Ann Dermatol.  2018 Feb;30(1):8-12. 10.5021/ad.2018.30.1.8.

HLA-C*17, DQB1*03:01, DQA1*01:03 and DQA1*05:05 Alleles Associated to Bullous Pemphigoid in Brazilian Population

• Chagury AA
• Sennes LU
• Gil JM
• Kalil J
• Rodrigues
• Rosales CB
• Miziara ID

• KMID: 2399748
• DOI: http://doi.org/10.5021/ad.2018.30.1.8

Abstract

BACKGROUND
Bullous pemphigoid (BP) is an autoimmune disease with bullous vesicles and an incidence of 0.2 to 1.4 per 100,000 inhabitants. Many studies have been published demonstrating the association of pemphigoid with HLA class II system alleles in different populations, however there are no data on the BP, one of the most heterogeneous in the world.
OBJECTIVE
To typify HLA alleles in Brazilians with Bullous pemphigoid.
METHODS
The study group included 17 Brazilian patients with a confirmed diagnosis of BP from a hospital in Sao Paulo city, southeast Brazil. DNA was extracted from peripheral blood using Qiagen kits and HLA A, B, C, DR and DQ typing was performed using polymerase chain reaction. The control group was composed of a database of 297 deceased donors from the city of Sao Paulo. The statistical significance level was adjusted using the Bonferroni correction depending on the phenotypic frequencies evaluated for HLA class I (A, B and C) and class II (DRB1, DQB1 and DQA1).
RESULTS
Our findings show that alleles HLA C*17, DQB1*03:01, DQA1*01:03 and DQA1*05:05 are associated with the onset of the disease in the Brazilian population, with relative risks of 8.31 (2.46 to 28.16), 3.76 (1.81 to 7.79), 3.57 (1.53 to 8.33), and 4.02 (1.87 to 8.64), respectively (p < 0.005).
CONCLUSION
Our data indicate that Brazilian patients with BP present the same genetic predisposition linked to HLA-DQB1*03:01 previously reported in Caucasian and Iranian individuals and our study introduces three new alleles (C*17, DQA1*01:03 and DQA1*05:05) involved in the pathophysiology of BP.

Keyword

Genes; MHC class I; Genes; MHC class II; HLA antigens; Pemphigoid; bullous; Polymerase chain reaction

MeSH Terms

Alleles*
Autoimmune Diseases
Brazil
Diagnosis
DNA
Genetic Predisposition to Disease
HLA Antigens
Humans
Incidence
Pemphigoid, Bullous*
Polymerase Chain Reaction
Tissue Donors
DNA
HLA Antigens

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