Association of Nrf2 gene polymorphism (rs6721961) with semen parameters in primary male infertility cases in Pakistani population
Keywords:Male infertility, Nuclear factor erythroid 2-related factor 2 (NRF2), Polymerase chain reaction, Single nucleotide polymorphism
Objective: To determine an association of single nucleotide polymorphism of the NRF2 gene (RS6721961) with semen parameters of primary male infertility patients in the Pakistani population.
Study Design: Comparative cross-sectional study.
Place and Duration of Study: Department of Biochemistry, Islamic International Medical College, Rawalpindi, in collaboration with two private infertility clinics (American Infertility Center, Rawalpindi and Mother and Child International Hospital and Research Institute, Mirpur, AJK) from Oct 2020 to Sep 2021.
Methodology: A total of 288 participants were included in this study. There were 144 diagnosed cases of primary male infertility and 144 healthy fertile males, age and ethnicity matched controls. Blood samples were collected from participants after obtaining written informed consent. DNA was extracted by the Chelex TM Methodoogy. Multiplex PCR was done to determine the respective allelic frequencies of NRF2 (RS6721961) genotypes using specific primers.
Results: There was no significant association between NRF2 genotypes and semen volume and semn colour in infertile males (p-value 0.32 and 0.84, respectively). Out of 144 cases, 111 (77%) had normal sperm count, 29 (20.1%) had oligospermia, while 4 (2.7%) patients had azoospermia. A significant association was observed between NRF2 genotypes and sperm concentration of infertile males (p-value <0.001). Out of 144 cases, 80 (55.5%) had normal motility, 57 (39.5%) had asthenospermia while 7 (8.4%) patients had necrospermia. A strong association was observed between NRF2 genotypes and sperm motility in infertile males (p-value <0.001).
Conclusion: Single nucleotide polymorphism (RS6721961) of the NRF2 gene is significantly associated with sperm concentration and......