{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T03:52:28Z","timestamp":1780372348035,"version":"3.54.1"},"reference-count":56,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2020,10,26]],"date-time":"2020-10-26T00:00:00Z","timestamp":1603670400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Korea Ministry of Environment","award":["2016001360008"],"award-info":[{"award-number":["2016001360008"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>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 &gt; Gly) in the APBA3 gene, was identified with OR values for association with POF of 13.33 and 4.628 in the discovery and replication sets, respectively. No rs55941146 minor allele homozygotes were present in either cases or controls. The APBA3 protein binds FIH-1 that inhibits hypoxia inducible factor-1\u03b1 (HIF-1\u03b1). HIF-1\u03b1 contributes to granulosa cell proliferation, which is crucial for ovarian follicle growth, by regulating cell proliferation factors and follicle stimulating hormone-mediated autophagy. Our data demonstrate that APBA3 is a candidate novel causal gene for POF.<\/jats:p>","DOI":"10.3390\/jpm10040193","type":"journal-article","created":{"date-parts":[[2020,10,26]],"date-time":"2020-10-26T10:38:35Z","timestamp":1603708715000},"page":"193","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Association of an APBA3 Missense Variant with Risk of Premature Ovarian Failure in the Korean Female Population"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2849-4594","authenticated-orcid":false,"given":"JeongMan","family":"Park","sequence":"first","affiliation":[{"name":"Institute Department of Biomedical Science, College of Life Science, CHA University, Seongnam, Gyeonggi-do 13488, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"YoungJoon","family":"Park","sequence":"additional","affiliation":[{"name":"Institute Department of Biomedical Science, College of Life Science, CHA University, Seongnam, Gyeonggi-do 13488, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6896-9748","authenticated-orcid":false,"given":"Insong","family":"Koh","sequence":"additional","affiliation":[{"name":"Department of Biomedical Informatics, Hanyang University, Seoul 04763, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0541-3528","authenticated-orcid":false,"given":"Nam Keun","family":"Kim","sequence":"additional","affiliation":[{"name":"Institute Department of Biomedical Science, College of Life Science, CHA University, Seongnam, Gyeonggi-do 13488, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7662-7190","authenticated-orcid":false,"given":"Kwang-Hyun","family":"Baek","sequence":"additional","affiliation":[{"name":"Institute Department of Biomedical Science, College of Life Science, CHA University, Seongnam, Gyeonggi-do 13488, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo-Seong","family":"Yun","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seongnam, Gyeonggi-do 13497, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyung Ju","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Korea University Medical Center, Seoul 02841, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jae Yun","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Preventive Medicine, College of Medicine, Korea University, Seoul 02841, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eunil","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Preventive Medicine, College of Medicine, Korea University, Seoul 02841, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"KyuBum","family":"Kwack","sequence":"additional","affiliation":[{"name":"Institute Department of Biomedical Science, College of Life Science, CHA University, Seongnam, Gyeonggi-do 13488, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,10,26]]},"reference":[{"key":"ref_1","first-page":"604","article-title":"Incidence of premature ovarian failure","volume":"67","author":"Coulam","year":"1986","journal-title":"Obstet. 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