Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency.

ABSTRACT:

Context

A genetic etiology likely accounts for the majority of unexplained primary ovarian insufficiency (POI).

Objective

We hypothesized that heterozygous rare variants and variants in enhanced categories are associated with POI.

Design

The study was an observational study.

Setting

Subjects were recruited at academic institutions.

Patients

Subjects from Boston (n = 98), the National Institutes of Health and Washington University (n = 98), Pittsburgh (n = 20), Italy (n = 43), and France (n = 32) were diagnosed with POI (amenorrhea with an elevated follicle-stimulating hormone level). Controls were recruited for health in old age or were from the 1000 Genomes Project (total n = 233).

Intervention

We performed whole exome sequencing (WES), and data

SUBMITTER: Gorsi B 

PROVIDER: S-EPMC9006976 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature