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Study of the association between human leukocyte antigens (HLA) and pemphigus vulgaris in Brazilian patients
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Personen und Körperschaften: | , , , , , , , |
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Titel: |
Study of the association between human leukocyte antigens (HLA) and pemphigus vulgaris in Brazilian patients |
In: | International Journal of Dermatology, 56, 2017, 5, S. 557-562 |
veröffentlicht: |
Wiley
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Umfang: | 557-562 |
ISSN: |
0011-9059 1365-4632 |
DOI: | 10.1111/ijd.13577 |
Zusammenfassung: | <jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>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 <jats:styled-content style="fixed-case">HLA DR</jats:styled-content> and <jats:styled-content style="fixed-case">DQ</jats:styled-content> alleles, has been known since the 1980s. The unique constitution of the Brazilian population favors exploratory genetic studies.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>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. <jats:styled-content style="fixed-case">DNA</jats:styled-content> was extracted from peripheral blood, and <jats:styled-content style="fixed-case">HLA</jats:styled-content> A, B, C, <jats:styled-content style="fixed-case">DR</jats:styled-content>, and <jats:styled-content style="fixed-case">DQ</jats:styled-content> 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 <jats:styled-content style="fixed-case">HLA</jats:styled-content> A, <jats:styled-content style="fixed-case">HLA</jats:styled-content> B, <jats:styled-content style="fixed-case">HLA</jats:styled-content> C, <jats:styled-content style="fixed-case">HLA DRB</jats:styled-content>1, <jats:styled-content style="fixed-case">DQA</jats:styled-content>1, and <jats:styled-content style="fixed-case">HLA DQB</jats:styled-content>1.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>The alleles <jats:styled-content style="fixed-case">HLA</jats:styled-content>‐B*57, <jats:styled-content style="fixed-case">HLA</jats:styled-content>‐C*15, <jats:styled-content style="fixed-case">HLA</jats:styled-content>‐<jats:styled-content style="fixed-case">DRB</jats:styled-content>1*04:02, <jats:styled-content style="fixed-case">HLA</jats:styled-content>‐<jats:styled-content style="fixed-case">DRB</jats:styled-content>1*08:04, <jats:styled-content style="fixed-case">HLA</jats:styled-content>‐<jats:styled-content style="fixed-case">DRB</jats:styled-content>1*14:01, <jats:styled-content style="fixed-case">DQA</jats:styled-content>1*03:01, <jats:styled-content style="fixed-case">DQB</jats:styled-content>1*03:02, and <jats:styled-content style="fixed-case">DQB</jats:styled-content>1*05:03 were associated with susceptibility. Alleles <jats:styled-content style="fixed-case">HLA DRB</jats:styled-content>1*04:02 and <jats:styled-content style="fixed-case">HLA</jats:styled-content>‐<jats:styled-content style="fixed-case">DRB</jats:styled-content>1*14:01 and their respective haplotypes <jats:styled-content style="fixed-case">DRB</jats:styled-content>1*04‐<jats:styled-content style="fixed-case">DQA</jats:styled-content>1*03:01‐<jats:styled-content style="fixed-case">DQB</jats:styled-content>1*03:02, and <jats:styled-content style="fixed-case">DRB</jats:styled-content>1*14‐<jats:styled-content style="fixed-case">DQA</jats:styled-content>1*01:01‐<jats:styled-content style="fixed-case">DQB</jats:styled-content>1*05:03 conferred a risk of the disease.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>The <jats:styled-content style="fixed-case">DRB</jats:styled-content>1*04:02 and <jats:styled-content style="fixed-case">DQB</jats:styled-content>1*05:03 alleles are associated with pemphigus vulgaris in our study as well as in various populations. The association with <jats:styled-content style="fixed-case">HLA</jats:styled-content>‐<jats:styled-content style="fixed-case">DRB</jats:styled-content>1*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 <jats:styled-content style="fixed-case">HLA</jats:styled-content>‐B*57 and pemphigus vulgaris is reported for the first time in the present study.</jats:p></jats:sec> |
Format: | E-Article |
Quelle: | Wiley (CrossRef) |
Sprache: | Englisch |