Key result
Thrombophilia-associated FV1691 and FII20210G>A mutations show no significant link to female reproductive failure.
Why the study?
Reproductive failure may be explained by inherited thrombophilia, but the frequency of thrombophilia-associated genotypes in Serbian women with reproductive failure was not well established.
Are thrombophilia-associated genotypes more frequent in women with reproductive failure compared to healthy controls?
Case-Control
Are thrombophilia-associated genotypes more frequent in women with reproductive failure compared to healthy controls?
Absolute Event Rate: 1.87% vs 0.38%
p-value: p=0.076
Certain thrombophilia-associated mutations, such as FV1691G > A, may have a marginally higher frequency in women with reproductive failure.
Reproductive failure (recurrent foetal loss, unexplained infertility and IVF implantation failure) may be, in a number of cases, explained by thrombophilia, either acquired or inherited. Several genes contribute to thrombophilia, some with major effect (Factor V, Factor II), and some with minor effect (MTHFR, PAI-1, ATIII, etc.). The aim of this study was to estimate frequency of thrombophilia-associated genotypes (FII20210G > A, FV1691G > A, MTHFR677C > T and PAI-1 -675 4G/5G) in a group of 1631 Serbian women experiencing reproductive failure, and compare it with a healthy, female control group. Our results showed marginally significant (p = 0.050) differences in allele frequencies between patients and controls for the FV1691 mutations. For the FII20210G > A, although the statistical significance was not achieved (p = 0.076), we found higher frequency of variant allele in patients compared to controls (1.87% vs. 0.38%, respectively) which may point to a possible role of this polymorphism in thrombotic events. For the MTHFR677C > T and PAI-1 -675 4G/5G, we found no difference in distributions of genotype or allele frequencies between these two groups (p > 0.05). For three subjects with very rare genotypes (two patients homozygous for FV1691G > A and one patient homozygous for FII20210G > A) we performed additional biochemical analyses for haemostasis, as well as genotyping of two polymorphisms (MTHFR1298A > C and ATIII786G > A).
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Djurovic et al. (2016) conducted a case-control in Reproductive failure (recurrent foetal loss, unexplained infertility and IVF implantation failure). Thrombophilia-associated genotypes (FV1691G > A, FII20210G > A, MTHFR677C > T, PAI-1 -675 4G/5G) vs. Healthy female control group was evaluated on FII20210G > A variant allele frequency (p=0.076). Thrombophilia-associated FV1691 mutations showed marginally significant differences in women with reproductive failure (p=0.050), and FII20210G>A variant allele frequency was 1.87% vs 0.38% (p=0.076).
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