{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:27:40Z","timestamp":1772159260295,"version":"3.50.1"},"reference-count":23,"publisher":"MDPI AG","issue":"19","license":[{"start":{"date-parts":[[2022,10,4]],"date-time":"2022-10-04T00:00:00Z","timestamp":1664841600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001871","name":"Portuguese Foundation for Science and Technology","doi-asserted-by":"publisher","award":["PTDC\/MEC-MET\/29489\/2017"],"award-info":[{"award-number":["PTDC\/MEC-MET\/29489\/2017"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001871","name":"Portuguese Foundation for Science and Technology","doi-asserted-by":"publisher","award":["UIDB\/00709\/2020"],"award-info":[{"award-number":["UIDB\/00709\/2020"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001871","name":"Portuguese Foundation for Science and Technology","doi-asserted-by":"publisher","award":["SFRH\/BD\/147160\/2019"],"award-info":[{"award-number":["SFRH\/BD\/147160\/2019"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001871","name":"FCT","doi-asserted-by":"publisher","award":["PTDC\/MEC-MET\/29489\/2017"],"award-info":[{"award-number":["PTDC\/MEC-MET\/29489\/2017"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001871","name":"FCT","doi-asserted-by":"publisher","award":["UIDB\/00709\/2020"],"award-info":[{"award-number":["UIDB\/00709\/2020"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001871","name":"FCT","doi-asserted-by":"publisher","award":["SFRH\/BD\/147160\/2019"],"award-info":[{"award-number":["SFRH\/BD\/147160\/2019"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The majority of pituitary adenomas occur in a sporadic context, and in the absence of known genetic predisposition. Three common variants at the NEBL (rs2359536), PCDH15 (rs10763170) and CDK8 (rs17083838) loci were previously associated with sporadic pituitary adenomas in the Han Chinese population, but these findings have not yet been replicated in any other population. The aim of this case-control study was to assess if these variants are associated with susceptibility to sporadic pituitary adenomas in the Portuguese population. Genotype and allele frequencies were determined in 570 cases and in 546 controls. The CDK8 rs17083838 minor allele (A allele) was significantly associated with sporadic pituitary adenomas, under an additive (odds ratio (OR) 1.73, 95% confidence interval (CI) 1.19\u20132.50, p = 0.004) and dominant (OR 1.82, 95% CI 1.24\u20132.68, p = 0.002) inheritance model. The NEBL rs2359536 and PCDH15 rs10763170 variants were not associated with the overall risk for the disease, although a borderline significant association was observed between the PCDH15 rs10763170 minor allele (T allele) and somatotrophinomas (dominant model, OR 1.55, 95% CI 1.02\u20132.35, p = 0.035). These findings suggest that the CDK8 rs17083838 variant, and possibly the PCDH15 rs10763170 variant, may increase susceptibility to sporadic pituitary adenomas in the Portuguese population.<\/jats:p>","DOI":"10.3390\/ijms231911749","type":"journal-article","created":{"date-parts":[[2022,10,8]],"date-time":"2022-10-08T23:39:31Z","timestamp":1665272371000},"page":"11749","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A Common Variant in the CDK8 Gene Is Associated with Sporadic Pituitary Adenomas in the Portuguese Population: A Case-Control Study"],"prefix":"10.3390","volume":"23","author":[{"given":"Leonor M.","family":"Gaspar","sequence":"first","affiliation":[{"name":"CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506 Covilh\u00e3, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6659-1200","authenticated-orcid":false,"given":"Catarina I.","family":"Gon\u00e7alves","sequence":"additional","affiliation":[{"name":"CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506 Covilh\u00e3, Portugal"}]},{"given":"Fernando","family":"Fonseca","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Endocrinologia, Hospital de Curry Cabral, Centro Hospitalar Universit\u00e1rio Lisboa Central, 1050-099 Lisboa, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3156-3741","authenticated-orcid":false,"given":"Davide","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar de S\u00e3o Jo\u00e3o, Faculdade de Medicina e Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade da Universidade do Porto, 4200-319 Porto, Portugal"}]},{"given":"Lu\u00edsa","family":"Cortez","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Endocrinologia, Hospital de Curry Cabral, Centro Hospitalar Universit\u00e1rio Lisboa Central, 1050-099 Lisboa, Portugal"}]},{"given":"Ana","family":"Palha","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Endocrinologia, Hospital de Curry Cabral, Centro Hospitalar Universit\u00e1rio Lisboa Central, 1050-099 Lisboa, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8929-5762","authenticated-orcid":false,"given":"In\u00eas F.","family":"Barros","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Endocrinologia, Hospital de Braga, 4710-243 Braga, Portugal"}]},{"given":"Ema","family":"Nobre","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Endocrinologia, Diabetes e Metabolismo, Hospital de Santa Maria, Centro Hospitalar Universit\u00e1rio Lisboa Norte, 1649-028 Lisboa, Portugal"}]},{"given":"Jo\u00e3o S.","family":"Duarte","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Endocrinologia, Hospital de Egas Moniz, Centro Hospitalar Lisboa Ocidental, 1349-019 Lisboa, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4335-0425","authenticated-orcid":false,"given":"Cl\u00e1udia","family":"Amaral","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Endocrinologia, Hospital de Santo Ant\u00f3nio, Centro Hospitalar Universit\u00e1rio do Porto, 4099-001 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0357-7350","authenticated-orcid":false,"given":"Maria J.","family":"Bugalho","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Endocrinologia, Diabetes e Metabolismo, Hospital de Santa Maria, Centro Hospitalar Universit\u00e1rio Lisboa Norte, 1649-028 Lisboa, Portugal"}]},{"given":"Olinda","family":"Marques","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Endocrinologia, Hospital de Braga, 4710-243 Braga, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6128-5650","authenticated-orcid":false,"given":"Bernardo D.","family":"Pereira","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Endocrinologia e Nutri\u00e7\u00e3o, Hospital do Divino Esp\u00edrito Santo de Ponta Delgada, 9500-782 Ponta Delgada, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9326-8900","authenticated-orcid":false,"given":"Manuel C.","family":"Lemos","sequence":"additional","affiliation":[{"name":"CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506 Covilh\u00e3, Portugal"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.ecl.2020.04.002","article-title":"The Epidemiology of Pituitary Adenomas","volume":"49","author":"Daly","year":"2020","journal-title":"Endocrinol. 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