{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T21:29:19Z","timestamp":1770326959454,"version":"3.49.0"},"reference-count":39,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,3,23]],"date-time":"2017-03-23T00:00:00Z","timestamp":1490227200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005306","name":"Alfried Krupp von Bohlen und Halbach-Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005306","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["DFG, BE 2346\/5\u20101"],"award-info":[{"award-number":["DFG, BE 2346\/5\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2017,6]]},"abstract":"Abstract<\/jats:title>Alopecia areata (AA<\/jats:styled-content>) is a common hair loss disorder of autoimmune aetiology, which often results in pronounced psychological distress. Understanding of the pathophysiology of AA<\/jats:styled-content> is increasing, due in part to recent genetic findings implicating common variants at several genetic loci. To date, no study has investigated the contribution of copy number variants (CNV<\/jats:styled-content>s) to AA<\/jats:styled-content>, a prominent class of genomic variants involved in other autoimmune disorders. Here, we report a genomewide\u2010 and a candidate gene\u2010focused CNV<\/jats:styled-content> analysis performed in a cohort of 585 patients with AA<\/jats:styled-content> and 1340 controls of C<\/jats:styled-content>entral E<\/jats:styled-content>uropean origin. A nominally significant association with AA<\/jats:styled-content> was found for CNV<\/jats:styled-content>s in the following five chromosomal regions: 4q35.2, 6q16.3, 9p23, 16p12.1 and 20p12.1. The most promising finding was a 342.5\u2010kb associated region in 6q16.3 (duplications in 4\/585 patients; 0\/1340 controls). The duplications spanned the genes MCHR<\/jats:styled-content>2<\/jats:italic> and MCHR<\/jats:styled-content>2\u2010AS<\/jats:styled-content>1<\/jats:italic>, implicated in melanin\u2010concentrating hormone (MCH<\/jats:styled-content>) signalling. These genes have not been implicated in previous studies of AA<\/jats:styled-content> pathogenesis. However, previous research has shown that MCHR<\/jats:styled-content>2<\/jats:italic> affects the scale colour of barfin flounder fish via the induction of melanin aggregation. AA<\/jats:styled-content> preferentially affects pigmented hairs, and the hair of patients with AA<\/jats:styled-content> frequently shows a change in colour when it regrows following an acute episode of AA<\/jats:styled-content>. This might indicate a relationship between AA<\/jats:styled-content>, pigmentation and MCH<\/jats:styled-content> signalling. In conclusion, the present results provide suggestive evidence for the involvement of duplications in MCHR<\/jats:styled-content>2<\/jats:italic> in AA<\/jats:styled-content> pathogenesis.<\/jats:p>","DOI":"10.1111\/exd.13123","type":"journal-article","created":{"date-parts":[[2016,6,16]],"date-time":"2016-06-16T08:41:31Z","timestamp":1466066491000},"page":"536-541","source":"Crossref","is-referenced-by-count":27,"title":["Genomewide analysis of copy number variants in alopecia areata in a C<\/scp>entral E<\/scp>uropean cohort reveals association with MCHR<\/scp>2<\/i>"],"prefix":"10.1111","volume":"26","author":[{"given":"Johannes","family":"Fischer","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franziska","family":"Degenhardt","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"},{"name":"Department of Genomics Life & Brain Center University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Hofmann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"},{"name":"Department of Genomics Life & Brain Center University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silke","family":"Redler","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F. Buket","family":"Basmanav","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefanie","family":"Heilmann\u2010Heimbach","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"},{"name":"Department of Genomics Life & Brain Center University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Hanneken","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of D\u00fcsseldorf D\u00fcsseldorf Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathrin A.","family":"Giehl","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Munich Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans","family":"Wolff","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Munich Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne","family":"Moebus","sequence":"additional","affiliation":[{"name":"Institute of Medical Informatics, Biometry and Epidemiology University Duisburg\u2010Essen Duisburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roland","family":"Kruse","sequence":"additional","affiliation":[{"name":"Dermatological Practice Paderborn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerhard","family":"Lutz","sequence":"additional","affiliation":[{"name":"Hair & Nail Dermatological Practice Wesseling Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bettina","family":"Blaumeiser","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University and University Hospital of Antwerp Antwerp Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markus","family":"B\u00f6hm","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of M\u00fcnster M\u00fcnster Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalie","family":"Garcia Bartels","sequence":"additional","affiliation":[{"name":"Clinical Research Center for Hair and Skin Science Department of Dermatology and Allergy Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrike","family":"Blume\u2010Peytavi","sequence":"additional","affiliation":[{"name":"Clinical Research Center for Hair and Skin Science Department of Dermatology and Allergy Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynn","family":"Petukhova","sequence":"additional","affiliation":[{"name":"Department of Dermatology Columbia University New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela M.","family":"Christiano","sequence":"additional","affiliation":[{"name":"Department of Dermatology Columbia University New York NY USA"},{"name":"Department of Genetics and Development Columbia University New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markus M.","family":"N\u00f6then","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"},{"name":"Department of Genomics Life & Brain Center University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5024-3623","authenticated-orcid":false,"given":"Regina C.","family":"Betz","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,3,23]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.4065\/70.7.628"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2013.464"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/jidsymp.2013.5"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(98)70499-2"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2005.12.007"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms6966"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2012.129"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09114"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1089\/ars.2011.4013"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/505915"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature08979"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds039"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/518257"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.313"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.127"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2009.385"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.342"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2005-858226"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1159\/000090694"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1067\/mhj.2002.123579"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32034"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkm076"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.6861907"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229102"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1086\/519795"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt958"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm241"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3092"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.178"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.909"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2013-1738"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygcen.2012.09.026"},{"key":"e_1_2_8_34_1","first-page":"516508","volume":"2014","author":"Rogozin IB","year":"2014","journal-title":"Genet Res Int"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1103442"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.it.2004.09.014"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1111\/exd.12209"},{"key":"e_1_2_8_38_1","first-page":"541","volume":"66","author":"Paus R","year":"1993","journal-title":"Yale J Biol Med"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.185"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529-8817.2005.00175.x"}],"container-title":["Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fexd.13123","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fexd.13123","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/exd.13123","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,12]],"date-time":"2023-09-12T00:10:44Z","timestamp":1694477444000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/exd.13123"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,23]]},"references-count":39,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["10.1111\/exd.13123"],"URL":"https:\/\/doi.org\/10.1111\/exd.13123","archive":["Portico"],"relation":{},"ISSN":["0906-6705","1600-0625"],"issn-type":[{"value":"0906-6705","type":"print"},{"value":"1600-0625","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,23]]}}}