ARTS1 polymorphisms are associated with ankylosing spondylitis in Koreans
Chan-Bum Choi1, Tae-Hwan Kim, Jae-Bum Jun
1The Hospital for Rheumatic Diseases, Hanyang University, Seoul 133-792, Republic of Korea.
Annals of the Rheumatic Diseases
|May 6, 2009
Summary
Genetic variations in ARTS1 are linked to ankylosing spondylitis (AS) in Koreans. This study confirms a connection in a non-Caucasian population, suggesting shared disease mechanisms.
Area of Science:
- Genetics
- Immunology
- Rheumatology
Background:
- Ankylosing spondylitis (AS) is a chronic inflammatory disease.
- Genetic factors are implicated in AS pathogenesis.
- Previous studies identified associations between ARTS1 polymorphisms and AS in Caucasian populations.
Purpose of the Study:
- To investigate the association between specific ARTS1 single nucleotide polymorphisms (SNPs) and ankylosing spondylitis (AS) in a Korean cohort.
- To determine if previously identified AS-associated ARTS1 SNPs in Caucasians are also relevant in Koreans.
Main Methods:
- A case-control study was conducted with 872 Korean patients with AS and 403 healthy Korean controls.
- Genotyping was performed for five specific ARTS1 SNPs: rs27044, rs17482078, rs10050860, rs30107, and rs2287987.
- Haplotype analysis was performed on associated SNPs.
Main Results:
- SNPs rs27044 and rs30187 in the ARTS1 gene showed a significant association with AS in the Korean population (p < 10(-6)).
- No significant association was found for SNPs rs17482078, rs10050860, and rs2287987.
- Two four-marker haplotypes (GCCT and CCCC) were significantly associated with AS.
Conclusions:
- This study provides the first confirmation of an association between genetic polymorphisms in ARTS1 and AS in a non-Caucasian population.
- The findings suggest that common pathogenetic mechanisms for AS exist in both Korean and Caucasian patients.
- ARTS1 polymorphisms represent a potential genetic risk factor for ankylosing spondylitis in diverse ethnic groups.
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