Identifying therapeutic targets for primary ovarian insufficiency through integrated genomic analyses.

ABSTRACT:

Background

Primary ovarian insufficiency (POI) is a disorder characterized by the premature decline in ovarian function, leading to significant fertility and health impacts on women under 40. The unclear etiology of POI hinders the development of effective treatments, highlighting the need for novel therapeutic targets.

Methods

This study employed genome-wide association analysis (GWAS) integrated with expression quantitative trait loci (eQTL) data from the GTEx and eQTLGen databases. Mendelian randomization (MR) and colocalization analyses were conducted to investigate causal relationships between genetic variants and POI and to identify potential therapeutic targets.

Results

We identified 431 genes with available index cis-eQTL signals, of which four (HM13, FANCE, R

SUBMITTER: Du H 

PROVIDER: S-EPMC11446024 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature