Genetic Insights into Male Infertility: Role of MTHFR 1298 and 677 Variants

Abstract

Introduction: Male infertility, often characterized by abnormalities in sperm quantity, motility, or morphology, presents a significant challenge in reproductive health. Understanding its causes and mechanisms is crucial for developing effective treatments.

Objectives: To identify nucleotide polymorphisms associated with male infertility, focusing on variants 1298 A>C and 677C>T in the MTHFR gene.

Methods: We enrolled 243 male infertility patients from Visakhapatnam district, Andhra Pradesh, India. Participants aged 25 to 50 had tried unsuccessfully to become pregnant for at least a year. Semen samples were analyzed for physical characteristics and DNA fragmentation using the Sperm Chromatin Dispersion (SCD) assay. Single nucleotide polymorphisms (SNPs) associated with infertility were analyzed using ARMS-PCR. SPSS, Epi Info and MDR software were used for statistical analysis.

Results: The analysis showed high levels of sperm DNA fragmentation, with 65% of participants showing significant DNA damage. ARMS-PCR identified MTHFR variants associated with male infertility. Genotype frequencies varied significantly, with chi-square tests indicating associations between specific genotypes and infertility risk. The odds ratios indicate an increased probability of infertility with certain SNP variants. MDR analysis revealed complex gene-gene interactions that contribute to infertility.

Conclusions: Our study highlights sperm DNA damage prevalence and significant genetic variants associated with male infertility in Andhra Pradesh, India. Significant associations were found with MTHFR 1298A>C polymorphism, suggesting the importance of genetic factors in male infertility and potential targets for diagnostic and therapeutic interventions.