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Published on: May 30, 2020
[Human leukocyte antigen genes to genetic predisposition in diffuse panbronchiolitis]
1Department of Respiratory Medicine, Shanghai Sixth People' s Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200233, China.
Summary
Human leukocyte antigen (HLA) gene variations influence diffuse panbronchiolitis (DPB) susceptibility. HLA-A11 is associated with increased risk, while HLA-A2 may offer protection against DPB.
Area of Science:
- Immunogenetics
- Pulmonary Medicine
- Genetic Epidemiology
Background:
- Diffuse panbronchiolitis (DPB) is a chronic inflammatory lung disease with unknown etiology.
- Genetic factors are suspected to play a role in DPB susceptibility.
- Human Leukocyte Antigen (HLA) genes are crucial for immune response and are often implicated in autoimmune and inflammatory conditions.
Purpose of the Study:
- To investigate the association between specific human leukocyte antigen (HLA) gene polymorphisms and genetic predisposition to diffuse panbronchiolitis (DPB).
- To identify potential HLA genetic markers for DPB susceptibility.
Main Methods:
- Analysis of HLA-A, HLA-B, and HLA-DR loci using oligonucleotide microarray in 24 DPB patients and 53 healthy controls.
- Assessment of disease association using the chi-square test.
- Calculation of odds ratios (OR) to determine the strength of association.
Main Results:
- A significantly decreased frequency of HLA-A2 was observed in DPB patients (20.83%) compared to controls (66.04%), indicating a negative association (OR = 0.12).
- A significantly increased frequency of HLA-A11 was found in DPB patients (58.33%) versus controls (26.42%), suggesting a positive association (OR = 3.9).
- While HLA-B loci frequencies were higher in DPB patients, no single HLA-B allele showed a significant association. HLA-DRB5 * 010/020 frequency was increased in DPB patients, though a small sample size limits definitive conclusions.
Conclusions:
- The study suggests that susceptibility genes for DPB are located within the HLA class I region, specifically between the A and B loci.
- HLA-A2 may act as a protective genetic factor, potentially explaining the lower incidence of DPB in certain populations like the Chinese.
- Further research with larger cohorts is warranted to confirm findings, particularly for HLA-DR associations.
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