Genetic association between SORBS1 rs2274490 and INSR rs12971499 polymorphisms with polycystic ovary syndrome: A case–control study

Background: Polycystic ovary syndrome (PCOS) is one of the most endocrine metabolic disorders affecting women of reproductive age. PCOS is a multifactorial disorder that results from genetic and environmental factors. Several potential genetic variants are suggested to be associated with PCOS susceptibility. Insulin signaling genes and their single nucleotide polymorphism (SNPs) have been targeted to evaluate their association with PCOS. We aimed to investigate the association between INSR rs12971499 C/T and SORBS1 rs2274490 A/G polymorphisms and PCOS in Iranian women. Materials and Methods: This case–control study included 50 PCOS participants and 50 age-matched control women in an Iranian population from Royan Research Institute in Qom, Iran, from October 2022 to November 2023. PCOS was diagnosed according to the Rotterdam criteria. Exclusion criteria included hypothyroidism, hyperprolactinemia, Cushing’s syndrome, adrenal hyperplasia, tumors androgen secreting, and ovarian tumors. The age, BMI, and serum levels of LH, FSH, LH/FSH, FBS, estradiol, prolactin, AMH, and testosterone were determined. Tetra-primer ARMS-PCR was used for SNP genotyping. Results: We found that SNP rs2274490 A/G of SORBS1 was associated with a significantly increased risk of PCOS. The allelic and genotype frequencies of SORBS1 rs2274490 A/G significantly differed between control and PCOS subjects. The dominant and recessive genetic models were shown to be significantly associated with PCOS. There was no association between SNP rs12971499 C/T of INSR and susceptibility to PCOS. Conclusion: SORBS1 rs2274490 A/G is a susceptibility locus associated with increased PCOS risk in Iranian women, but there is no association between INSR rs12971499 C/T and PCOS risk.