{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T22:02:30Z","timestamp":1790805750194,"version":"4.1.0"},"reference-count":98,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T00:00:00Z","timestamp":1779753600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000069","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","award":["K23AR084615"],"award-info":[{"award-number":["K23AR084615"]}],"id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000897","name":"Cystic Fibrosis Foundation","doi-asserted-by":"publisher","award":["WU23GE0"],"award-info":[{"award-number":["WU23GE0"]}],"id":[{"id":"10.13039\/100000897","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000897","name":"Cystic Fibrosis Foundation","doi-asserted-by":"publisher","award":["BLACKM24A0"],"award-info":[{"award-number":["BLACKM24A0"]}],"id":[{"id":"10.13039\/100000897","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000897","name":"Cystic Fibrosis Foundation","doi-asserted-by":"publisher","award":["BLACKM23G0-CFRD"],"award-info":[{"award-number":["BLACKM23G0-CFRD"]}],"id":[{"id":"10.13039\/100000897","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000897","name":"Cystic Fibrosis Foundation","doi-asserted-by":"publisher","award":["BIANCO23GE0"],"award-info":[{"award-number":["BIANCO23GE0"]}],"id":[{"id":"10.13039\/100000897","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["K23DK139457"],"award-info":[{"award-number":["K23DK139457"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["aacejournalendocrinepractice.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Endocrine Practice"],"published-print":{"date-parts":[[2026,10]]},"DOI":"10.1016\/j.eprac.2026.05.021","type":"journal-article","created":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T22:53:56Z","timestamp":1779231236000},"page":"1567-1574","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Impact of Genetics on Endocrine Manifestations of Cystic Fibrosis"],"prefix":"10.1016","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2177-4414","authenticated-orcid":false,"given":"Malinda","family":"Wu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica E.","family":"Bianco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott M.","family":"Blackman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.eprac.2026.05.021_bib1","series-title":"Cystic Fibrosis foundation patient registry 2023 annual data report","year":"2024"},{"issue":"Suppl 1","key":"10.1016\/j.eprac.2026.05.021_bib2","doi-asserted-by":"crossref","first-page":"S5","DOI":"10.1016\/j.jcf.2019.11.003","article-title":"The genetics and genomics of cystic fibrosis","volume":"19","author":"Sharma","year":"2020","journal-title":"J Cyst Fibros"},{"issue":"2","key":"10.1016\/j.eprac.2026.05.021_bib3","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1111\/andr.12925","article-title":"Prevalence of CBAVD in azoospermic men carrying pathogenic CFTR mutations - evaluated in a cohort of 639 non-vasectomized azoospermic men","volume":"9","author":"Fedder","year":"2021","journal-title":"Andrology"},{"issue":"22","key":"10.1016\/j.eprac.2026.05.021_bib4","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1056\/NEJM199011293232203","article-title":"The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508)","volume":"323","author":"Kerem","year":"1990","journal-title":"New Engl J Med"},{"issue":"4","key":"10.1016\/j.eprac.2026.05.021_bib5","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1375\/136905200320565256","article-title":"Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics","volume":"3","author":"Mekus","year":"2000","journal-title":"Twin Res"},{"issue":"1","key":"10.1016\/j.eprac.2026.05.021_bib6","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1053\/gast.2000.8524","article-title":"Residual chloride secretion in intestinal tissue of deltaF508 homozygous twins and siblings with cystic fibrosis. The European CF Twin and Sibling Study Consortium","volume":"119","author":"Bronsveld","year":"2000","journal-title":"Gastroenterology"},{"issue":"4","key":"10.1016\/j.eprac.2026.05.021_bib7","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1053\/j.gastro.2006.07.016","article-title":"Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis","volume":"131","author":"Blackman","year":"2006","journal-title":"Gastroenterology"},{"issue":"10","key":"10.1016\/j.eprac.2026.05.021_bib8","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1164\/rccm.200608-1164OC","article-title":"Heritability of lung disease severity in cystic fibrosis","volume":"175","author":"Vanscoy","year":"2007","journal-title":"Am J Respir Crit Care Med"},{"issue":"4","key":"10.1016\/j.eprac.2026.05.021_bib9","doi-asserted-by":"crossref","first-page":"1302","DOI":"10.1210\/jc.2008-2186","article-title":"Genetic modifiers play a substantial role in diabetes complicating cystic fibrosis","volume":"94","author":"Blackman","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.eprac.2026.05.021_bib10","doi-asserted-by":"crossref","first-page":"8382","DOI":"10.1038\/ncomms9382","article-title":"Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis","volume":"6","author":"Corvol","year":"2015","journal-title":"Nat Commun"},{"issue":"6","key":"10.1016\/j.eprac.2026.05.021_bib11","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1038\/ng.838","article-title":"Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2","volume":"43","author":"Wright","year":"2011","journal-title":"Nat Genet"},{"issue":"10","key":"10.1016\/j.eprac.2026.05.021_bib12","doi-asserted-by":"crossref","first-page":"1324","DOI":"10.1164\/rccm.202209-1653OC","article-title":"Genetic modifiers of cystic fibrosis lung disease severity: whole-genome analysis of 7,840 patients","volume":"207","author":"Zhou","year":"2023","journal-title":"Am J Respir Crit Care Med"},{"issue":"10","key":"10.1016\/j.eprac.2026.05.021_bib13","doi-asserted-by":"crossref","first-page":"2203","DOI":"10.1016\/j.ajhg.2024.08.004","article-title":"Genetic modifiers of body mass index in individuals with cystic fibrosis","volume":"111","author":"Ling","year":"2024","journal-title":"Am J Hum Genet"},{"issue":"10","key":"10.1016\/j.eprac.2026.05.021_bib14","doi-asserted-by":"crossref","first-page":"3627","DOI":"10.2337\/db13-0510","article-title":"Genetic modifiers of cystic fibrosis-related diabetes","volume":"62","author":"Blackman","year":"2013","journal-title":"Diabetes"},{"issue":"5","key":"10.1016\/j.eprac.2026.05.021_bib15","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1210\/clinem\/dgz102","article-title":"Genetic modifiers of cystic fibrosis-related diabetes have extensive overlap with type 2 diabetes and related traits","volume":"105","author":"Aksit","year":"2020","journal-title":"J Clin Endocrinol Metab"},{"issue":"10","key":"10.1016\/j.eprac.2026.05.021_bib16","doi-asserted-by":"crossref","first-page":"1894","DOI":"10.1016\/j.ajhg.2022.09.004","article-title":"Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis","volume":"109","author":"Aksit","year":"2022","journal-title":"Am J Hum Genet"},{"issue":"5","key":"10.1016\/j.eprac.2026.05.021_bib17","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1097\/HEP.0000000000000863","article-title":"Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis","volume":"80","author":"Stonebraker","year":"2024","journal-title":"Hepatology"},{"issue":"5","key":"10.1016\/j.eprac.2026.05.021_bib18","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.00062-2024","article-title":"Genome-wide association study of susceptibility to Pseudomonas aeruginosa infection in cystic fibrosis","volume":"64","author":"Lin","year":"2024","journal-title":"Eur Respir J"},{"issue":"5","key":"10.1016\/j.eprac.2026.05.021_bib19","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1038\/ng.2221","article-title":"Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis","volume":"44","author":"Sun","year":"2012","journal-title":"Nat Genet"},{"issue":"2","key":"10.1016\/j.eprac.2026.05.021_bib20","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1008007","article-title":"Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci","volume":"15","author":"Gong","year":"2019","journal-title":"Plos Genet"},{"issue":"5","key":"10.1016\/j.eprac.2026.05.021_bib21","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1016\/j.jpeds.2010.05.018","article-title":"Quantification of the relative contribution of environmental and genetic factors to variation in cystic fibrosis lung function","volume":"157","author":"Collaco","year":"2010","journal-title":"J Pediatrics"},{"issue":"7","key":"10.1016\/j.eprac.2026.05.021_bib22","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1080\/17476348.2020.1753507","article-title":"Influences of environmental exposures on individuals living with cystic fibrosis","volume":"14","author":"Szczesniak","year":"2020","journal-title":"Expert Review Respiratory Medicine"},{"issue":"485","key":"10.1016\/j.eprac.2026.05.021_bib23","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.aau7531","article-title":"In utero and postnatal VX-770 administration rescues multiorgan disease in a ferret model of cystic fibrosis","volume":"11","author":"Sun","year":"2019","journal-title":"Sci Transl Med"},{"issue":"5","key":"10.1016\/j.eprac.2026.05.021_bib24","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1016\/j.jcf.2024.06.003","article-title":"Clinical outcomes of two infants with cystic fibrosis, including presence of the vas deferens, born to a woman with cystic fibrosis taking CFTR modulators during both pregnancies","volume":"23","author":"Kowalik","year":"2024","journal-title":"J Cyst Fibros"},{"issue":"1","key":"10.1016\/j.eprac.2026.05.021_bib25","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.jcf.2018.05.004","article-title":"CFTR modulator theratyping: current status, gaps and future directions","volume":"18","author":"Clancy","year":"2019","journal-title":"J Cyst Fibros"},{"issue":"2","key":"10.1016\/j.eprac.2026.05.021_bib26","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1164\/rccm.201403-0576OC","article-title":"Diabetes-related mortality in adults with cystic fibrosis. Role of genotype and sex","volume":"191","author":"Lewis","year":"2015","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.eprac.2026.05.021_bib27","article-title":"The role of genetic modifiers, inflammation and CFTR in the pathogenesis of Cystic fibrosis related diabetes","volume":"27","author":"Hasan","year":"2022","journal-title":"J Clin Transl Endocrinol"},{"issue":"6","key":"10.1016\/j.eprac.2026.05.021_bib28","doi-asserted-by":"crossref","first-page":"1503","DOI":"10.1210\/clinem\/dgac020","article-title":"New concepts in the pathogenesis of cystic fibrosis-related diabetes","volume":"107","author":"Moheet","year":"2022","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"10.1016\/j.eprac.2026.05.021_bib29","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.2337\/dc23-0380","article-title":"Cystic fibrosis-related diabetes workshop: research priorities spanning disease pathophysiology, diagnosis, and outcomes","volume":"46","author":"Putman","year":"2023","journal-title":"Diabetes Care"},{"key":"10.1016\/j.eprac.2026.05.021_bib30","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2023.1269139","article-title":"Pancreas and islet morphology in cystic fibrosis: clues to the etiology of cystic fibrosis-related diabetes","volume":"14","author":"Malik","year":"2023","journal-title":"Front Endocrinol"},{"key":"10.1016\/j.eprac.2026.05.021_bib31","doi-asserted-by":"crossref","first-page":"4420","DOI":"10.1038\/ncomms5420","article-title":"Glucose-induced electrical activities and insulin secretion in pancreatic islet \u03b2-cells are modulated by CFTR","volume":"5","author":"Guo","year":"2014","journal-title":"Nat Commun"},{"issue":"11","key":"10.1016\/j.eprac.2026.05.021_bib32","doi-asserted-by":"crossref","first-page":"1505","DOI":"10.1038\/s41588-018-0241-6","article-title":"Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps","volume":"50","author":"Mahajan","year":"2018","journal-title":"Nat Genet"},{"issue":"6","key":"10.1016\/j.eprac.2026.05.021_bib33","doi-asserted-by":"crossref","first-page":"2172","DOI":"10.2337\/db13-1663","article-title":"Polygenic type 2 diabetes prediction at the limit of common variant detection","volume":"63","author":"Vassy","year":"2014","journal-title":"Diabetes"},{"issue":"9","key":"10.1016\/j.eprac.2026.05.021_bib34","doi-asserted-by":"crossref","first-page":"1858","DOI":"10.1007\/s00125-009-1436-2","article-title":"A susceptibility gene for type 2 diabetes confers substantial risk for diabetes complicating cystic fibrosis","volume":"52","author":"Blackman","year":"2009","journal-title":"Diabetologia"},{"issue":"1","key":"10.1016\/j.eprac.2026.05.021_bib35","doi-asserted-by":"crossref","DOI":"10.1111\/apha.13729","article-title":"Hydrokinetic pancreatic function and insulin secretion are moduled by Cl(-) uniporter Slc26a9 in mice","volume":"234","author":"Li","year":"2022","journal-title":"Acta Physiol (Oxf)"},{"issue":"1","key":"10.1016\/j.eprac.2026.05.021_bib36","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1172\/JCI129833","article-title":"Increased expression of anion transporter SLC26A9 delays diabetes onset in cystic fibrosis","volume":"130","author":"Lam","year":"2020","journal-title":"J Clin Invest"},{"issue":"5","key":"10.1016\/j.eprac.2026.05.021_bib37","doi-asserted-by":"crossref","first-page":"1152","DOI":"10.1016\/j.jpeds.2015.01.044","article-title":"Variants in solute carrier SLC26A9 modify prenatal exocrine pancreatic damage in cystic fibrosis","volume":"166","author":"Miller","year":"2015","journal-title":"J Pediatrics"},{"issue":"1","key":"10.1016\/j.eprac.2026.05.021_bib38","doi-asserted-by":"crossref","first-page":"5033","DOI":"10.1038\/s41467-018-07347-y","article-title":"A preclinical model of chronic pancreatitis driven by trypsinogen autoactivation","volume":"9","author":"Geisz","year":"2018","journal-title":"Nat Commun"},{"issue":"11","key":"10.1016\/j.eprac.2026.05.021_bib39","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1038\/s41424-018-0069-5","article-title":"SPINK1, PRSS1, CTRC, and CFTR genotypes influence disease onset and clinical outcomes in chronic pancreatitis","volume":"9","author":"Zou","year":"2018","journal-title":"Clin Transl Gastroenterol"},{"issue":"1","key":"10.1016\/j.eprac.2026.05.021_bib40","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1186\/s10020-018-0041-6","article-title":"Trans-heterozygosity for mutations enhances the risk of recurrent\/chronic pancreatitis in patients with cystic fibrosis","volume":"24","author":"Sofia","year":"2018","journal-title":"Mol Med"},{"issue":"3","key":"10.1016\/j.eprac.2026.05.021_bib41","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1004160","article-title":"Genome-wide DNA methylation analysis of human pancreatic islets from type 2 diabetic and non-diabetic donors identifies candidate genes that influence insulin secretion","volume":"10","author":"Dayeh","year":"2014","journal-title":"PLoS Genet"},{"issue":"9","key":"10.1016\/j.eprac.2026.05.021_bib42","doi-asserted-by":"crossref","first-page":"2962","DOI":"10.2337\/db13-1459","article-title":"Altered DNA methylation and differential expression of genes influencing metabolism and inflammation in adipose tissue from subjects with type 2 diabetes","volume":"63","author":"Nilsson","year":"2014","journal-title":"Diabetes"},{"key":"10.1016\/j.eprac.2026.05.021_bib43","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/s13148-016-0300-8","article-title":"DNA methylation at modifier genes of lung disease severity is altered in cystic fibrosis","volume":"9","author":"Magalh\u00e3es","year":"2017","journal-title":"Clin Epigenetics"},{"issue":"6","key":"10.1016\/j.eprac.2026.05.021_bib44","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1111\/pedi.12026","article-title":"Insulin secretion improves in cystic fibrosis following Ivacaftor correction of CFTR: a small pilot study","volume":"14","author":"Bellin","year":"2013","journal-title":"Pediatr Diabetes"},{"issue":"3","key":"10.1016\/j.eprac.2026.05.021_bib45","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1164\/rccm.201806-1018OC","article-title":"Islet hormone and incretin secretion in cystic fibrosis after four months of Ivacaftor therapy","volume":"199","author":"Kelly","year":"2019","journal-title":"Am J Respir Crit Care Med"},{"issue":"1","key":"10.1016\/j.eprac.2026.05.021_bib46","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1016\/j.jcf.2019.05.015","article-title":"Disease progression in patients with cystic fibrosis treated with Ivacaftor: data from national US and UK registries","volume":"19","author":"Volkova","year":"2020","journal-title":"J Cyst Fibros"},{"issue":"1","key":"10.1016\/j.eprac.2026.05.021_bib47","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1210\/clinem\/dgad443","article-title":"Preservation of \u03b2-cell function in pancreatic insufficient cystic fibrosis with highly effective CFTR modulator therapy","volume":"109","author":"Flatt","year":"2023","journal-title":"J Clin Endocrinol Metab"},{"issue":"9","key":"10.1016\/j.eprac.2026.05.021_bib48","doi-asserted-by":"crossref","first-page":"2674","DOI":"10.1210\/clinem\/dgae857","article-title":"Glycemia and insulin secretion in cystic fibrosis 2 years after Elexacaftor\/Tezacaftor\/Ivacaftor: PROMISE-ENDO","volume":"110","author":"Chan","year":"2025","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"10.1016\/j.eprac.2026.05.021_bib49","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1016\/j.jpeds.2013.02.026","article-title":"Pubertal height velocity and associations with prepubertal and adult heights in cystic fibrosis","volume":"163","author":"Zhang","year":"2013","journal-title":"J Pediatrics"},{"key":"10.1016\/j.eprac.2026.05.021_bib50","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2022.935354","article-title":"Trends in growth and maturation in children with cystic fibrosis throughout nine decades","volume":"13","author":"Mason","year":"2022","journal-title":"Front Endocrinol"},{"issue":"3","key":"10.1016\/j.eprac.2026.05.021_bib51","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1038\/s41390-020-0940-4","article-title":"Genetic potential and height velocity during childhood and adolescence do not fully account for shorter stature in cystic fibrosis","volume":"89","author":"Zysman-Colman","year":"2021","journal-title":"Pediatr Res"},{"issue":"3","key":"10.1016\/j.eprac.2026.05.021_bib52","doi-asserted-by":"crossref","DOI":"10.1001\/jamanetworkopen.2022.0740","article-title":"Association of body mass index with clinical outcomes in patients with cystic fibrosis: a systematic review and meta-analysis","volume":"5","author":"Nagy","year":"2022","journal-title":"JAMA Netw Open"},{"key":"10.1016\/j.eprac.2026.05.021_bib53","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/5584_2017_66","article-title":"Survival of patients with cystic fibrosis depending on mutation type and nutritional status","volume":"1023","author":"Szwed","year":"2018","journal-title":"Adv Exp Med Biol"},{"issue":"1","key":"10.1016\/j.eprac.2026.05.021_bib54","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.jcf.2019.10.004","article-title":"Prevalence and factors associated with overweight and obesity in adults with cystic fibrosis: a single-center analysis","volume":"19","author":"Harindhanavudhi","year":"2020","journal-title":"J Cyst Fibros"},{"issue":"5","key":"10.1016\/j.eprac.2026.05.021_bib55","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1016\/j.jcf.2022.03.010","article-title":"Obesity in Cystic fibrosis: prevalence, trends and associated factors data from the US cystic fibrosis foundation patient registry","volume":"21","author":"Szentpetery","year":"2022","journal-title":"J Cyst Fibros"},{"issue":"5","key":"10.1016\/j.eprac.2026.05.021_bib56","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1016\/j.jcf.2021.12.014","article-title":"Nutritional status and lung function in children with pancreatic-sufficient cystic fibrosis","volume":"21","author":"Madde","year":"2022","journal-title":"J Cyst Fibros"},{"issue":"6","key":"10.1016\/j.eprac.2026.05.021_bib57","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.3945\/ajcn.112.043406","article-title":"Genetic modifiers of nutritional status in cystic fibrosis","volume":"96","author":"Bradley","year":"2012","journal-title":"Am J Clin Nutrition"},{"issue":"6","key":"10.1016\/j.eprac.2026.05.021_bib58","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1001\/jamapediatrics.2017.0206","article-title":"Effects of diagnosis by newborn screening for cystic fibrosis on weight and length in the first year of life","volume":"171","author":"Leung","year":"2017","journal-title":"JAMA Pediatrics"},{"issue":"3","key":"10.1016\/j.eprac.2026.05.021_bib59","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1016\/j.jcf.2023.02.008","article-title":"Early life growth trajectories in cystic fibrosis are associated with lung function at age six","volume":"22","author":"Psoter","year":"2023","journal-title":"J Cyst Fibros"},{"issue":"4","key":"10.1016\/j.eprac.2026.05.021_bib60","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1016\/j.jcf.2018.01.006","article-title":"Early life growth patterns persist for 12 years and impact pulmonary outcomes in cystic fibrosis","volume":"17","author":"Sanders","year":"2018","journal-title":"J Cyst Fibros"},{"key":"10.1016\/j.eprac.2026.05.021_bib61","doi-asserted-by":"crossref","first-page":"S82","DOI":"10.1016\/j.jcf.2019.08.010","article-title":"Growth failure and treatment in cystic fibrosis","volume":"18","author":"Le","year":"2019","journal-title":"J Cystic Fibrosis"},{"issue":"12","key":"10.1016\/j.eprac.2026.05.021_bib62","doi-asserted-by":"crossref","DOI":"10.3390\/nu13124414","article-title":"Most short children with cystic fibrosis do not catch up by adulthood","volume":"13","author":"Marks","year":"2021","journal-title":"Nutrients"},{"issue":"3","key":"10.1016\/j.eprac.2026.05.021_bib63","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1016\/j.jcf.2023.10.012","article-title":"Factors associated with pubertal growth outcomes in cystic fibrosis: early growth and Puberty in CF","volume":"23","author":"Patil","year":"2024","journal-title":"J Cyst Fibros"},{"issue":"4","key":"10.1016\/j.eprac.2026.05.021_bib64","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0175467","article-title":"Growth deficits in cystic fibrosis mice begin in utero prior to IGF-1 reduction","volume":"12","author":"Darrah","year":"2017","journal-title":"PLoS One"},{"issue":"3","key":"10.1016\/j.eprac.2026.05.021_bib65","doi-asserted-by":"crossref","first-page":"G528","DOI":"10.1152\/ajpgi.00052.2011","article-title":"Cystic fibrosis growth retardation is not correlated with loss of Cftr in the intestinal epithelium","volume":"301","author":"Hodges","year":"2011","journal-title":"Am J Physiol Gastrointest Liver Physiol"},{"issue":"47","key":"10.1016\/j.eprac.2026.05.021_bib66","doi-asserted-by":"crossref","first-page":"20571","DOI":"10.1073\/pnas.1015281107","article-title":"Pigs and humans with cystic fibrosis have reduced insulin-like growth factor 1 (IGF1) levels at birth","volume":"107","author":"Rogan","year":"2010","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"11","key":"10.1016\/j.eprac.2026.05.021_bib67","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0188497","article-title":"Reduced bone length, growth plate thickness, bone content, and IGF-I as a model for poor growth in the CFTR-deficient rat","volume":"12","author":"Stalvey","year":"2017","journal-title":"PLoS One"},{"key":"10.1016\/j.eprac.2026.05.021_bib68","article-title":"Obesity in cystic fibrosis","volume":"26","author":"Kutney","year":"2021","journal-title":"J Clin Transl Endocrinol"},{"key":"10.1016\/j.eprac.2026.05.021_bib69","doi-asserted-by":"crossref","DOI":"10.1177\/20420188251328210","article-title":"Cystic fibrosis-related bone disease: an update on screening, diagnosis, and treatment","volume":"16","author":"Cobb","year":"2025","journal-title":"Ther Adv Endocrinol Metab"},{"issue":"3","key":"10.1016\/j.eprac.2026.05.021_bib70","doi-asserted-by":"crossref","first-page":"186","DOI":"10.7326\/0003-4819-128-3-199802010-00004","article-title":"Increased rate of fractures and severe kyphosis: sequelae of living into adulthood with cystic fibrosis","volume":"128","author":"Aris","year":"1998","journal-title":"Ann Internal Medicine"},{"key":"10.1016\/j.eprac.2026.05.021_bib71","doi-asserted-by":"crossref","DOI":"10.1093\/jbmr\/zjae139","article-title":"Longitudinal changes in bone mineral density in adults with cystic fibrosis","author":"Jad","year":"2024","journal-title":"J Bone Miner Res"},{"issue":"1","key":"10.1016\/j.eprac.2026.05.021_bib72","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1038\/s41413-021-00143-3","article-title":"Twelve years of GWAS discoveries for osteoporosis and related traits: advances, challenges and applications","volume":"9","author":"Zhu","year":"2021","journal-title":"Bone Res"},{"issue":"22","key":"10.1016\/j.eprac.2026.05.021_bib73","doi-asserted-by":"crossref","first-page":"2355","DOI":"10.1056\/NEJMoa0801197","article-title":"Multiple genetic loci for bone mineral density and fractures","volume":"358","author":"Styrkarsdottir","year":"2008","journal-title":"New Engl J Med"},{"issue":"9623","key":"10.1016\/j.eprac.2026.05.021_bib74","doi-asserted-by":"crossref","first-page":"1505","DOI":"10.1016\/S0140-6736(08)60599-1","article-title":"Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study","volume":"371","author":"Richards","year":"2008","journal-title":"Lancet (London, England)"},{"key":"10.1016\/j.eprac.2026.05.021_bib75","article-title":"Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study","volume":"362","author":"Trajanoska","year":"2018","journal-title":"BMJ (Clinical Research Ed)"},{"issue":"11","key":"10.1016\/j.eprac.2026.05.021_bib76","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1038\/ng.446","article-title":"Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies","volume":"41","author":"Rivadeneira","year":"2009","journal-title":"Nat Genet"},{"issue":"7","key":"10.1016\/j.eprac.2026.05.021_bib77","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pmed.1003152","article-title":"Development of a polygenic risk score to improve screening for fracture risk: a genetic risk prediction study","volume":"17","author":"Forgetta","year":"2020","journal-title":"Plos Med"},{"issue":"1","key":"10.1016\/j.eprac.2026.05.021_bib78","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/s13073-021-00838-6","article-title":"Improved prediction of fracture risk leveraging a genome-wide polygenic risk score","volume":"13","author":"Lu","year":"2021","journal-title":"Genome Med"},{"issue":"5","key":"10.1016\/j.eprac.2026.05.021_bib79","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1002\/jbmr.3956","article-title":"Increased burden of common risk alleles in children with a significant fracture history","volume":"35","author":"Manousaki","year":"2020","journal-title":"J Bone Mineral Res"},{"issue":"7","key":"10.1016\/j.eprac.2026.05.021_bib80","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1136\/thx.2006.075887","article-title":"Cystic fibrosis transmembrane conductance regulator (CFTR) is expressed in human bone","volume":"62","author":"Shead","year":"2007","journal-title":"Thorax"},{"issue":"4","key":"10.1016\/j.eprac.2026.05.021_bib81","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1016\/j.jcf.2025.01.005","article-title":"CFTR mutation is associated with bone differentiation abnormalities in cystic fibrosis","volume":"24","author":"Dumortier","year":"2025","journal-title":"J Cystic Fibrosis"},{"issue":"3","key":"10.1016\/j.eprac.2026.05.021_bib82","doi-asserted-by":"crossref","DOI":"10.1016\/j.bbadis.2020.166010","article-title":"Osteoclastogenesis and sphingosine-1-phosphate secretion from human osteoclast precursor monocytes are modulated by the cystic fibrosis transmembrane conductance regulator","volume":"1867","author":"Jourdain","year":"2021","journal-title":"Biochim Biophys Acta Mol Basis Dis"},{"issue":"6","key":"10.1016\/j.eprac.2026.05.021_bib83","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1016\/j.jcf.2016.09.003","article-title":"Bone demineralization is improved by ivacaftor in patients with cystic fibrosis carrying the p.Gly551Asp mutation","volume":"15","author":"Sermet-Gaudelus","year":"2016","journal-title":"J Cyst Fibros"},{"issue":"1","key":"10.1016\/j.eprac.2026.05.021_bib84","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1183\/09031936.04.00050204","article-title":"Reduced bone density in cystic fibrosis: DeltaF508 mutation is an independent risk factor","volume":"25","author":"King","year":"2005","journal-title":"Eur Respir J"},{"issue":"9","key":"10.1016\/j.eprac.2026.05.021_bib85","first-page":"1725","article-title":"Genetic expression in cystic fibrosis related bone disease. An observational, transversal, cross-sectional study","volume":"62","author":"Ciuca","year":"2016","journal-title":"Clin Lab"},{"issue":"4","key":"10.1016\/j.eprac.2026.05.021_bib86","doi-asserted-by":"crossref","DOI":"10.1002\/ppul.71078","article-title":"Pancreatic status is not a risk factor for cystic fibrosis-related bone disease","volume":"60","author":"Dotan","year":"2025","journal-title":"Pediatr Pulmonol"},{"key":"10.1016\/j.eprac.2026.05.021_bib87","article-title":"The effects of ivacaftor on bone density and microarchitecture in children and adults with cystic fibrosis","author":"Putman","year":"2020","journal-title":"J Clin Endocrinol Metab"},{"issue":"8","key":"10.1016\/j.eprac.2026.05.021_bib88","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1136\/thoraxjnl-2017-210394","article-title":"Data from the US and UK cystic fibrosis registries support disease modification by CFTR modulation with Ivacaftor","volume":"73","author":"Bessonova","year":"2018","journal-title":"Thorax"},{"issue":"9","key":"10.1016\/j.eprac.2026.05.021_bib89","doi-asserted-by":"crossref","DOI":"10.1002\/ppul.71280","article-title":"Elexacaftor\/Tezacaftor\/Ivacaftor effect on bone density and body composition: a retrospective analysis","volume":"60","author":"Trost","year":"2025","journal-title":"Pediatr Pulmonol"},{"issue":"4","key":"10.1016\/j.eprac.2026.05.021_bib90","first-page":"334","article-title":"Genetic risk markers of low bone mineral density in cystic fibrosis children","volume":"14","author":"Norek","year":"2010","journal-title":"Med Wieku Rozwoj"},{"issue":"4","key":"10.1016\/j.eprac.2026.05.021_bib91","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/j.jcf.2006.03.008","article-title":"The genetic background of osteoporosis in cystic fibrosis: association analysis with polymorphic markers in four candidate genes","volume":"5","author":"Castellani","year":"2006","journal-title":"J Cyst Fibros"},{"key":"10.1016\/j.eprac.2026.05.021_bib92","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/1479-5876-11-19","article-title":"TNF gene polymorphisms in cystic fibrosis patients: contribution to the disease progression","volume":"11","author":"Shmarina","year":"2013","journal-title":"J Transl Med"},{"key":"10.1016\/j.eprac.2026.05.021_bib93","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/1471-2350-15-27","article-title":"Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study","volume":"15","author":"Marson","year":"2014","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.eprac.2026.05.021_bib94","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.gene.2017.07.068","article-title":"Association of clinical severity of cystic fibrosis with variants in the SLC gene family (SLC6A14, SLC26A9, SLC11A1 and SLC9A3)","volume":"629","author":"Pereira","year":"2017","journal-title":"Gene"},{"issue":"4","key":"10.1016\/j.eprac.2026.05.021_bib95","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1016\/j.ygeno.2018.05.001","article-title":"New insights into the epigenetics of osteoporosis","volume":"111","author":"Letarouilly","year":"2019","journal-title":"Genomics"},{"issue":"5","key":"10.1016\/j.eprac.2026.05.021_bib96","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1038\/s41436-020-01073-x","article-title":"Cystic fibrosis-related diabetes onset can be predicted using biomarkers measured at birth","volume":"23","author":"Lin","year":"2021","journal-title":"Genet Med"},{"issue":"7307","key":"10.1016\/j.eprac.2026.05.021_bib97","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1038\/nature09270","article-title":"Biological, clinical and population relevance of 95 loci for blood lipids","volume":"466","author":"Teslovich","year":"2010","journal-title":"Nature"},{"issue":"10","key":"10.1016\/j.eprac.2026.05.021_bib98","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1038\/s41574-022-00716-0","article-title":"The promise of new anti-obesity therapies arising from knowledge of genetic obesity traits","volume":"18","author":"Hinney","year":"2022","journal-title":"Nat Rev Endocrinol"}],"container-title":["Endocrine Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1530891X26010001?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1530891X26010001?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T21:48:59Z","timestamp":1790804939000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1530891X26010001"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10]]},"references-count":98,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["S1530891X26010001"],"URL":"https:\/\/doi.org\/10.1016\/j.eprac.2026.05.021","relation":{},"ISSN":["1530-891X"],"issn-type":[{"value":"1530-891X","type":"print"}],"subject":[],"published":{"date-parts":[[2026,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Impact of Genetics on Endocrine Manifestations of Cystic Fibrosis","name":"articletitle","label":"Article Title"},{"value":"Endocrine Practice","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.eprac.2026.05.021","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 AACE. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}