Unveiling the Genetic Contribution to Male Infertility: FSHR, and LHCGR Polymorphisms

Abstract

Introduction: Male infertility is a global concern affecting many couples. Understanding genetic factors in male infertility offers valuable insights into its causes and guides treatment strategies.

Objectives: Identify nucleotide polymorphisms linked to male infertility, focusing on (-29G>A) and 680A>G variants in the FSHR gene, and the 312G>A variant in the LHCGR gene.

Methods: We enrolled 243 male infertility patients from Visakhapatnam district, Andhra Pradesh, India. Participants, aged 25 to 50, had tried to conceive for at least a year without success. Semen samples were analyzed for physical traits and DNA fragmentation using the Sperm Chromatin Dispersion (SCD) assay. Single Nucleotide Polymorphisms (SNPs) related to infertility were analyzed using ARMS-PCR. Statistical analysis used SPSS, Epi Info, and MDR software.

Results: Analysis showed high levels of sperm DNA fragmentation, with 65% of participants exhibiting significant DNA damage. ARMS-PCR identified SNPs associated with male infertility, including FSHR (-29G>A), FSHR (680A>G), and LHCGR (312 G>A). Genotype frequencies varied significantly, with Chi-square tests indicating associations between certain genotypes and infertility risk. Odds ratios suggested increased infertility likelihood with specific SNP variants. MDR analysis revealed complex gene-gene interactions contributing 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 FSHR (-29G>A polymorphism, suggesting the importance of genetic factors in male infertility and potential targets for diagnostic and therapeutic interventions.