT or MI.

Keywords: Factor V Leiden; Gene polymorphisms; prothrombin G20210A; thrombophilia.

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Conflict of interest statement

No potential conflict of interest was reported by the authors.

Figures

Figure 1.
Figure 1.
Analysis of temperature-shifted difference curves showing HRM profiles of 1691GG, 1691 GA genotypes of G1691A Polymorphism of FVL. Wt = Wildtype
Figure 2.
Figure 2.
Analysis of temperature-shifted difference graph curves showing HRM profiles of 20210GG, 20210 GA genotypes of G20210A Polymorphism. Wt = Wildtype
Figure 3.
Figure 3.
Sequence analysis shows a wild type 1691GG (a) and heterozygous (b) mutation type 1691 GA. Pink arrow shows the position of the double peaks that represent heterozygous type 1691 GA
See this image and copyright information in PMC

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