Genome-Wide association study (GWAS) identified PCOS susceptibility variants and replicates reported risk variants

Abstract

Abstract Background: Genetic predisposition and environmental factors are considered as risk factors for polycystic ovary syndrome (PCOS). Genome-wide association studies (GWAS) have been reported from various subpopulations to evaluate SNPs associated with PCOS risk. As no PCOS associated GWAS study has been reported from India. Purpose: Present study was conducted to identify the PCOS-susceptible loci among the North Indian population and validation of significant loci reported by previous GWAS studies. Methods: A total of 272 age-matched participants with 134 PCOS patients and 138 healthy controls were recruited. Genomic DNA was isolated and genotyped by using Infinium Global Screening Array v3.0 microchip considering HWE 10e-5 statistically significant. Results: A total of fifteen markers have been identified as candidate PCOS risk factors. Only two SNPs, namely rs17186366 and rs11171739 have been identified through replication analysis while comparing the previously reported PCOS GWAS data. In-silico analysis was performed to study the functional impact of identified gene variants in terms of gene ontology, pathways related to gene set, and cluster analysis to determine protein-protein interaction among genes or gene products. Conclusion: Study suggests that multiple variants play an important role in PCOS pathogenesis and emphasize the importance of further genetic studies among Indian subpopulations.