{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,13]],"date-time":"2026-11-13T14:09:21Z","timestamp":1794578961053,"version":"4.9.1"},"reference-count":80,"publisher":"Cambridge University Press (CUP)","issue":"6","license":[{"start":{"date-parts":[[2022,4,5]],"date-time":"2022-04-05T00:00:00Z","timestamp":1649116800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"crossref","award":["538-2013-8864"],"award-info":[{"award-number":["538-2013-8864"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Psychol. Med."],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"S0033291721004554_sec_a1\">\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Anorexia nervosa (AN) is a psychiatric disorder with complex etiology, with a significant portion of disease risk imparted by genetics. Traditional genome-wide association studies (GWAS) produce principal evidence for the association of genetic variants with disease. Transcriptomic imputation (TI) allows for the translation of those variants into regulatory mechanisms, which can then be used to assess the functional outcome of genetically regulated gene expression (GReX) in a broader setting through the use of phenome-wide association studies (pheWASs) in large and diverse clinical biobank populations with electronic health record phenotypes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"S0033291721004554_sec_a2\" sec-type=\"methods\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Here, we applied TI using S-PrediXcan to translate the most recent PGC-ED AN GWAS findings into AN-GReX. For significant genes, we imputed AN-GReX in the Mount Sinai Bio\n                      <jats:italic>Me<\/jats:italic>\n                      \u2122 Biobank and performed pheWASs on over 2000 outcomes to test the clinical consequences of aberrant expression of these genes. We performed a secondary analysis to assess the impact of body mass index (BMI) and sex on AN-GReX clinical associations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"S0033291721004554_sec_a3\" sec-type=\"results\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Our S-PrediXcan analysis identified 53 genes associated with AN, including what is, to our knowledge, the first-genetic association of AN with the major histocompatibility complex. AN-GReX was associated with autoimmune, metabolic, and gastrointestinal diagnoses in our biobank cohort, as well as measures of cholesterol, medications, substance use, and pain. Additionally, our analyses showed moderation of AN-GReX associations with measures of cholesterol and substance use by BMI, and moderation of AN-GReX associations with celiac disease by sex.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"S0033291721004554_sec_a4\" sec-type=\"conclusions\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our BMI-stratified results provide potential avenues of functional mechanism for AN-genes to investigate further.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1017\/s0033291721004554","type":"journal-article","created":{"date-parts":[[2022,4,5]],"date-time":"2022-04-05T03:42:27Z","timestamp":1649130147000},"page":"2619-2633","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":25,"title":["Mapping anorexia nervosa genes to clinical phenotypes"],"prefix":"10.1017","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4519-3120","authenticated-orcid":false,"given":"Jessica S.","family":"Johnson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7743-7815","authenticated-orcid":false,"given":"Alanna C.","family":"Cote","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5445-242X","authenticated-orcid":false,"given":"Amanda","family":"Dobbyn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7628-4378","authenticated-orcid":false,"given":"Laura G.","family":"Sloofman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6379-386X","authenticated-orcid":false,"given":"Jiayi","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4146-2060","authenticated-orcid":false,"given":"Liam","family":"Cotter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8135-6858","authenticated-orcid":false,"given":"Alexander W.","family":"Charney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Eating Disorders Working Group of the Psychiatric Genomics Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1220-9680","authenticated-orcid":false,"given":"Andreas","family":"Birgeg\u00e5rd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4699-6301","authenticated-orcid":false,"given":"Jennifer","family":"Jordan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6445-8526","authenticated-orcid":false,"given":"Martin","family":"Kennedy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4496-6451","authenticated-orcid":false,"given":"Mika\u00e9l","family":"Land\u00e9n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0754-9189","authenticated-orcid":false,"given":"Sarah L.","family":"Maguire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4069-8020","authenticated-orcid":false,"given":"Nicholas G.","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5230-9865","authenticated-orcid":false,"given":"Preben Bo","family":"Mortensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9384-7988","authenticated-orcid":false,"given":"Laura M.","family":"Thornton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7772-3264","authenticated-orcid":false,"given":"Cynthia M.","family":"Bulik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5369-6502","authenticated-orcid":false,"given":"Laura M.","family":"Huckins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2022,4,5]]},"reference":[{"key":"S0033291721004554_ref37","doi-asserted-by":"publisher","DOI":"10.3389\/fnbeh.2014.00162"},{"key":"S0033291721004554_ref42","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2653"},{"key":"S0033291721004554_ref52","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.20589"},{"key":"S0033291721004554_ref47","doi-asserted-by":"publisher","DOI":"10.1016\/j.smrv.2016.06.007"},{"key":"S0033291721004554_ref32","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32709"},{"key":"S0033291721004554_ref61","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0397-8"},{"key":"S0033291721004554_ref38","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.11.008"},{"key":"S0033291721004554_ref17","doi-asserted-by":"publisher","DOI":"10.1186\/s13742-015-0047-8"},{"key":"S0033291721004554_ref19","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3760"},{"key":"S0033291721004554_ref39","first-page":"335","article-title":"Circadian rhythm disorders in manic-depressives","volume":"13","author":"Kripke","year":"1978","journal-title":"Biological Psychiatry"},{"key":"S0033291721004554_ref49","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcp1803175"},{"key":"S0033291721004554_ref27","doi-asserted-by":"publisher","DOI":"10.3390\/jcm8111915"},{"key":"S0033291721004554_ref24","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4399"},{"key":"S0033291721004554_ref29","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1420373"},{"key":"S0033291721004554_ref55","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyt.2020.00195"},{"key":"S0033291721004554_ref23","doi-asserted-by":"publisher","DOI":"10.3109\/07420528.2014.906445"},{"key":"S0033291721004554_ref60","doi-asserted-by":"publisher","DOI":"10.1111\/acps.12556"},{"key":"S0033291721004554_ref25","doi-asserted-by":"publisher","DOI":"10.3109\/00365521.2014.923502"},{"key":"S0033291721004554_ref63","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-108X(199712)22:4<339::AID-EAT1>3.0.CO;2-N"},{"key":"S0033291721004554_ref64","doi-asserted-by":"publisher","DOI":"10.1016\/j.critrevonc.2013.07.004"},{"key":"S0033291721004554_ref78","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01507-2019"},{"key":"S0033291721004554_ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2012.07.020"},{"key":"S0033291721004554_ref34","article-title":"Transcriptomic imputation of bipolar disorder and bipolar subtypes reveals 29 novel associated genes","author":"Huckins","year":"2017","journal-title":"BioRxiv"},{"key":"S0033291721004554_ref31","doi-asserted-by":"publisher","DOI":"10.1002\/eat.23481"},{"key":"S0033291721004554_ref3","doi-asserted-by":"publisher","DOI":"10.1126\/science.abf8683"},{"key":"S0033291721004554_ref68","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0439-2"},{"key":"S0033291721004554_ref20","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.2749"},{"key":"S0033291721004554_ref58","doi-asserted-by":"publisher","DOI":"10.1002\/eat.20247"},{"key":"S0033291721004554_ref46","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2016-4367"},{"key":"S0033291721004554_ref8","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0320-8"},{"key":"S0033291721004554_ref56","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1038\/nature13595","article-title":"Biological insights from 108 schizophrenia-associated genetic loci","volume":"511","author":"Ripke","year":"2014","journal-title":"Nature"},{"key":"S0033291721004554_ref62","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-neuro-061010-113810"},{"key":"S0033291721004554_ref76","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2016-2089"},{"key":"S0033291721004554_ref77","doi-asserted-by":"publisher","DOI":"10.1176\/appi.ajp.2019.18091085"},{"key":"S0033291721004554_ref12","doi-asserted-by":"publisher","DOI":"10.1111\/pcn.12857"},{"key":"S0033291721004554_ref33","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-13544-0"},{"key":"S0033291721004554_ref2","doi-asserted-by":"publisher","DOI":"10.1038\/s41386-020-00847-w"},{"key":"S0033291721004554_ref18","doi-asserted-by":"publisher","DOI":"10.1002\/wps.20128"},{"key":"S0033291721004554_ref43","doi-asserted-by":"publisher","DOI":"10.1016\/j.gtc.2018.09.004"},{"key":"S0033291721004554_ref16","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu197"},{"key":"S0033291721004554_ref48","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-5618.2009.00767.x"},{"key":"S0033291721004554_ref74","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002916"},{"key":"S0033291721004554_ref51","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-0327(01)00465-7"},{"key":"S0033291721004554_ref53","doi-asserted-by":"publisher","DOI":"10.1086\/519795"},{"key":"S0033291721004554_ref9","doi-asserted-by":"publisher","DOI":"10.1101\/gr.155192.113"},{"key":"S0033291721004554_ref35","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0364-4"},{"key":"S0033291721004554_ref66","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-017-01261-5"},{"key":"S0033291721004554_ref10","first-page":"446","article-title":"Influence of sleep-wake and circadian rhythm disturbances in psychiatric disorders","volume":"25","author":"Boivin","year":"2000","journal-title":"Journal of Psychiatry and Neuroscience: JPN"},{"key":"S0033291721004554_ref5","doi-asserted-by":"publisher","DOI":"10.1007\/s11920-017-0772-z"},{"key":"S0033291721004554_ref69","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0439-2"},{"key":"S0033291721004554_ref71","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btq340"},{"key":"S0033291721004554_ref72","doi-asserted-by":"publisher","DOI":"10.2196\/14325"},{"key":"S0033291721004554_ref1","doi-asserted-by":"publisher","DOI":"10.1093\/nutrit\/nuw001"},{"key":"S0033291721004554_ref21","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btq126"},{"key":"S0033291721004554_ref54","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0104845"},{"key":"S0033291721004554_ref11","first-page":"3","volume-title":"Handbook of eating disorders and obesity","author":"Bulik","year":"2004"},{"key":"S0033291721004554_ref14","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2014.138"},{"key":"S0033291721004554_ref6","doi-asserted-by":"publisher","DOI":"10.1038\/oby.2009.264"},{"key":"S0033291721004554_ref7","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-03621-1"},{"key":"S0033291721004554_ref28","doi-asserted-by":"publisher","DOI":"10.1111\/jcpp.12958"},{"key":"S0033291721004554_ref36","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2018.10.005"},{"key":"S0033291721004554_ref4","doi-asserted-by":"publisher","DOI":"10.1007\/s11920-016-0728-8"},{"key":"S0033291721004554_ref50","doi-asserted-by":"publisher","DOI":"10.1111\/adb.12880"},{"key":"S0033291721004554_ref57","doi-asserted-by":"publisher","DOI":"10.1038\/nature16549"},{"key":"S0033291721004554_ref22","doi-asserted-by":"publisher","DOI":"10.1176\/appi.ajp.2017.16121402"},{"key":"S0033291721004554_ref80","doi-asserted-by":"publisher","DOI":"10.1002\/eat.23255"},{"key":"S0033291721004554_ref15","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21041484"},{"key":"S0033291721004554_ref26","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3367"},{"key":"S0033291721004554_ref73","article-title":"Exploring the clinical consequences and genetic aetiology of adult weight trajectories","author":"Xu","year":"2021","journal-title":"MedRxiv"},{"key":"S0033291721004554_ref40","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1008185"},{"key":"S0033291721004554_ref44","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-5618.2009.00756.x"},{"key":"S0033291721004554_ref75","first-page":"131","article-title":"Genetics and epigenetics of eating disorders","volume":"5","author":"Yilmaz","year":"2015","journal-title":"Advances in Genomics and Genetics"},{"key":"S0033291721004554_ref30","doi-asserted-by":"publisher","DOI":"10.1038\/s41597-019-0183-6"},{"key":"S0033291721004554_ref45","article-title":"Altered gene expression and PTSD symptom dimensions in world trade center responders","author":"Marchese","year":"2021","journal-title":"MedRxiv"},{"key":"S0033291721004554_ref65","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-017-0137-9"},{"key":"S0033291721004554_ref79","doi-asserted-by":"publisher","DOI":"10.1016\/S2215-0366(15)00356-9"},{"key":"S0033291721004554_ref59","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32548"},{"key":"S0033291721004554_ref41","doi-asserted-by":"publisher","DOI":"10.1159\/000488822"},{"key":"S0033291721004554_ref67","doi-asserted-by":"publisher","DOI":"10.1017\/S0033291712002620"},{"key":"S0033291721004554_ref70","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpsychores.2019.109797"}],"container-title":["Psychological Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0033291721004554","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,21]],"date-time":"2023-04-21T03:12:43Z","timestamp":1682046763000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0033291721004554\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,5]]},"references-count":80,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,4]]}},"alternative-id":["S0033291721004554"],"URL":"https:\/\/doi.org\/10.1017\/s0033291721004554","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2021.02.12.21250941","asserted-by":"object"}]},"ISSN":["0033-2917","1469-8978"],"issn-type":[{"value":"0033-2917","type":"print"},{"value":"1469-8978","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4,5]]},"assertion":[{"value":"Copyright \u00a9 The Author(s), 2022. Published by Cambridge University Press","name":"copyright","label":"Copyright","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (http:\/\/creativecommons.org\/licenses\/by\/4.0\/), which permits unrestricted re-use, distribution and reproduction, provided the original article is properly cited.","name":"license","label":"License","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}