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
| Autor: | Hélio Amante Miot, Andreia S. Souza, Luiz Eduardo Fabricio de Melo Garbers, Paulo Müller Ramos, Heloisa S. Andrade, Nayane S. B. Silva, Erick C. Castelli, Camila Ferreira Bannwart Castro |
|---|---|
| Přispěvatelé: | Universidade Estadual Paulista (Unesp), Centro Universitário Sudoeste Paulista |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Dermatology Human leukocyte antigen Scarring alopecia 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine medicine Genetic predisposition Humans Genetic Predisposition to Disease Genetic variability Allele Allele frequency Alleles business.industry Frontal fibrosing alopecia Haplotype Histocompatibility Antigens Class II Lichen Planus Alopecia medicine.disease 030104 developmental biology Infectious Diseases Haplotypes Immunology business Brazil |
| Zdroj: | Scopus Repositório Institucional da UNESP Universidade Estadual Paulista (UNESP) instacron:UNESP |
| ISSN: | 1468-3083 |
| Popis: | Made available in DSpace on 2020-12-12T02:13:13Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-01-01 Background: 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. Departamento de Dermatologia e Radioterapia Universidade Estadual Paulista - UNESP Departamento de Patologia Universidade Estadual Paulista - UNESP Centro Universitário Sudoeste Paulista Laboratório de Genética Molecular e Bioinformática Unidade de Pesquisa Experimental (Unipex) Universidade Estadual Paulista - UNESP Instituto de Biociências Universidade Estadual Paulista - UNESP Departamento de Dermatologia e Radioterapia Universidade Estadual Paulista - UNESP Departamento de Patologia Universidade Estadual Paulista - UNESP Laboratório de Genética Molecular e Bioinformática Unidade de Pesquisa Experimental (Unipex) Universidade Estadual Paulista - UNESP Instituto de Biociências Universidade Estadual Paulista - UNESP |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text