{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T18:18:27Z","timestamp":1793038707744,"version":"4.5.0"},"reference-count":51,"publisher":"The Endocrine Society","issue":"5","license":[{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"UK Biobank","award":["103356"],"award-info":[{"award-number":["103356"]}]},{"DOI":"10.13039\/501100000361","name":"Diabetes UK","doi-asserted-by":"publisher","award":["19\/0005994"],"award-info":[{"award-number":["19\/0005994"]}],"id":[{"id":"10.13039\/501100000361","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000361","name":"Diabetes UK","doi-asserted-by":"publisher","award":["21\/0006335"],"award-info":[{"award-number":["21\/0006335"]}],"id":[{"id":"10.13039\/501100000361","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100020643","name":"MRC","doi-asserted-by":"publisher","award":["MR\/T00200X\/1"],"award-info":[{"award-number":["MR\/T00200X\/1"]}],"id":[{"id":"10.13039\/501100020643","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["219606\/Z\/19\/Z"],"award-info":[{"award-number":["219606\/Z\/19\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Exeter Biomedical Research Centre"},{"DOI":"10.13039\/501100000691","name":"Academy of Medical Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000691","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Government Department of Science Innovation and Technology"},{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["SBF009\\1135"],"award-info":[{"award-number":["SBF009\\1135"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,4,22]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Diagnosing maturity-onset diabetes of the young (MODY) is clinically important for treatment and prognosis. However, phenotype-based studies of MODY are prone to ascertainment bias, limiting accurate estimates of its population prevalence and phenotypic spectrum.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To apply a genotype-first approach to determine the population prevalence, penetrance, and all-cause mortality associated with MODY.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We analyzed exome sequencing and clinical data from 454 275 UK Biobank participants to identify pathogenic variants in 10 established MODY genes. We assessed variant prevalence, age-dependent diabetes penetrance, and all-cause mortality by genetic etiology over a mean follow-up of 13.4 years.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Pathogenic MODY variants were present in 1 in 1052 individuals and accounted for 1.48% of diabetes cases diagnosed before age 40. GCK variants were the most frequent (1 in 2787), demonstrating high penetrance (mean HbA1c 8.8\u2005mmol\/mol higher; 94.5% with prediabetes or diabetes) but no significant association with all-cause mortality (P = .09). Variants in other MODY genes showed lower penetrance, with 12% of carriers developing diabetes by age 40 and 31.6% by age 60 and showed no increase in all-cause mortality (P = .89). Penetrance varied by genetic etiology, with HNF1A showing the highest penetrance and PDX1, NEUROD1, and RFX6 the lowest. Parental history of diabetes and polygenic risk for type 2 diabetes were important modifiers of penetrance (hazard ratios 2.54 and 1.52, respectively; P &amp;lt; 3.9 \u00d7 10\u22123).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This large-scale genotype-first study provides novel insights into MODY in the population. These findings have broad implications for genetic counseling, personalized treatment strategies, and healthcare resource allocation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgaf599","type":"journal-article","created":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T13:05:44Z","timestamp":1761915944000},"page":"e1388-e1395","source":"Crossref","is-referenced-by-count":11,"title":["Population Prevalence, Penetrance, and Mortality for Genetically Confirmed MODY"],"prefix":"10.1210","volume":"111","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-3657-5493","authenticated-orcid":false,"given":"Luke N","family":"Sharp","sequence":"first","affiliation":[{"name":"Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter , Exeter EX4 4QJ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Colclough","sequence":"additional","affiliation":[{"name":"Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter , Exeter EX4 4QJ ,","place":["UK"]},{"name":"Exeter Genomic Laboratory, Royal Devon University Healthcare NHS Foundation Trust , Exeter ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6990-5826","authenticated-orcid":false,"given":"Jacques","family":"Murray Leech","sequence":"additional","affiliation":[{"name":"Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter , Exeter EX4 4QJ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5108-7615","authenticated-orcid":false,"given":"Stuart J","family":"Cannon","sequence":"additional","affiliation":[{"name":"Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter , Exeter EX4 4QJ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6399-0089","authenticated-orcid":false,"given":"Thomas W","family":"Laver","sequence":"additional","affiliation":[{"name":"Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter , Exeter EX4 4QJ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5620-473X","authenticated-orcid":false,"given":"Andrew T","family":"Hattersley","sequence":"additional","affiliation":[{"name":"Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter , Exeter EX4 4QJ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6174-6135","authenticated-orcid":false,"given":"Michael N","family":"Weedon","sequence":"additional","affiliation":[{"name":"Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter , Exeter EX4 4QJ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9240-8104","authenticated-orcid":false,"given":"Kashyap A","family":"Patel","sequence":"additional","affiliation":[{"name":"Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter , Exeter EX4 4QJ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2025,11,1]]},"reference":[{"issue":"9","key":"2026042119564536000_dgaf599-B1","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1111\/jdi.13860","article-title":"Precision diabetes: lessons learned from maturity-onset diabetes of the young (MODY)","volume":"13","author":"Tosur","year":"2022","journal-title":"J Diabetes 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