Single Nucleotide Polymorphisms (SNPs) and Their Role in Reproductive Health: A Genetic Analysis

Infertility is considered a disease with a high prevalence and a primary genetic factor, as single-nucleotide polymorphisms (SNPs) in metabolic and hormonal genes impair fertility. Our current study aimed to determine the impact of single-nucleotide polymorphisms (SNPs) on reproductive health in a group of 68 infertile patients (34 couples). Based on the study's methodological design, a cross-sectional study was conducted on 68 patients in different hospitals in Iraq, during a follow-up period of 12 months. Clinical data were recorded, including semen parameters, hormonal profiles, history of pregnancy loss, and genotype distributions. The study results showed a strong association between the FSHR rs6166 polymorphism and decreased ovarian reserve. It was observed that female patients who received the G allele vaccine had lower AFC levels (6.3 ± 2.1 vs. 14.5 ± 4.2), which constituted 83.3% of women with poor ovarian response, while the MTHFR rs1801133 TT genotype was associated with lower semen quality and also lower sperm concentration (15.4 ± 12.1 vs. 38.2 ± 18.5 ml/ml) in males. Furthermore, the ESR1 rs2234693 TT genotype was associated with higher baseline FSH levels (9.2 ± 2.8 vs. 6.8 ± 1.5 mIU/mL, p=0.041), which may indicate a higher frequency of F5 Leiden (rs6025) mutation carriers in women with recurrent pregnancy loss (21.4% vs. 5.0%). This study concludes that single-nucleotide polymorphisms (SNPs) in FSHR and MTHFR are strongly associated with ovarian response and sperm quality in infertile patients, and that genetic testing for these variants could provide valuable diagnostic information.