{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T01:23:55Z","timestamp":1793496235938,"version":"4.5.0"},"reference-count":87,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,5,13]],"date-time":"2019-05-13T00:00:00Z","timestamp":1557705600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000009","name":"Foundation for the National Institutes of Health","doi-asserted-by":"publisher","award":["R01HG006399"],"award-info":[{"award-number":["R01HG006399"]}],"id":[{"id":"10.13039\/100000009","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000009","name":"Foundation for the National Institutes of Health","doi-asserted-by":"publisher","award":["R01MH115676"],"award-info":[{"award-number":["R01MH115676"]}],"id":[{"id":"10.13039\/100000009","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000009","name":"Foundation for the National Institutes of Health","doi-asserted-by":"publisher","award":["R01HG009120"],"award-info":[{"award-number":["R01HG009120"]}],"id":[{"id":"10.13039\/100000009","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000009","name":"Foundation for the National Institutes of Health","doi-asserted-by":"publisher","award":["U01CA194393"],"award-info":[{"award-number":["U01CA194393"]}],"id":[{"id":"10.13039\/100000009","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["097152\/Z\/11\/Z"],"award-info":[{"award-number":["097152\/Z\/11\/Z"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006364","name":"Institut National Du Cancer","doi-asserted-by":"publisher","award":["T32LM012424"],"award-info":[{"award-number":["T32LM012424"]}],"id":[{"id":"10.13039\/501100006364","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genetic Epidemiology"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Dupuytren's disease is a common inherited tissue\u2010specific fibrotic disorder, characterized by progressive and irreversible fibroblastic proliferation affecting the palmar fascia of the hand. Although genome\u2010wide association study (GWAS) have identified 24 genomic regions associated with Dupuytrens risk, the biological mechanisms driving signal at these regions remain elusive. We identify potential biological mechanisms for Dupuytren's disease by integrating the most recent, largest GWAS (3,871 cases and 4,686 controls) with eQTLs (47 tissue panels from five consortia, total\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20093,975) to perform a transcriptome\u2010wide association study. We identify 43 tissue\u2010specific gene associations with Dupuytren's risk, including one in a novel risk region. We also estimate the genome\u2010wide genetic correlation between Dupuytren's disease and 45 complex traits and find significant genetic correlations between Dupuytren's disease and body mass index (BMI), type II diabetes, triglycerides, and high\u2010density lipoprotein (HDL), suggesting a shared genetic etiology between these traits. We further examine local genetic correlation to identify 8 and 3 novel regions significantly correlated with BMI and HDL respectively. Our results are consistent with previous epidemiological findings showing that lower BMI increases risk for Dupuytren's disease. These 12 novel risk regions provide new insight into the biological mechanisms of Dupuytren's disease and serve as a starting point for functional validation.\n                  <\/jats:p>","DOI":"10.1002\/gepi.22209","type":"journal-article","created":{"date-parts":[[2019,5,13]],"date-time":"2019-05-13T23:55:21Z","timestamp":1557791721000},"page":"629-645","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Integrative analysis of Dupuytren's disease identifies novel risk locus and reveals a shared genetic etiology with BMI"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9684-8844","authenticated-orcid":false,"given":"Megan","family":"Major","sequence":"first","affiliation":[{"name":"Bioinformatics Interdepartmental Program University of California Los Angeles  Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malika K.","family":"Freund","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, David Geffen School of Medicine University of California Los Angeles  Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn S.","family":"Burch","sequence":"additional","affiliation":[{"name":"Bioinformatics Interdepartmental Program University of California Los Angeles  Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Mancuso","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, David Geffen School of Medicine University of California Los Angeles  Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Ng","sequence":"additional","affiliation":[{"name":"Nuffield Department of Orthopaedics, Rheumatology, and Musculoskeletal Science University of Oxford  Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominic","family":"Furniss","sequence":"additional","affiliation":[{"name":"Nuffield Department of Orthopaedics, Rheumatology, and Musculoskeletal Science University of Oxford  Oxford UK"},{"name":"Department of Plastic and Reconstructive Surgery Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital  Oxford UK"},{"name":"NIHR Biomedical Research Centre, NDORMS University of Oxford  Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bogdan","family":"Pasaniuc","sequence":"additional","affiliation":[{"name":"Bioinformatics Interdepartmental Program University of California Los Angeles  Los Angeles California"},{"name":"Department of Human Genetics, David Geffen School of Medicine University of California Los Angeles  Los Angeles California"},{"name":"Department of Pathology and Laboratory Medicine, David Geffen School of Medicine University of California Los Angeles  Los Angeles California"},{"name":"Department of Biomathematics, David Geffen School of Medicine University of California Los Angeles  Los Angeles CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8287-6457","authenticated-orcid":false,"given":"Roel A.","family":"Ophoff","sequence":"additional","affiliation":[{"name":"Bioinformatics Interdepartmental Program University of California Los Angeles  Los Angeles California"},{"name":"Department of Human Genetics, David Geffen School of Medicine University of California Los Angeles  Los Angeles California"},{"name":"Center for Neurobehavioral Genetics University of California Los Angeles  Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,5,13]]},"reference":[{"key":"e_1_2_9_1_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"e_1_2_9_1_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12915-017-0383-5"},{"key":"e_1_2_9_1_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btv546"},{"key":"e_1_2_9_1_5_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20161135"},{"key":"e_1_2_9_1_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3406"},{"key":"e_1_2_9_1_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3211"},{"key":"e_1_2_9_1_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-018-0579-z"},{"key":"e_1_2_9_1_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4495"},{"key":"e_1_2_9_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0363-5023(05)80068-1"},{"key":"e_1_2_9_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2017.03.004"},{"key":"e_1_2_9_1_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1507125112"},{"key":"e_1_2_9_1_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.520"},{"key":"e_1_2_9_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(02)77708-8"},{"key":"e_1_2_9_1_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11247"},{"key":"e_1_2_9_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2017.09.004"},{"key":"e_1_2_9_1_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3708"},{"key":"e_1_2_9_1_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3173"},{"key":"e_1_2_9_1_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv472"},{"key":"e_1_2_9_1_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3404"},{"key":"e_1_2_9_1_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0081-4"},{"key":"e_1_2_9_1_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4399"},{"key":"e_1_2_9_1_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4376"},{"key":"e_1_2_9_1_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3367"},{"key":"e_1_2_9_1_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3954"},{"key":"e_1_2_9_1_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10659"},{"key":"e_1_2_9_1_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2016.06.059"},{"key":"e_1_2_9_1_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2653"},{"key":"e_1_2_9_1_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0895-4356(99)00145-6"},{"key":"e_1_2_9_1_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3506"},{"key":"e_1_2_9_1_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature24489"},{"key":"e_1_2_9_1_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.4407"},{"key":"e_1_2_9_1_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhsa.2016.12.010"},{"key":"e_1_2_9_1_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.02.001"},{"key":"e_1_2_9_1_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41593-018-0141-1"},{"key":"e_1_2_9_1_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41593-017-0056-2"},{"key":"e_1_2_9_1_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-16546-4"},{"key":"e_1_2_9_1_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19806"},{"key":"e_1_2_9_1_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2017.11.017"},{"key":"e_1_2_9_1_40_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty254"},{"key":"e_1_2_9_1_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cels.2016.08.010"},{"key":"e_1_2_9_1_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2016.09.027"},{"key":"e_1_2_9_1_43_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.O072629"},{"key":"e_1_2_9_1_44_1","doi-asserted-by":"publisher","DOI":"10.1177\/1753193414535720"},{"key":"e_1_2_9_1_45_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1004219"},{"key":"e_1_2_9_1_46_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3359"},{"key":"e_1_2_9_1_47_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2012.21"},{"key":"e_1_2_9_1_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.01.031"},{"key":"e_1_2_9_1_49_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3643"},{"key":"e_1_2_9_1_50_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature24284"},{"key":"e_1_2_9_1_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2017.07.009"},{"key":"e_1_2_9_1_52_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.08.006"},{"key":"e_1_2_9_1_53_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3396"},{"key":"e_1_2_9_1_54_1","doi-asserted-by":"publisher","DOI":"10.1177\/1403494814541597"},{"key":"e_1_2_9_1_55_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12873"},{"key":"e_1_2_9_1_56_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3552"},{"key":"e_1_2_9_1_57_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2016.11"},{"key":"e_1_2_9_1_58_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms10023"},{"key":"e_1_2_9_1_59_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms6890"},{"key":"e_1_2_9_1_60_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3570"},{"key":"e_1_2_9_1_61_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.943"},{"key":"e_1_2_9_1_62_1","doi-asserted-by":"publisher","DOI":"10.1086\/519795"},{"key":"e_1_2_9_1_63_1","doi-asserted-by":"publisher","DOI":"10.1093\/ije\/dym225"},{"key":"e_1_2_9_1_64_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature14248"},{"key":"e_1_2_9_1_65_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4462"},{"key":"e_1_2_9_1_66_1","doi-asserted-by":"publisher","DOI":"10.1302\/0301-620X.74B6.1447259"},{"key":"e_1_2_9_1_67_1","doi-asserted-by":"crossref","unstructured":"Saunders A. Macosko E. Wysoker A. Goldman M. Krienen F. deRivera H. \u2026McCarroll S. A.(2018). A Single\u2010Cell Atlas of Cell Types States and Other Transcriptional Patterns from Nine Regions of the Adult Mouse Brain.https:\/\/doi.org\/.org\/10.1101\/299081","DOI":"10.1101\/299081"},{"key":"e_1_2_9_1_68_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13595"},{"key":"e_1_2_9_1_69_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.05.013"},{"key":"e_1_2_9_1_70_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.09.022"},{"key":"e_1_2_9_1_71_1","doi-asserted-by":"publisher","DOI":"10.2337\/db10-0502"},{"issue":"2","key":"e_1_2_9_1_72_1","first-page":"438","article-title":"New insights into the genetics of primary open\u2010angle glaucoma based on meta\u2010analyses of intraocular pressure and optic disc characteristics","volume":"26","author":"Springelkamp H.","year":"2017","journal-title":"Human Molecular Genetics"},{"key":"e_1_2_9_1_73_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2016.04.015"},{"key":"e_1_2_9_1_74_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4216"},{"key":"e_1_2_9_1_75_1","doi-asserted-by":"publisher","DOI":"10.2337\/db15-1313"},{"key":"e_1_2_9_1_76_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.3881"},{"key":"e_1_2_9_1_77_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11677"},{"key":"e_1_2_9_1_78_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature25739"},{"key":"e_1_2_9_1_79_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002793"},{"key":"e_1_2_9_1_80_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-017-01261-5"},{"key":"e_1_2_9_1_81_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2797"},{"key":"e_1_2_9_1_82_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3097"},{"key":"e_1_2_9_1_83_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2951"},{"key":"e_1_2_9_1_84_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.11.011"},{"key":"e_1_2_9_1_85_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aaa1934"},{"key":"e_1_2_9_1_86_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.06.021"},{"key":"e_1_2_9_1_87_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature25980"},{"key":"e_1_2_9_1_88_1","doi-asserted-by":"publisher","DOI":"10.1089\/scd.2016.0162"}],"container-title":["Genetic Epidemiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gepi.22209","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/gepi.22209","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gepi.22209","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T22:41:47Z","timestamp":1694299307000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gepi.22209"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5,13]]},"references-count":87,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["10.1002\/gepi.22209"],"URL":"https:\/\/doi.org\/10.1002\/gepi.22209","archive":["Portico"],"relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/499368","asserted-by":"object"}]},"ISSN":["0741-0395","1098-2272"],"issn-type":[{"value":"0741-0395","type":"print"},{"value":"1098-2272","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,5,13]]},"assertion":[{"value":"2019-01-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-04-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-05-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}