Exome-based genome-wide screening of rare variants associated with the risk of polycystic ovary syndrome.

ABSTRACT:

Purpose

Genetic factors associated with the risk of polycystic ovary syndrome (PCOS) remain largely unknown. Here, we conducted an optimal sequence kernel association test (SKAT-O), an exome-based rare variant association study, to clarify whether rare variants in specific genes contribute to the development of PCOS.

Methods

SKAT-O was performed using exome data of 44 Japanese patients with PCOS and 301 control women. We analyzed frequencies of rare probably damaging variants in the genome.

Results

Rare variants of GSTO2 were more commonly identified in the patient group than in the control group (6/44 vs. 1/301; Bonferroni-corrected p-value, 0.028), while the frequencies of variants in other genes were comparable between the two groups. The identified <

SUBMITTER: Tamaoka S 

PROVIDER: S-EPMC9947624 | biostudies-literature | 2023 Jan-Dec

REPOSITORIES: biostudies-literature