Mutations of Two Major Coagulation Factors Are Not Associated with Male Infertility

Yapijakis, Christos; Pachis, Nikos; Avgoustidis, Dimitrios; Adamopoulou, Mary; Serefoglou, Zoe

doi:10.21873/invivo.11015

Cited by 4 publications

(3 citation statements)

References 13 publications

(24 reference statements)

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“…Although there are evidences of association between some reproductive parameters with annexin A5, our study does not show any critical effect of lower levels of annexin A5 on these male fertility parameters. This finding parallels the study by Yapijakis and colleagues that reports no association between male infertility and genetic variants of two other coagulation factors: factor V Leiden and factor II G20210A [3]. Combined [3], our results contradict the proposed theory that an evolutionary advantage can be ascribed to male carriers of thrombophilia-related gene variants predisposing to pregnancy complications [2].…”

Section: Discussionsupporting

confidence: 88%

“…This hypothesis was based on the observation of increased sperm count and total number of motile sperm in men heterozygous for FVL [2]. However, Yapijakis and colleagues, while looking at the frequency of FVL in men with normal and low sperm counts, could not confirm this finding nor could they identify any association between factor II G20210A, another primary coagulation factor mutation, and male fertility [3].…”

Section: Introductionmentioning

confidence: 99%

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The relevance of ANXA5 genetic variants on male fertility

Lavorato

Markoff

Altholz

et al. 2019

J Assist Reprod Genet

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Purpose To investigate the effect of the anticoagulation factor annexin A5 on male fertility and to provide perspective on the influence of members of the coagulation cascade on fertility. Methods Patients with normozoospermia and with unexplained severe oligozoospermia were retrospectively selected and their genomic DNA sequenced for the promoter region of ANXA5. The genotypes proportions and the odds ratio for carriership of the haplotype M2 were compared between the groups and population control. The clinical data used were gathered from parameters determined during routine clinical assessment and were compared between carriers and non-carriers within the patient groups. Results The carrier rates for the haplotype M2/ANXA5 were of 25.73%, 20.81%, and 15.3% in the severe oligozoospermic, the normozoospermic, and the general population control groups, respectively. The OR between patients groups was of 1.31 (95% CI 0.88 to 1.96 p = 0.176). Oligozoospermic and normozoospermic patients compared with the control group had an OR of 1.9 (95% CI 1.33 to 2.73 p < 0.001) and 1.45 (95% CI 0.99 to 2.10 p = 0.054) respectively. The clinical parameters that differed between the carriers and non-carriers of the haplotype M2/ANXA5 were prolactin, α-glucosidase, and fructose. The differences were only statistically significant in the normozoospermic group. Conclusions Athough the infertile patient groups had a higher prevalence of promoter variants, we could not demonstrate any biologically relevant effect of lower levels of annexin A5 on most male fertility parameters. A deficiency in an anticoagulation factor does not seem to impact male fertility.

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Section: Discussionsupporting

confidence: 88%

Section: Introductionmentioning

confidence: 99%

The relevance of ANXA5 genetic variants on male fertility

Lavorato

Markoff

Altholz

et al. 2019

J Assist Reprod Genet

View full text Add to dashboard Cite

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“…Likewise, in 157 couples with unexplained infertility selected from five IVF centers, the incidence of carrier status for ANXA5 haplotype M2 was 44% of couples (one or both partners) (24% of women, and 26% of men) (Fishel et al, 2014). However, another study did not show any significant differences in factor V Leiden (FVL: G16916A) and prothrombin (factor II: G20210A) genotypes between infertile azoospermia or oligozoospermia men and normal controls (Yapijakis et al, 2016).…”

Section: Introductionmentioning

confidence: 94%

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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Neurofibromatosis-Noonan Syndrome: A Possible Paradigm of the Combination of Genetic and Epigenetic Factors

Yapijakis

Pachis²,

Voumvourakis

2017

Advances in Experimental Medicine and Biology

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Neurofibromatosis-Noonan syndrome (NFNS) is a clinical entity possessing traits of autosomal dominant disorders neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). Germline mutations that disrupt the RAS/MAPK pathway are involved in the pathogenesis of both NS and NF1. In light of a studied Greek family, a new theory for etiological pathogenesis of NFNS is suggested. The NFNS phenotype may be the final result of a combination of a genetic factor (a mutation in the NF1 gene) and an environmental factor with the epigenetic effects of muscle hypotonia (such as hydantoin in the reported Greek family), causing hypoplasia of the face and micrognathia.

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Mutations of Two Major Coagulation Factors Are Not Associated with Male Infertility

Cited by 4 publications

References 13 publications

The relevance of ANXA5 genetic variants on male fertility

The relevance of ANXA5 genetic variants on male fertility

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

Neurofibromatosis-Noonan Syndrome: A Possible Paradigm of the Combination of Genetic and Epigenetic Factors

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