Clinical Trials Study
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World J Clin Cases. Oct 16, 2014; 2(10): 541-545
Published online Oct 16, 2014. doi: 10.12998/wjcc.v2.i10.541
HLA antigens in individuals with down syndrome and alopecia areata
Juliany L Estefan, Juliana C Oliveira, Eliane D Abad, Simone B Saintive, Luis Cristóvão MS Porto, Marcia Ribeiro
Juliany L Estefan, Eliane D Abad, Simone B Saintive, Pediatric Dermatology Service, Martagão Gesteira Pediatric Institute, Federal University of Rio de Janeiro, Rio de Janeiro, RJ 21941-901, Brazil
Juliany L Estefan, Marcia Ribeiro, Medical Genetics Service, Martagão Gesteira Pediatric Institute, Federal University of Rio de Janeiro, Rio de Janeiro, RJ 21941-901, Brazil
Juliana C Oliveira, Luis Cristóvão MS Porto, Histocompatibility and Cryopreservation-HLA Laboratory, State University of Rio de Janeiro, Policlínica Piquet Carneiro/UERJ, Rio de Janeiro, RJ 21941-901, Brazil
Author contributions: Estefan JL contributed to research design, analysis and interpretation of data, drafting the paper and revising it critically; Oliveira JC, Abad ED and Saintive SB contributed to drafting the paper and revising it critically; Porto LCMS contributed to substantial contributions to research conception and design; drafting the paper and revising it critically; Ribeiro M contributed to substantial contributions to research conception and design, analysis and interpretation of data, drafting the paper and revising it critically; all authors contributed to final approval of the version to be published.
Correspondence to: Juliany L Estefan, MD, Msc, Medical Genetics Service, Martagão Gesteira Pediatrics Institute, Federal University of Rio de Janeiro, Rua Bruno Lobo, 50, Cidade Universitária, Ilha do Fundão, Rio de Janeiro, RJ 21941-901, Brazil. ju_estefan@yahoo.com.br
Telephone: +55-21-25626148
Received: April 2, 2014
Revised: June 3, 2014
Accepted: August 27, 2014
Published online: October 16, 2014
Processing time: 196 Days and 19.3 Hours
Abstract

AIM: To describe human leukocyte antigen (HLA) alleles in individuals with Down syndrome and alopecia areata.

METHODS: A cross-sectional study was conducted, which evaluated 109 individuals. Ten with down syndrome (DS) and alopecia areata (AA), ten with DS without AA and ten with AA without DS, and their families. The individuals were matched by gender and age. The following data were computed: gender, age, ethnic group, karyotype, clinical presentation and family history of alopecia areata. Descriptive analysis: measures of central tendency and frequency distribution. Inferential analysis: Fisher’s exact test to compare categorical data between the three groups and Kruskal-Wallis ANOVA test for numerical data.

RESULTS: Seventy per cent of evaluated individuals in the DS and AA group were male; presented mean age of 18.6 (SD ± 7.2) years and 70% were Caucasian. We observed involvement of the scalp, with a single lesion in 10% and multiple in 90% of subjects. It was observed that there is no significant difference in the frequency distributions of the alleles HLA loci A, B, C, DRB1 and DQB1 of subjects studied. However, according to Fisher’s exact test, there is a trend (P = 0.089) of DS group to present higher proportions of HLA-A 36 and HLA-B 15 than the AA group and AA and DS group.

CONCLUSION: There was a tendency for the DS group, to present proportion of HLA-A 36 and HLA-B 15 higher than the AA group and group of individuals with AA and DS. However, there was no significant difference in the frequency distribution of the alleles.

Keywords: Down syndrome; Alopecia areata; Human leukocyte antigen antigens; Immunology; Genetic

Core tip: The prevalence of alopecia areata (AA) in down syndrome (DS) individuals ranges from 1% to 11%, higher than in general population. The frequency distribution of human leukocyte antigen alleles in the groups was heterogeneous; there was a tendency of alleles A-36 and B-15 in DS group. The cause of AA in DS remains unknown.