{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T14:48:26Z","timestamp":1785422906238,"version":"3.56.0"},"reference-count":44,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2024,8,28]],"date-time":"2024-08-28T00:00:00Z","timestamp":1724803200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Health &amp; Welfare","award":["HR22C1605"],"award-info":[{"award-number":["HR22C1605"]}]},{"name":"Ministry of Health &amp; Welfare","award":["2022R1F1A1064169"],"award-info":[{"award-number":["2022R1F1A1064169"]}]},{"name":"Ministry of Health &amp; Welfare","award":["2022R1F1A1074986"],"award-info":[{"award-number":["2022R1F1A1074986"]}]},{"DOI":"10.13039\/501100003725","name":"the Korean Government","doi-asserted-by":"publisher","award":["HR22C1605"],"award-info":[{"award-number":["HR22C1605"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"the Korean Government","doi-asserted-by":"publisher","award":["2022R1F1A1064169"],"award-info":[{"award-number":["2022R1F1A1064169"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"the Korean Government","doi-asserted-by":"publisher","award":["2022R1F1A1074986"],"award-info":[{"award-number":["2022R1F1A1074986"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Primary ovarian insufficiency (POI) can lead to menstrual disturbance, resulting in ovarian dysfunction before age 40. Prevalence of POI is usually less than 1%; however, ethnicity or population characteristics may affect prevalence. POI is a heterogeneous disease that results from abnormalities in immunological and hormonal factors. Genetic factors can also contribute to POI. Here, we examine FSHR, ESR1, and BMP15 polymorphisms in patients with POI, and controls. We examined a hormonal gene that is important for pregnancy, follicle-stimulating hormone receptor (FSHR), as well as estrogen receptor 1 (ESR1), and associated it with FSHR expression, ovulation rate, and bone morphogenetic protein 15 (BMP15). We examined 139 Korean patients under age 40 with POI, and 350 Korean control participants without POI. Genotyping was performed by a polymerase chain reaction\u2013restriction fragment length polymorphism (PCR\u2013RFLP) and TaqMan assays. Each identified genotype was subjected to statistical analysis to determine the odds ratios (ORs) and 95% confidence intervals (CIs). In combination genotype analyses, FSHR rs6165 A &gt; G combined with ESR1 rs9340799 A &gt; G, AG\/GG (OR: 5.693; 95% CI: 1.088\u201329.792), as well as FSHR rs6166 A &gt; G combined with ESR1 rs9340799 C &gt; T, AG\/GG (OR: 5.940; 95% CI: 1.134\u201331.131), were significantly associated with POI prevalence. Furthermore, an FSHR rs6165 A &gt; G and BMP rs17003221 C &gt; T, AG\/CC combination was associated with POI prevalence (OR: 1.874; 95% CI: (1.059\u20133.316; p-value: 0.031)). In meta-analysis, FSHR rs6165 AA vs. AG + GG is associated with POI (p = 0.0013), and ESR1 rs2234693 AA vs. AG + GG is also associated with POI (p = 0.0101). Here, we compared the genotypes of FSHR, ESR1, and BMP15 in patients with POI, and controls. We found significant differences in genotype combinations between polymorphisms in FSHR and other genes. Through meta-analysis, we found that ESR1 rs9340799 and rs2234693 are associated with POI prevalence, and that BMP15 rs17003221 increases POI risk. These findings help to improve POI diagnosis in Korean women.<\/jats:p>","DOI":"10.3390\/diagnostics14171889","type":"journal-article","created":{"date-parts":[[2024,8,28]],"date-time":"2024-08-28T07:52:08Z","timestamp":1724831528000},"page":"1889","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Association of Polymorphisms in FSHR, ESR1, and BMP15 with Primary Ovarian Insufficiency and Meta-Analysis"],"prefix":"10.3390","volume":"14","author":[{"given":"Jeong Yong","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young Ran","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Fertility Center of CHA Bundang Medical Center, CHA University, Seongnam 13496, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eun Ju","family":"Ko","sequence":"additional","affiliation":[{"name":"Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chang Soo","family":"Ryu","sequence":"additional","affiliation":[{"name":"Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7784-512X","authenticated-orcid":false,"given":"KyuBum","family":"Kwack","sequence":"additional","affiliation":[{"name":"Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8243-5512","authenticated-orcid":false,"given":"Eun Duc","family":"Na","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Fertility Center of CHA Bundang Medical Center, CHA University, Seongnam 13496, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1344-9491","authenticated-orcid":false,"given":"Ji Eun","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Fertility Center of CHA Bundang Medical Center, CHA University, Seongnam 13496, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9864-9777","authenticated-orcid":false,"given":"Ji Hyang","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Fertility Center of CHA Bundang Medical Center, CHA University, Seongnam 13496, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eun Hee","family":"Ahn","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Fertility Center of CHA Bundang Medical Center, CHA University, Seongnam 13496, Republic of 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":"Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"The ESHRE Guideline Group on POI, Webber, L., Davies, M., Anderson, R., Bartlett, J., Braat, D., Cartwright, B., Cifkova, R., de Muinck Keizer-Schrama, S., and Hogervorst, E. 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