Association of GWAS identified INSR variants (rs2059807 & rs1799817) with polycystic ovarian syndrome in Indian women

Abstract Polycystic ovary syndrome (PCOS), a gynaecological endocrine disorder affects 9% of Indian women and is linked to type II diabetes. The association of INSR (INSulin Receptor gene) variants (rs2059807 and rs1799817) with PCOS was established through genome-wide association studies, yet requires validation for the Indian population. This case-control study included 253 PCOS women and 308 age-matched control. The minor allele frequency of rs2059807 had an odds ratio of 13.5 and that of rs1799817 was 11.8. The cohort with rs2059807 MAF presented elevated levels of luteinising hormone [PCOS vs Control: 6.32 ± 2.26 mIU/mL vs 4.97 ± 3.27 mIU/mL], estradiol [116.01 ± 60.63 pg/mL vs 65.04 ± 44.98 pg/mL], and decreased HDL – C [50.4 ± 11.59 mg/dL vs 64 ± 15.49 mg/dL] showing disturbances in the hormonal patterns. The rs1799817 polymorphism cohort had elevated levels of serum insulin [17.99 ± 11.6 mIU/mL vs 11.67 ± 6.63 mIU/mL], blood glucose [199.15 ± 63.72 mg/dL vs 96.6 ± 24.3 mg/dL], and testosterone [0.91 ± 0.2 nmol/L vs 0.53 ± 0.16 nmol/L] thereby triggering metabolic dysfunction and predisposed to lifestyle disorder. Also, the SNPs were found to be in linkage equilibrium and contributed to the development of PCOS differentially.