The association of rs7041 polymorphism with infertility and recurrent pregnancy loss in Iranian women with polycystic ovary syndrome

Abstract

Abstract Background Polycystic ovarian syndrome (PCOS) stands as the most prevalent endocrine disorder among women of reproductive age. Vitamin D binding protein (VDBP) is a polymorphic protein with a crucial role in vitamin D metabolism. This study aimed to examine the association of rs7041 polymorphism with PCOS, as well as infertility and recurrent pregnancy loss (RPL) in PCOS patients. Methods A total of 200 women diagnosed with PCOS, including 100 infertile and 100 with a history of recurrent pregnancy loss, and 100 fertile women were enrolled in this study. Blood samples were taken from these individuals, and their biochemical and hormonal profiles were assessed. Genotyping for the rs7041 polymorphism was carried out in the study population using the PCR-RFLP method. Results Genotype analysis showed that the GT genotype and the T allele of the rs7041 polymorphism were associated with an elevated risk of PCOS (OR: 2.8 95% CI [1.48–5.33], p = 0.002, and OR: 2.27 95% CI [1.2–4.28], p = 0.01, respectively). Furthermore, the GT genotype and T allele of the rs7041 polymorphism were associated with an increased risk of infertility in PCOS women (OR: 40.55 95% CI [5.34–307.7], p < 0.0001, and OR: 30.667 95% CI [4.05-232.19], p = 0.001, respectively). Conversely, no significant association was observed between genotypes and RPL in women with PCOS. LH levels were significantly higher in individuals with the T allele compared to those with the G allele. Conclusion The study results highlight a significant correlation between the rs7041 polymorphism in the VDBP gene and the risk of PCOS and infertility.