Large‐scale screening for factor V Leiden (<scp>G1691A</scp>), prothrombin (<scp>G20210A</scp>), and <scp>MTHFR</scp> (<scp>C677T</scp>) mutations in Greek population

Raptopoulou, Alkistis; Michou, Vassiliki; Mourtzi, Niki; Papageorgiou, E.; Voyiatzaki, Chrysa; Tsilivakos, Vassilis; Beloukas, Apostolos; Bei, Thaleia A

doi:10.1002/hsr2.457

Cited by 5 publications

(5 citation statements)

References 25 publications

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“…We found negative associations in all of the studied SNPs, and this was supported by previous studies of thrombophilia in the global population [41,[79][80][81][82]. Overall, the negative association results indicate that there is no risk of the studied SNPs in human diseases [83,84].…”

Section: Discussionsupporting

confidence: 88%

“…Thrombophilia is commonly connected with venous thromboembolism and is considered a multifactorial disease affected by environmental and inherited risk factors, i.e., genetic variants in the FVL, PT and MTHFR genes [41]. The hematological changes associated with enhanced blood coagulability and inclination in the direction of vascular thrombosis are triggered by inherited thrombophilia [42].…”

Section: Introductionmentioning

confidence: 99%

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Molecular Screening of the Thrombophilic Variants Performed at G-141 Laboratory among Saudi Infertile Women

Alageel,

Alhaizan,

Neyazi

et al. 2023

Applied Sciences

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Infertility is a major issue at present and is a common disease that exists in both male and female reproductive systems, described as failure to attain pregnancy. The most important physiological phenomenon for establishing clinical pharmacy is defined as female infertility (FI). Obesity enhances the risks for many chronic disorders, especially causing a high risk for women’s reproductive health. The relationship between infertile women and thrombophilia is characterized by abnormal blood coagulation. Among the thrombophilic variants, Factor V Leiden (FVL), prothrombin (PT) and methyl tetrahydrofolate reductase (MTHFR) in genes such as G1691A (rs6020), G20210A (rs1799963) and C677T (rs1801133) are commonly studied in the majority of human diseases. In this case–control study, we investigated the role of thrombophilic variants such as G1691A, G20210A and C677T in the FVL, PII and MTHFR genes in Saudi infertile women. Based on sample size calculation, 100 female infertile and 100 control (fertile) women were selected based on inclusion and exclusion criteria. Genotyping was performed with polymerase chain reaction and followed with precise restriction enzymes, which can accurately detect the nucleotide amendment variants in G1691A, G20210A and C677T. The required statistics were applied between the case (infertile) and control (fertile) women to document the role of the G1691A, G20210A and C677T variants in Saudi infertile women. In this study, age, weight and BMI were found to be high in the control women in comparison to the infertile women. None of the genotypes, genetic models or allele frequencies were associated with G1691A, G20210A or C677T SNPs (p > 0.05). Furthermore, the regression model and ANOVA analysis also showed negative statistical associations. The combination of genotypes and allele frequencies among G1691A, G20210A and C677T SNPs showed positive associations in the recessive model (p = 0.0006). Finally, the GMDR model showed moderate associations with the gene–gene interaction, dendrogram and depletion models. Finally, this study confirmed that thrombophilic SNPs have no role and may not be involved in Saudi infertile women.

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Section: Discussionsupporting

confidence: 88%

Section: Introductionmentioning

confidence: 99%

Molecular Screening of the Thrombophilic Variants Performed at G-141 Laboratory among Saudi Infertile Women

Alageel,

Alhaizan,

Neyazi

et al. 2023

Applied Sciences

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“…FVL mutation frequency varies between different geographical regions and ethnicity. The healthy population frequency of FVL is 2%–15%, 7.5%, 12.1%, and 8.4% in Caucasians, Greece, Cyprus, and Turkey, respectively 17–19 . The healthy population frequency of FII is 4.5% and 1.2% in Greece and Turkey, respectively.…”

Section: Discussionmentioning

confidence: 96%

“…Turkey, respectively. [17][18][19] The healthy population frequency of FII is 4.5% and 1.2% in Greece and Turkey, respectively. Recent metaanalysis study in Turkey, the frequency of FVL is 7.9% in the healthy population and 22.8% in VTE patients.…”

Section: Detailed Clinical Information Of 372 Patients In the Covid-19mentioning

confidence: 99%

Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia

Kiraz

Sezer

Alemdar

et al. 2023

Journal of Medical Virology

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Thrombotic and microangiopathic effects have been reported in COVID‐19 patients. This study examined the contribution of the hereditary thrombophilia factors Prothrombin (FII) and Factor V Leiden (FVL) genotypes to the severity of COVID‐19 disease and the development of thrombosis. This study investigated FII and FVL alleles in a cohort of 9508 patients (2606 male and 6902 female) with thrombophilia. It was observed that 930 of these patients had been infected by SARS‐CoV‐2 causing COVID‐19. The demographic characteristics of the patients and their COVID‐19 medical history were recorded. Detailed clinical manifestations were analyzed in a group of cases (n = 4092). This subgroup was age and gender‐matched. FII and FVL frequency data of healthy populations without thrombophilia risk were obtained from Bursa Uludag University Medical Genetic Department's Exome Databank. The ratio of males (31.08%; 27.01%) and the mean age (36.85 ± 15.20; 33.89 ± 14.14) were higher among COVID‐19 patients compared to non‐COVID‐19 patients. The prevalence of FVL and computerized tomography (CT) positivity in COVID‐19 patients was statistically significant in the thrombotic subgroup (p < 0.05). FVL prevalence, CT positivity rate, history of thrombosis, and pulmonary thromboembolism complication were found to be higher in deceased COVID‐19 patients (p < 0.05). Disease severity was mainly affected by FVL and not related to genotypes at the Prothrombin mutations. Overall, disease severity and development of thrombosis in COVID‐19 are mainly affected by the variation within the FVL gene. Possible FVL mutation should be investigated in COVID‐19 patients and appropriate treatment should be started earlier in FVL‐positive patients.

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“…However, other studies have found that FVL-carrying males (rs6025) have 3.5-fold more fecundity than non-carriers (Van Mens et al, 2017), and that the overall rate of successful embryo transfers was higher in FVL carriers (Göpel et al, 2001), but the mechanism behind the association remains elusive. It is worth mentioning that the prevalence of the FVL mutation varies by ethnicity, with the highest rates being seen in European populations (2%-8%) (Raptopoulou et al, 2022). The highest frequency of the FVL G1691A mutation was reported in Mediterranean countries, with a prevalence of up to 15% in some populations (Bauduer & Lacombe, 2005).…”

Section: Discussionmentioning

confidence: 99%

Paternal thrombophilia and recurrent implantation failure: an exploratory case-control study

Esmaeilzadeh,

Jazayeri,

Aghajani

et al. 2024

JBRA

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Objective: Many pieces of literature have reported that inherited and acquired thrombophilia might be a risk factor for recurrent implantation failure (RIF), however, most studies have only focused on RIF patients and not their male partners. We studied the possible association of paternal thrombophilia with RIF risk.Methods: Forty-two male partners aged 20-45 suffered from RIF compared with 42 males from couples with at least one successful pregnancy. All participants were investigated for thrombophilia markers.Results: The prevalence of coagulation Factor V activity was significantly higher in the case group (42.9%) than in the control group (16.7%) (p=0.008) (OR=3.75; 95% CI, 1.38, 10.12). The prevalence of protein C and protein S deficiencies in RIF patients were 4.8% and 2.4%, respectively, and 0% in the controls. The prevalence of antithrombin III (ATIII) deficiency was significantly higher in the case group (19%) than in the control group (2.4%) (p=0.01). None of MTHFR C677T and MTHFR A1298C were statistically significant between the two groups. Combined thrombophilia was 45.2% in the men of the RIF group when compared with the control, 14.2% (p=0.001) (OR = 4.95; 95% CI, 1. 75-13.86).Conclusions: Paternal thrombophilia may be related to recurrent implantation failure, so evaluation of this factor in RIF patients could be used to identify relevant risk groups and may help in the proper management of these cases to enhance the chance of implantation.

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Large‐scale screening for factor V Leiden (G1691A), prothrombin (G20210A), and MTHFR (C677T) mutations in Greek population

Cited by 5 publications

References 25 publications

Molecular Screening of the Thrombophilic Variants Performed at G-141 Laboratory among Saudi Infertile Women

Molecular Screening of the Thrombophilic Variants Performed at G-141 Laboratory among Saudi Infertile Women

Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia

Paternal thrombophilia and recurrent implantation failure: an exploratory case-control study

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