Genome-wide association study (GWAS) identified PCOS susceptibility variants and replicates reported risk variants.
Priya SharmaSabyasachi SenapatiLajya Devi GoyalBalpreet KaurPooja KamraPreeti KhetarpalPublished in: Archives of gynecology and obstetrics (2024)
The study suggests that multiple variants play an important role in PCOS pathogenesis and emphasizes the importance of further genetic studies among Indian subpopulations. The study also validates two previously reported SNPs in the Indian population. What this study adds to clinical work Study summarizes the importance of candidate gene markers validated by replication and in-silico functional study, significantly involved in PCOS pathogenesis in the studied population. These markers can be used in the future as diagnostic markers for clinical phenotype identification.