Oligogenic basis of premature ovarian insufficiency: an observational study.

ABSTRACT:

Background

The etiology of premature ovarian insufficiency, that is, the loss of ovarian activity before 40 years of age, is complex. Studies suggest that genetic factors are involved in 20-25% of cases. The aim of this study was to explore the oligogenic basis of premature ovarian insufficiency.

Results

Whole-exome sequencing of 93 patients with POI and whole-genome sequencing of 465 controls were performed. In the gene-burden analysis, multiple genetic variants, including those associated with DNA damage repair and meiosis, were more common in participants with premature ovarian insufficiency than in controls. The ORVAL-platform analysis confirmed the pathogenicity of the RAD52 and MSH6 combination.

Conclusions

The results of this study indicate that oligogenic inhe

SUBMITTER: Long P 

PROVIDER: S-EPMC10837925 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature