{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T15:32:54Z","timestamp":1784129574254,"version":"3.55.0"},"reference-count":32,"publisher":"The Endocrine Society","issue":"1","license":[{"start":{"date-parts":[[2024,12,16]],"date-time":"2024-12-16T00:00:00Z","timestamp":1734307200000},"content-version":"vor","delay-in-days":20,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,11,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Polycystic ovary syndrome (PCOS) affects 10% of women of reproductive age. The genetic architecture of the disease is emerging, but there is little data exploring the effect of genetic risk on clinical presentation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>We hypothesized that genetic risk loci would influence measurable phenotypic traits.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>This retrospective cohort study, conducted at an academic medical center, included women of European ancestry with PCOS (n = 404), as diagnosed by the National Institutes of Health criteria, and controls with regular menses and no hyperandrogenism (n = 408). We identified association between genetic risk variants and measured phenotypic traits using linear regression.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>In a combined analysis of cases and controls, 2 variants in loci containing the genes PRSS23 (P &amp;lt; .001) and FSHB (P &amp;lt; .001) were associated with gonadotropin levels. Two variants in loci containing NEIL2\/GATA4 (P = .002) and CYP3 (P &amp;lt; .001) were associated with androgen levels. Three variants in loci containing SHBG (P = .001), ZBTB16 (P &amp;lt; .001), and CYP3 (P &amp;lt; .001) were associated with ovarian morphology. One variant in the locus containing FTO (P = .001) was associated with hip circumference and was influenced by body mass index.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>These results demonstrate that PCOS genetic risk variants may influence hormone levels and ovarian morphology and increase the risk of obesity. Increased genetic risk for PCOS appears to drive traits that underly the classical clinical presentation of PCOS.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/jendso\/bvae219","type":"journal-article","created":{"date-parts":[[2024,12,16]],"date-time":"2024-12-16T01:23:31Z","timestamp":1734312211000},"source":"Crossref","is-referenced-by-count":5,"title":["Phenotypes Associated With Polycystic Ovary Syndrome Risk Variants"],"prefix":"10.1210","volume":"9","author":[{"given":"Anna","family":"Tidwell","sequence":"first","affiliation":[{"name":"Division of Endocrinology, Metabolism and Diabetes, University of Utah School of Medicine , Salt Lake City, UT 84112 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8782-1818","authenticated-orcid":false,"given":"Jia","family":"Zhu","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Boston Children's Hospital , Boston, MA 02115 ,","place":["USA"]},{"name":"Department of Pediatrics, Harvard Medical School , Boston, MA 02115 ,","place":["USA"]},{"name":"Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard , Cambridge, MA 02142 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-8002-189X","authenticated-orcid":false,"given":"Tess","family":"Battiola","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Metabolism and Diabetes, University of Utah School of Medicine , Salt Lake City, UT 84112 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8219-5504","authenticated-orcid":false,"given":"Corrine K","family":"Welt","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Metabolism and Diabetes, University of Utah School of Medicine , Salt Lake City, UT 84112 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2024,12,16]]},"reference":[{"issue":"6","key":"2025021210545934000_bvae219-B1","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1210\/jc.2003-032046","article-title":"The prevalence and features of the polycystic ovary syndrome in an unselected population","volume":"89","author":"Azziz","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2025021210545934000_bvae219-B2","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1093\/humrep\/deh098","article-title":"Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS)","volume":"19","author":"Rotterdam ESHRE\/ASRM-Sponsored consensus workshop group","year":"2004","journal-title":"Hum Reprod"},{"issue":"1","key":"2025021210545934000_bvae219-B3","doi-asserted-by":"crossref","first-page":"141","DOI":"10.2337\/diacare.22.1.141","article-title":"Prevalence of impaired glucose tolerance and diabetes in women with polycystic ovary syndrome","volume":"22","author":"Ehrmann","year":"1999","journal-title":"Diabetes Care"},{"issue":"4","key":"2025021210545934000_bvae219-B4","doi-asserted-by":"crossref","first-page":"E43","DOI":"10.1016\/j.fertnstert.2022.08.141","article-title":"Identification of novel PCOS-risk alleles by large-scale genome wide meta-analysis provides new insights into biological mechanism and clinical health outcomes","volume":"118","author":"Moolhuijsen","year":"2022","journal-title":"Fertil Steril"},{"issue":"12","key":"2025021210545934000_bvae219-B5","doi-asserted-by":"crossref","first-page":"4842","DOI":"10.1210\/jc.2006-1327","article-title":"Characterizing discrete subsets of polycystic ovary syndrome as defined by the Rotterdam Criteria: the impact of weight on phenotype and metabolic features","volume":"91","author":"Welt","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"issue":"7","key":"2025021210545934000_bvae219-B6","first-page":"2248","article-title":"Determinants of abnormal gonadotropin secretion in clinically defined women with polycystic ovary syndrome","volume":"82","author":"Taylor","year":"1997","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2025021210545934000_bvae219-B7","doi-asserted-by":"crossref","first-page":"3934","DOI":"10.1038\/ncomms4934","article-title":"Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel","volume":"5","author":"Delaneau","year":"2014","journal-title":"Nat Commun"},{"key":"2025021210545934000_bvae219-B8","unstructured":"Welt CK . 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