RGD Reference Report - Study of the association between human leukocyte antigens (HLA) and pemphigus vulgaris in Brazilian patients. - Rat Genome Database

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Study of the association between human leukocyte antigens (HLA) and pemphigus vulgaris in Brazilian patients.

Authors: Gil, Julio M  Weber, Raimar  Rosales, Claudia B  Rodrigues, Helcio  Sennes, Luiz U  Kalil, Jorge  Chagury, Azis  Miziara, Ivan D 
Citation: Gil JM, etal., Int J Dermatol. 2017 May;56(5):557-562. doi: 10.1111/ijd.13577. Epub 2017 Feb 15.
RGD ID: 14747041
Pubmed: PMID:28197992   (View Abstract at PubMed)
DOI: DOI:10.1111/ijd.13577   (Journal Full-text)


BACKGROUND: Pemphigus vulgaris is a mucocutaneous blistering autoimmune disease that manifests as painful blisters or erosions on the skin and/or mucosal surfaces. IgG autoantibodies target desmoglein, playing a major role in disease pathogenesis. Genetic predisposal to pemphigus vulgaris, especially the HLA DR and DQ alleles, has been known since the 1980s. The unique constitution of the Brazilian population favors exploratory genetic studies.
METHODS: The study group included 51 patients with a confirmed diagnosis of pemphigus vulgaris from a tertiary hospital in Sao Paulo city, Sao Paulo, southeast Brazil. DNA was extracted from peripheral blood, and HLA A, B, C, DR, and DQ typing was performed. The control group was composed of a database of 297 deceased donors from the city of São Paulo typed with the same method. The statistical significance level was adjusted using the Bonferroni correction depending on the phenotypic frequencies evaluated for HLA A, HLA B, HLA C, HLA DRB1, DQA1, and HLA DQB1.
RESULTS: The alleles HLA-B*57, HLA-C*15, HLA-DRB1*04:02, HLA-DRB1*08:04, HLA-DRB1*14:01, DQA1*03:01, DQB1*03:02, and DQB1*05:03 were associated with susceptibility. Alleles HLA DRB1*04:02 and HLA-DRB1*14:01 and their respective haplotypes DRB1*04-DQA1*03:01-DQB1*03:02, and DRB1*14-DQA1*01:01-DQB1*05:03 conferred a risk of the disease.
CONCLUSIONS: The DRB1*04:02 and DQB1*05:03 alleles are associated with pemphigus vulgaris in our study as well as in various populations. The association with HLA-DRB1*08:04 in our study was confirmed to be specific to this allele and not to linkage disequilibrium to any adjacent gene. The association between HLA-B*57 and pemphigus vulgaris is reported for the first time in the present study.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
pemphigus vulgaris  ISOHLA-DQB1 (Homo sapiens)14747041; 14747041 RGD 
pemphigus vulgaris  IAGP 14747041 RGD 

Objects Annotated

Genes (Rattus norvegicus)
RT1-Bb  (RT1 class II, locus Bb)

Genes (Mus musculus)
H2-Ab1  (histocompatibility 2, class II antigen A, beta 1)

Genes (Homo sapiens)
HLA-DQB1  (major histocompatibility complex, class II, DQ beta 1)


Additional Information