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Background <p>Methylenetetrahydrofolate dehydrogenase (MTHFD1) and Dihydrofolate reductase (DHFR) are pivotal enzymes in the folate metabolic pathway, playing essential roles in DNA synthesis, repair, and methylation processes critical for spermatogenesis. Numerous studies have implicated genetic variations in their encoding genes in the susceptibility to diverse diseases, including reproductive disorders.</p> Objective <p>The aim of our study is to investigate the potential association between <i>MTHFD1G1958A</i>, <i>MTHFD1T401C</i>, and <i>DHFR</i>-19bp polymorphisms, sperm parameters, and the risk of idiopathic male infertility.</p> Methods <p>We conducted a case–control study involving 104 infertile men and 104 controls. Genomic DNA was extracted from blood samples using a commercially kit, and molecular analyses were carried out through direct PCR and PCR–RFLP.</p> Results <p>Statistical analysis showed significant associations of MTHFD1G1958A and <i>MTHFD1</i>T401C mutant genotypes with male infertility (<i>P</i> &lt; 0.05). The <i>MTHFD1</i>958AA polymorphism was linked to reduced sperm mobility, vitality, and normal morphology (<i>P</i> = 0.001, <i>P</i> = 0.048, <i>P</i> ≤ 0.0001, respectively). <i>MTHFD1</i>T401C was significantly associated with vital sperm (<i>P</i> = 0.009). No significant association was found for the <i>DHFR</i>-19bp polymorphism.</p> Conclusion <p>This study suggests that MTHFD1G1958A and MTHFD1T401C polymorphisms may contribute to unexplained male infertility, with the MTHFD1 1958GA linked to defects sperm parameters.</p>

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Association of MTHFD1G1958A, MTHFD1T401C, and DHFR-19bp variants with sperm criteria and unexplained male infertility: a case–control study on Algerian population

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  • 发表日期：

    2025年4月16日

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  • Nour El Houda Bousnane,
  • Abed Alkarem Abu Alhaija,
  • Housna Labed,
  • Anissa Fizazi,
  • Chahinez Amira Dahmani,
  • May Fouad Sadiq

摘要

Background

Methylenetetrahydrofolate dehydrogenase (MTHFD1) and Dihydrofolate reductase (DHFR) are pivotal enzymes in the folate metabolic pathway, playing essential roles in DNA synthesis, repair, and methylation processes critical for spermatogenesis. Numerous studies have implicated genetic variations in their encoding genes in the susceptibility to diverse diseases, including reproductive disorders.

Objective

The aim of our study is to investigate the potential association between MTHFD1G1958A, MTHFD1T401C, and DHFR-19bp polymorphisms, sperm parameters, and the risk of idiopathic male infertility.

Methods

We conducted a case–control study involving 104 infertile men and 104 controls. Genomic DNA was extracted from blood samples using a commercially kit, and molecular analyses were carried out through direct PCR and PCR–RFLP.

Results

Statistical analysis showed significant associations of MTHFD1G1958A and MTHFD1T401C mutant genotypes with male infertility (P < 0.05). The MTHFD1958AA polymorphism was linked to reduced sperm mobility, vitality, and normal morphology (P = 0.001, P = 0.048, P ≤ 0.0001, respectively). MTHFD1T401C was significantly associated with vital sperm (P = 0.009). No significant association was found for the DHFR-19bp polymorphism.

Conclusion

This study suggests that MTHFD1G1958A and MTHFD1T401C polymorphisms may contribute to unexplained male infertility, with the MTHFD1 1958GA linked to defects sperm parameters.