Factor V Leiden G1691A, Prothrombin G20210A, and MTHFR C677T Mutations among Sudanese Women with Recurrent Pregnancy Loss

Background: Various factors, such as genetic causes, anatomic abnormalities of the uterus, infectious diseases, coagulative
disorders, and endocrinological and immunological diseases, might influence recurrent pregnancy loss (RLP). This study aimed
to evaluate the prevalence and frequency of the FII G20210A, FVL G1691A, and MTHFR C677T polymorphisms in Sudanese
women with RPL.
Methods and Results: This descriptive cross-sectional study involved 100 women with a history of 3 or more RPLs (the case
group) and 94 healthy multiparous women without pregnancy complications (the control group). DNA was extracted from peripheral
blood samples. The study of the FII G20210A, FVL G1691A, and MTHFR C677T polymorphisms was performed by PCR and RFLP
analysis. For the FII G20210A, the genotype distribution in the case group and control group was as follows: GG=97.0%, GA=3.0%,
AA=0% and GG=94.0%, GA=0%, AA=0%, respectively. In the case group, the allelic distribution was as follows: G=98.5%, A=1.5%.
In the control group, the A allele was absent, and the frequency of the G allele was 100%. For the MTHFR C677T, the genotypic and
allelic frequencies in the case group were 97%, 3%, and 0%, respectively, for the CC, CT, and TT genotypes, and 98.5% and 1.5%,
respectively, for the C and T alleles. In the control group, the genotype distribution was as follows: CC-100% CT-0%, TT-0%; the
T allele was absent, and the frequency of the C allele was 100%. For the FVL G1691A, the genotype distribution in the case group
and control group was as follows: GG=92.0%, GA=8.0%, AA=0% and GG=93.6%, GA=6.4%, AA=0%, respectively. For G and
A alleles, the frequencies were 96.0% and 4.0%, respectively, for the case group, and 96.8% and 3.2%, respectively, for the control
group. Our analysis did not reveal a significant positive association between the MTHFR C677T, FII G20210A, and FVL G1691A
polymorphisms and the risk of RPL across the dominant model, multiplicative model, and a comparison of the frequencies of the
heterozygous and homozygous dominant genotypes.
Conclusion: The research findings suggest that the MTHFR C677T, FVL G1691A, and FII G20210A variants do not
significantly contribute to the increased susceptibility to RPL in this specific population of Sudanese women.