A large familial cluster and sporadic cases of frontal fibrosing alopecia in Brazil reinforce known human leucocyte antigen (HLA) associations and indicate new HLA susceptibility haplotypes

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dc.contributor.authorRamos, P. M. [UNESP]
dc.contributor.authorGarbers, L. E.F.M. [UNESP]
dc.contributor.authorSilva, N. S.B. [UNESP]
dc.contributor.authorCastro, C. F.B. [UNESP]
dc.contributor.authorAndrade, H. S. [UNESP]
dc.contributor.authorSouza, A. S. [UNESP]
dc.contributor.authorCastelli, E. C. [UNESP]
dc.contributor.authorMiot, H. A. [UNESP]
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionCentro Universitário Sudoeste Paulista
dc.date.accessioned2020-12-12T02:13:13Z
dc.date.available2020-12-12T02:13:13Z
dc.date.issued2020-01-01
dc.description.abstractBackground: Frontal fibrosing alopecia (FFA) is a lymphocytic scarring alopecia whose worldwide incidence is rising. Environmental triggers combined with genetic predisposition represent one of the current hypotheses in FFA aetiology. Familial clusters are opportunities to investigate the genetic basis of diseases. Objectives: Assess human leucocyte antigen (HLA) genetic variability in a Brazilian sample of a large familial cluster (six sisters and one daughter) with FFA, unnafected familiar members and sporadic cases of FFA. Methods: We addressed the HLA-A, HLA-B, HLA-C, HLA-G and HLA-E genetic variability in this family and in seven sporadic FFA cases, comparing allele frequencies with those reported for the São Paulo State from Brazil. Results: Two susceptibility haplotypes, C*17:01:01:02/B*42:01:01:01 and C*07:02:01:03/B*07:02:01:01, were identified among familial cases and also in sporadic cases. The first haplotype is rare among Brazilians, and it was not previously reported as being associated with FFA. Both alleles were found in some different unaffected familiars, what emphasizes the role of environmental triggers in disease development. HLA-A, HLA-G and HLA-E genes were not associated to familiar nor FFA sporadic cases. Conclusion: The identification of susceptibility haplotypes in FFA reinforces the genetic predisposition to the disease.en
dc.description.affiliationDepartamento de Dermatologia e Radioterapia Universidade Estadual Paulista - UNESP
dc.description.affiliationDepartamento de Patologia Universidade Estadual Paulista - UNESP
dc.description.affiliationCentro Universitário Sudoeste Paulista
dc.description.affiliationLaboratório de Genética Molecular e Bioinformática Unidade de Pesquisa Experimental (Unipex) Universidade Estadual Paulista - UNESP
dc.description.affiliationInstituto de Biociências Universidade Estadual Paulista - UNESP
dc.description.affiliationUnespDepartamento de Dermatologia e Radioterapia Universidade Estadual Paulista - UNESP
dc.description.affiliationUnespDepartamento de Patologia Universidade Estadual Paulista - UNESP
dc.description.affiliationUnespLaboratório de Genética Molecular e Bioinformática Unidade de Pesquisa Experimental (Unipex) Universidade Estadual Paulista - UNESP
dc.description.affiliationUnespInstituto de Biociências Universidade Estadual Paulista - UNESP
dc.identifierhttp://dx.doi.org/10.1111/jdv.16629
dc.identifier.citationJournal of the European Academy of Dermatology and Venereology.
dc.identifier.doi10.1111/jdv.16629
dc.identifier.issn1468-3083
dc.identifier.issn0926-9959
dc.identifier.scopus2-s2.0-85087293803
dc.identifier.urihttp://hdl.handle.net/11449/200680
dc.language.isoeng
dc.relation.ispartofJournal of the European Academy of Dermatology and Venereology
dc.sourceScopus
dc.titleA large familial cluster and sporadic cases of frontal fibrosing alopecia in Brazil reinforce known human leucocyte antigen (HLA) associations and indicate new HLA susceptibility haplotypesen
dc.typeArtigo
unesp.author.orcid0000-0002-1561-414X[1]
unesp.author.orcid0000-0001-5867-1454[2]
unesp.author.orcid0000-0001-5511-8426[3]
unesp.author.orcid0000-0002-8010-4496[4]
unesp.author.orcid0000-0001-5090-7127[5]
unesp.author.orcid0000-0002-6853-1559[6]
unesp.author.orcid0000-0003-2142-7196[7]
unesp.author.orcid0000-0002-2596-9294[8]
unesp.campusUniversidade Estadual Paulista (Unesp), Faculdade de Medicina, Botucatupt
unesp.departmentDermatologia e Radioterapia - FMBpt

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Botucatu - FMB - Faculdade de Medicina