HLA-DM gene polymorphisms in atopic dermatitis
S Kuwata1, M Yanagisawa, H Nakagawa
1Department of Transfusion Medicine and Immunohematology, Faculty of Medicine, University of Tokyo, Japan.
Abstract:
HLA-DM molecules are involved in the antigen-processing pathway of HLA class II-restricted antigen presentation. We investigated polymorphisms of HLA-DM genes in atopic dermatitis by using the polymerase chain reaction-restriction-fragment length polymorphism method to examine a possible contribution of these genes to the pathogenesis of atopic dermatitis. Genomic DNA was extracted from 37 Japanese patients with atopic dermatitis and 52 control subjects. After polymerase chain reaction amplification of the polymorphic third exon of DMA and DMB genes, amplified products were digested with restriction endonucleases to determine HLA-DM alleles. FokI, HinfI, AciI and SfaNI were used for DMA; HhaI, BsrI, ApaLI, and Bsp1286I for the DMB gene. We identified three DMA alleles and also three DMB alleles. One of 37 patients possessed the DMA*0103 allele, which has been reported as a rare allele in Caucasian populations. Any DMA and DMB alleles were not increased in the patients. The DMA*0102 allele was estimated to constitute a haplotype with DRB1*1201/DQB1*0301 and DRB1*0901/DQB1*0301 in a Japanese population. HLA-DM genes are not considered to contribute primarily to the susceptibility of atopic dermatitis. Further investigation of the functional roles of HLA-DM gene polymorphisms will be useful for a better understanding of susceptibility loci in HLA class II-associated disease.
Insights
Human Leukocyte Antigen (HLA)-DM gene polymorphisms were studied in Japanese atopic dermatitis patients. The study found no significant association, suggesting HLA-DM genes are not primary contributors to atopic dermatitis susceptibility.
Area of Science:
- Immunogenetics
- Molecular Biology
- Dermatology
Background:
- Human Leukocyte Antigen (HLA)-DM molecules play a crucial role in antigen presentation for HLA class II-restricted immune responses.
- Atopic dermatitis is a complex inflammatory skin disease with a suspected genetic component within the HLA class II region.
Purpose of the Study:
- To investigate the association between polymorphisms in Human Leukocyte Antigen (HLA)-DM genes (DMA and DMB) and the pathogenesis of atopic dermatitis in a Japanese population.
- To determine if specific HLA-DM alleles or haplotypes contribute to atopic dermatitis susceptibility.
Main Methods:
- Genomic DNA was extracted from 37 Japanese patients with atopic dermatitis and 52 healthy controls.
- Polymerase chain reaction (PCR) amplification of polymorphic exons of DMA and DMB genes was performed.
- PCR products were analyzed using restriction fragment length polymorphism (RFLP) with specific restriction endonucleases (FokI, HinfI, AciI, SfaNI for DMA; HhaI, BsrI, ApaLI, Bsp1286I for DMB) to identify HLA-DM alleles.
Main Results:
- Three DMA alleles and three DMB alleles were identified in the study cohort.
- No significant increase or association was found for any specific DMA or DMB alleles in atopic dermatitis patients compared to controls.
- One patient carried the rare DMA*0103 allele, previously reported in Caucasian populations.
- The DMA*0102 allele was found to form a haplotype with DRB1*1201/DQB1*0301 and DRB1*0901/DQB1*0301 in the Japanese population.
Conclusions:
- The study concludes that Human Leukocyte Antigen (HLA)-DM gene polymorphisms are unlikely to be a primary factor in the susceptibility to atopic dermatitis.
- Further research into the functional significance of HLA-DM gene variations may offer insights into HLA class II-associated diseases.
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