{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,26]],"date-time":"2025-07-26T09:14:12Z","timestamp":1753521252396,"version":"3.40.5"},"reference-count":30,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,1,17]],"date-time":"2019-01-17T00:00:00Z","timestamp":1547683200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Aust J Dermatology"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background\/Objectives<\/jats:title><jats:p>The aetiology of frontal fibrosing alopecia is unknown, and its genetic aspect remains uncharacterised. The aim of this report is to elucidate if major histocompatibility complex is associated with familial frontal fibrosing alopecia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A case\u2013control study was performed of 13 patients with frontal fibrosing alopecia belonging to six families. Their human leukocyte antigen profiles were compared to the data of 636 healthy controls without frontal fibrosing alopecia. Patients underwent high\u2010resolution genomic typing for human leukocyte antigen class I and <jats:styled-content style=\"fixed-case\">II<\/jats:styled-content> loci by <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">SSO<\/jats:styled-content> for Luminex. In addition, <jats:italic><jats:styled-content style=\"fixed-case\">CYP<\/jats:styled-content>21A2<\/jats:italic> gene (major histocompatibility complex class <jats:styled-content style=\"fixed-case\">III<\/jats:styled-content>) mutations were detected by <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">SSO<\/jats:styled-content> on strips.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>61.5% of patients shared <jats:italic><jats:styled-content style=\"fixed-case\">CYP<\/jats:styled-content>21A2<\/jats:italic> gene p.V281L linked to the F16A human leukocyte antigen class I haplotype (<jats:italic><jats:styled-content style=\"fixed-case\">HLA<\/jats:styled-content>\u2010A*33:01; B*14:02; C*08:02; P<\/jats:italic>c\u00a0&lt;\u00a00.000001). The patients F16A\u2010negative shared other human leukocyte antigen class I haplotypes: Y16A (3\/13) and S26 (2\/13).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic><jats:styled-content style=\"fixed-case\">CYP<\/jats:styled-content>21A2<\/jats:italic> gene p.V281L mutation can be used as a genetic marker for susceptibility to familial frontal fibrosing alopecia. Both the linkage of the mutation to F16A and the fact that F16A\u2010negative patients share other human leukocyte antigen class I haplotype, point to an antigen\u2010driven mechanism in susceptible patients with these haplotypes.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ajd.12985","type":"journal-article","created":{"date-parts":[[2019,1,18]],"date-time":"2019-01-18T04:49:22Z","timestamp":1547786962000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Study of Human Leukocyte Antigen (<scp>HLA<\/scp>) in 13 cases of familial frontal fibrosing alopecia: <i><scp>CYP<\/scp>21A2<\/i> gene p.V281L mutation from congenital adrenal hyperplasia linked to <scp>HLA<\/scp> class I haplotype <i><scp>HLA<\/scp><\/i>\u2010<i>A*33:01<\/i>;<i> B*14:02; C*08:02<\/i> as a genetic marker"],"prefix":"10.1111","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3471-4154","authenticated-orcid":false,"given":"Mar\u00eda 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