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Associations between ERAP1 polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis
Young Ho Lee1, Sung Jae Choi, Jong Dae Ji
1Division of Rheumatology, Department of Internal Medicine, Korea University Anam Hospital, Korea University College of Medicine, 126-1 Anam-dong 5 ga, Seongbuk-gu, Seoul, 136-705, Korea. lyhcgh@korea.ac.kr
Summary
This study found that specific endoplasmic reticulum aminopeptidase 1 (ERAP1) gene variations are linked to ankylosing spondylitis (AS) susceptibility, particularly in European populations. Further research is needed for other ethnic groups.
Area of Science:
- Genetics
- Immunology
- Rheumatology
Background:
- Ankylosing spondylitis (AS) is a chronic inflammatory disease primarily affecting the spine.
- Genetic factors play a significant role in AS pathogenesis.
- Endoplasmic reticulum aminopeptidase 1 (ERAP1) is an enzyme involved in antigen processing and immune regulation.
Purpose of the Study:
- To investigate the association between five specific polymorphisms of the ERAP1 gene and the risk of developing ankylosing spondylitis.
- To determine if these ERAP1 polymorphisms confer susceptibility to AS in different ethnic groups.
Main Methods:
- A comprehensive meta-analysis was performed on six eligible studies.
- Included studies comprised a total of 4,594 AS patients and 3,971 controls.
- Fixed and random effects models were utilized to analyze the associations between ERAP1 polymorphisms (rs27044, rs17482078, rs10050860, rs30187, rs2287987) and AS.
Main Results:
- Significant associations were found between AS and the rs27044 polymorphism in both European and Asian populations.
- The rs30187 polymorphism also showed a similar association pattern across ethnicities.
- Specific ERAP1 polymorphisms (rs17482078, rs10050860, rs2287987) were significantly associated with AS risk in Europeans, but not in the single Asian study analyzed.
Conclusions:
- The ERAP1 gene polymorphisms rs27044, rs17482078, rs10050860, rs30187, and rs2287987 are associated with ankylosing spondylitis development, especially in European populations.
- The findings highlight the role of ERAP1 in AS pathogenesis.
- Further investigation into these genetic associations is warranted in diverse ethnic cohorts.
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