Transcriptome-wide association study identified candidate genes associated with polycystic ovary syndrome

Abstract

Polycystic ovary syndrome (PCOS) is one of the most common metabolism and endocrine disorder affecting women of reproductive age. However, the genetic mechanisms of PCOS remain largely elusive. A transcriptome-wide association study(TWAS) was conducted to identify the genes associated with PCOS using gene expression references of the whole blood and ovary. Then mRNA expression profiling analysis was performed to identify common genes with TWAS. Genes detected by TWAS were subjected to Gene Ontology(GO), pathway enrichment and protein-protein analysis. TWAS identified 422 genes for the whole blood and 177 genes for ovary, such as EML6 (TWAS.P = 6.33E-05), GRAP (TWAS.P = 0.000211), MAFTRR(TWAS.P = 1.21E-05). Functional enrichment analysis detected biological processes including ncRNA metabolic process, microtubule-related pathways. The present study identified a number of potential PCOS genes and biological processes. These results may provide insight into the genetic basis of PCOS.