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Human leukocyte antigen (HLA)-DRB1 allele polymorphisms and systemic sclerosis
Yanzhen Xu1,2, Nanfang Mo2, Zhiwen Jiang2
1Department of Pathophysiology, Guangxi Medical University, Nanning, Guangxi, China.
Modern Rheumatology
|September 4, 2018
Summary
Certain human leukocyte antigen (HLA) alleles, specifically DRB1*04:03, DRB1*08, DRB1*11, and DRB1*11:04, are linked to an increased risk of systemic sclerosis (SSc). Other HLA-DRB1 alleles show a protective effect in specific populations.
Area of Science:
- Immunogenetics
- Rheumatology
- Human Leukocyte Antigen (HLA) research
Background:
- Human leukocyte antigen (HLA) genes are crucial for immune regulation.
- Previous studies on the association between HLA-DRB1 allele polymorphisms and systemic sclerosis (SSc) have yielded controversial results.
- A comprehensive meta-analysis is needed to clarify these associations.
Purpose of the Study:
- To perform a meta-analysis assessing the association between HLA-DRB1 alleles and the risk of developing systemic sclerosis (SSc).
- To investigate the relationship between specific SSc-related autoantibodies and HLA-DRB1 alleles.
Main Methods:
- Systematic search of electronic databases for relevant case-control studies.
- Inclusion of 11 case-control studies comprising 3268 SSc cases and 5548 controls.
- Utilized odds ratios (ORs) and 95% confidence intervals to evaluate the strength of associations.
Main Results:
- Four HLA-DRB1 alleles (DRB1*04:03, DRB1*08, DRB1*11, DRB1*11:04) were associated with an increased risk of SSc.
- Five alleles (DRB1*07, DRB1*11:01, DRB1*13, DRB1*13:01, DRB1*14) demonstrated a protective effect.
- Specific alleles showed ethnic variations in risk and protection; DRB1*11:04 was linked to higher SSc risk in Caucasians, while DRB1*13:02 was protective in Asians.
- DRB1*11:04 was more frequent in ATA-positive SSc patients.
Conclusions:
- The HLA-DRB1 alleles DRB1*04:03, DRB1*08, DRB1*11, and DRB1*11:04 are significantly associated with an increased risk of systemic sclerosis.
- HLA-DRB1*11 and DRB1*11:04 are also associated with anti-tissue antibody (ATA) status in SSc patients.
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