Association of an APBA3 Missense Variant with Risk of Premature Ovarian Failure in the Korean Female Population.

ABSTRACT: Premature ovarian failure (POF) is a complex disease of which the etiology is influenced by numerous genetic variations. Several POF candidate genes have been reported. However, no causal genes with high odds ratio (OR) have yet been discovered. This study included 564 females of Korean ethnicity, comprising 60 patients with POF and 182 controls in the discovery set and 105 patients with POF and 217 controls in the replication set. We conducted genome-wide association analysis to search for novel candidate genes predicted to influence POF development using Axiom Precision Medicine Research Arrays and additive model logistic regression analysis. One statistically significant single nucleotide polymorphism (SNP), rs55941146, which encodes a missense alteration (Val > Gly) in the APBA3

SUBMITTER: Park J 

PROVIDER: S-EPMC7720130 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature