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Author Spotlight: Evaluating Traditional Chinese Therapy for Ankylosing Spondylitis in Mice
Published on: October 27, 2023
HLA class I and II alleles in susceptibility to ankylosing spondylitis
John D Reveille1, Xiaodong Zhou2, MinJae Lee3
1Division of Rheumatology and Clinical Immunogenetics, McGovern Medical School at The University of Texas Health Science Center, Houston, Texas, USA john.d.reveille@uth.tmc.edu.
Insights
This study reveals that human leukocyte antigen (HLA) alleles beyond HLA-B*27 are associated with ankylosing spondylitis (AS) susceptibility across diverse ancestries. These findings highlight additional genetic factors contributing to AS development.
Area of Science:
- Immunogenetics
- Rheumatology
- Human Genetics
Background:
- Ankylosing spondylitis (AS) is a chronic inflammatory disease primarily affecting the axial skeleton.
- The human leukocyte antigen (HLA) B*27 allele is strongly associated with AS, but its role in disease pathogenesis is not fully understood.
- Understanding the genetic contribution of other HLA alleles is crucial for a comprehensive view of AS etiology.
Purpose of the Study:
- To investigate the association of various HLA class I and class II alleles with ankylosing spondylitis (AS).
- To analyze these associations across three distinct ethnic cohorts: European, Asian, and African ancestry.
- To identify HLA alleles, beyond HLA-B*27, that contribute to AS predisposition.
Main Methods:
- Genotyping of HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DQB1, and HLA-DPB1 alleles in AS patients and controls from diverse ethnic groups.
- Utilized case-control analyses, including analyses of HLA-B*27-negative AS patients.
- Employed logistic regression and relative predispositional effects (RPE) analyses to control for the influence of HLA-B*27.
Main Results:
- In HLA-B*27-negative AS patients of European ancestry, significant associations were observed with HLA-A*29, HLA-B*38, HLA-B*49, HLA-B*52, HLA-DRB1*11, and HLA-DPB1*03:01.
- Negative associations were found with HLA-B*07, HLA-B*57, HLA-DRB1*15:01, HLA-DQB1*02:01, and HLA-DQB1*06:02 in the same cohort.
- Associations with HLA-B*14 and HLA-B*40 were identified using RPE analysis. Increased frequency of HLA-B*40:01 and decreased frequency of HLA-B*07 were noted in Han Chinese and African-American AS patients.
Conclusions:
- This study, analyzing the largest cohorts of AS patients to date across three ethnic groups, confirms that HLA alleles other than HLA-B*27 play a role in AS predisposition.
- Identified specific HLA class I and II alleles associated with AS susceptibility independent of HLA-B*27.
- These findings expand our understanding of the genetic architecture of ankylosing spondylitis.
Objective:
To examine associations of HLA class I and class II alleles with ankylosing spondylitis (AS) in three cohorts of patients of European, Asian and African ancestry.
Methods:
HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DQB1 and HLA-DPB1 alleles were genotyped in 1948 unrelated white and 67 African-American patients with AS from the Prospective Study of Outcomes in Ankylosing Spondylitis cohort, the North American Spondylitis Consortium and Australo-Anglo-American Spondyloarthritis Consortium, 990 white and 245 African-American Controls and HLA-B alleles in 442 Han Chinese patients with AS and 346 controls from Shanghai and Gansu, China. In addition to the case:control analyses, HLA-B*27-negative patients with AS were analysed separately, and logistic regression and 'relative predispositional effects' (RPE) analyses were carried out to control for the major effect of HLA-B*27 on disease susceptibility.
Results:
Although numerous associations were seen between HLA alleles and AS in whites, among HLA-B*27-negative patients with AS , positive associations were seen with HLA-A*29, B*38, B*49, B*52, DRB1*11 and DPB1*03:01 and negative associations with HLA-B*07, HLA-B*57, HLA-DRB1*15:01, HLA-DQB1*02:01 and HLA-DQB1*06:02. Additional associations with HLA-B*14 and B*40 (B60) were observed via RPE analysis, which excludes the HLA-B*27 alleles. The increased frequency of HLA-B*40:01 and decreased frequency of HLA-B*07 was also seen in Han Chinese and African-Americans with AS. HLA-B*08 was decreased in whites with acute anterior uveitis.
Conclusions:
These data, analysing the largest number of patients with AS examined to date in three ethnic groups, confirm that other HLA class I and II alleles other than HLA-B*27 to be operative in AS predisposition.
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