{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T13:12:49Z","timestamp":1787317969929,"version":"build-2736575974"},"reference-count":20,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,6,5]],"date-time":"2025-06-05T00:00:00Z","timestamp":1749081600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,6,5]],"date-time":"2025-06-05T00:00:00Z","timestamp":1749081600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["R01HG012657"],"award-info":[{"award-number":["R01HG012657"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["R25HG012915"],"award-info":[{"award-number":["R25HG012915"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    This study assessed the effect of\n                    <jats:italic>CFTR<\/jats:italic>\n                    pathogenic variant status, detected during prenatal carrier screening, for the incidence and clinical recognition of cystic fibrosis\u2010related phenotypes. Data were queried from the Vanderbilt University Medical Center clinical genetic database (CGdb), which includes clinically reported pathogenic variants and electronic health records (EHRs) from 2001 to 2023. Based on carrier screening results, we identified individuals heterozygous for a pathogenic\n                    <jats:italic>CFTR<\/jats:italic>\n                    variant and those who tested negative. Logistic regression tested associations between\n                    <jats:italic>CFTR<\/jats:italic>\n                    carrier status and 11 cystic fibrosis (CF)\u2010related phenotypes. A phenome\u2010wide association study (PheWAS) was performed to identify additional phenotypic associations, and manual chart review was conducted to evaluate recognition and clinical application of\n                    <jats:italic>CFTR<\/jats:italic>\n                    carrier status in patients diagnosed with pancreatitis. Among 12,082 women tested,\n                    <jats:italic>CFTR<\/jats:italic>\n                    carriers (\n                    <jats:italic>n<\/jats:italic>\n                    = 451) were at significantly higher risk of developing acute pancreatitis (\n                    <jats:italic>p<\/jats:italic>\n                    = 3.93 \u00d7 10\n                    <jats:sup>\u22126<\/jats:sup>\n                    ; OR = 4.68 [2.43\u20139.00]). No other CF\u2010related phenotypes were significantly associated in this female cohort. Manual chart review revealed that\n                    <jats:italic>CFTR<\/jats:italic>\n                    carrier screening results were not clinically correlated with pancreatitis diagnoses. In this large cohort of women tested for prenatal carrier screening,\n                    <jats:italic>CFTR<\/jats:italic>\n                    pathogenic variants relevant to pancreatitis were overlooked, despite informing etiology, management, and prognosis.\n                  <\/jats:p>","DOI":"10.1111\/cge.14780","type":"journal-article","created":{"date-parts":[[2025,6,5]],"date-time":"2025-06-05T03:43:44Z","timestamp":1749095024000},"page":"726-730","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Beyond Carrier Status:\n                    <scp>\n                      <i>CFTR<\/i>\n                    <\/scp>\n                    Heterozygosity as an Overlooked Clinical Risk Factor for Pancreatitis"],"prefix":"10.1111","volume":"108","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7053-6500","authenticated-orcid":false,"given":"Lucas D.","family":"Richter","sequence":"first","affiliation":[{"name":"Division of Genetic Medicine, Department of Medicine Vanderbilt University Medical Center  Nashville Tennessee USA"},{"name":"Vanderbilt Genetics Institute Vanderbilt University Medical Center  Nashville Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas M.","family":"Ruderfer","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine, Department of Medicine Vanderbilt University Medical Center  Nashville Tennessee USA"},{"name":"Vanderbilt Genetics Institute Vanderbilt University Medical Center  Nashville Tennessee USA"},{"name":"Department of Biomedical Informatics Vanderbilt University Medical Center  Nashville Tennessee USA"},{"name":"Department of Psychiatry &amp; Behavioral Sciences Vanderbilt University Medical Center  Nashville Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josh F.","family":"Peterson","sequence":"additional","affiliation":[{"name":"Department of Biomedical Informatics Vanderbilt University Medical Center  Nashville Tennessee USA"},{"name":"Division of General Internal Medicine, Department of Medicine Vanderbilt University Medical Center  Nashville Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa A.","family":"Bastarache","sequence":"additional","affiliation":[{"name":"Department of Biomedical Informatics Vanderbilt University Medical Center  Nashville Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,6,5]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-med-042120-020148"},{"key":"e_1_2_10_3_1","first-page":"714","article-title":"Absence of Detrimental Effect of the Carrier State for the Cystic Fibrosis Gene","volume":"92","author":"Hallett W. Y.","year":"1965","journal-title":"American Review of Respiratory Disease"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1089\/10906570152742317"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/ofid\/ofy219"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1914912117"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0073522"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2016.06.001"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0822-5"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31818e55a2"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2025.03.009"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt1113"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2022.07.015"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btad655"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.188"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gie.2005.06.053"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/gut.2005.074534"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/112_2015_5002"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1709847"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1080\/17474124.2022.2084072"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.33431"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14780","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.14780","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14780","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T11:25:30Z","timestamp":1777721130000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14780"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,5]]},"references-count":20,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10.1111\/cge.14780"],"URL":"https:\/\/doi.org\/10.1111\/cge.14780","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14780\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14780\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14780\/v2\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14780\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14780\/v1\/review3","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14780\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14780\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14780\/v2\/review1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,5]]},"assertion":[{"value":"2025-01-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-05","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}