A great start to 2023, with the publication of our transcriptome-wide association study of polycystic ovary syndrome

Last updated on Feb 18, 2023 1 min read

Congratulations to Sarah for leading this project!

Some key find from this work below:

Our TWAS uncovered an association between imputed ARL14EP expression and PCOS in two independent cohorts. We validated these findings by examining measured ARL14EP expression in a third PCOS cohort.
Colocalization analyses revealed tissue-specific eQTLs patterns - high evidence of colocalization was observed for the ARL14EP-testis-PCOS triplet. As hyperandrogenism is a defining feature of PCOS, future studies should investigate how testosterone modulates the effects of ALR14EP eQTLs.
We showed that PCOS-associated ARL14EP eQTLs occur in an ARL14EP divergent transcript. Antisense lncRNAs can influence the expression of their coding gene counterparts. Future stdies should investigate the link between PCOS-associated variants, ARL14EP-DT function and ARL14EP expression.
ARL14EP has been shown to play an important role in chromatin remodelling. Annotation analyses revealed that ARL14EP occurs within a region where extensive chromatin interactions are observed, including interactions with FSHB.
While none of the gene prioritization analyses prioritized FSHB as a likely causal gene, FSH levels are important in PCOS! Single cell multiomics analyses will provide improved insight into how FHSB, ARL14EP and ARL14EP-DT interact in the relevant cells in the context of PCOS.