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Detection of Polymorphisms in MTHFD1 G1958A and Its Possible Association with Idiopathic Male Infertility

Amir Afshin Khaki1, Asghar Tanoomand2, Abolfazl Hajibemani3

  • 1Department of Anatomical Sciences, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran. dr.aaKhaki@yahoo.com.

Urology Journal
|March 19, 2019
PubMed
Abstract

Insights

The MTHFD1 G1958A gene polymorphism is linked to idiopathic male infertility in the Iranian population. This genetic variation may contribute to the causes of male infertility.

Area of Science:

  • Genetics
  • Reproductive Medicine
  • Molecular Biology

Background:

  • Male infertility is a significant factor in overall infertility.
  • Spermatogenesis, crucial for male fertility, is a complex process regulated by various genes.
  • Methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) plays a role in nucleotide and amino acid synthesis.

Purpose of the Study:

  • To investigate the association between the MTHFD1 G1958A polymorphism and idiopathic male infertility.
  • To analyze the prevalence of this polymorphism in the Iranian population.

Main Methods:

  • A case-control study involving 200 Iranian men (100 infertile, 100 fertile controls).
  • Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique used to genotype the MTHFD1 G1958A polymorphism.
  • Chi-square test and SPSS software employed for statistical analysis.

Main Results:

  • The frequency of the A allele was 51% and the AA homozygous genotype was 47.3% overall.
  • Higher frequencies of the A allele (52.5%) and AA genotype (30%) were observed in the infertile group compared to controls (42% and 21%, respectively).
  • A statistically significant correlation was found between the A allele (OR=1.526, p=0.035) and AA genotype (OR=2.114, p=0.05) with male infertility.

Conclusions:

  • The MTHFD1 G1958A polymorphism is significantly associated with idiopathic male infertility in the studied Iranian population.
  • This genetic polymorphism may be a contributing factor to the etiology of male infertility.

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