Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation.

ABSTRACT:

Objective

To identify modifying genes that explains the risk of fragile X-associated primary ovarian insufficiency (FXPOI).

Design

Gene-based, case/control association study, followed by a functional screen of highly ranked genes using a Drosophila model.

Setting

Participants were recruited from academic and clinical settings.

Patient(s)

Women with a premutation (PM) who experienced FXPOI at the age of 35 years or younger (n = 63) and women with a PM who experienced menopause at the age of 50 years or older (n = 51) provided clinical information and a deoxyribonucleic acid sample for whole genome sequencing. The functional screen was on the basis of Drosophila TRiP lines.

Intervention(s)

Clinical information and a DNA sample were collected for whole geno

SUBMITTER: Trevino CE 

PROVIDER: S-EPMC8494118 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature