Replication of association of il-1 gene complex members with ankylosing spondylitis in Taiwanese Chinese

Chung Tei Chou ¹, Andrew E Timms ², James C.C. Wei ³, Wen C Tsai ⁴, B. Paul Wordsworth ² and Matthew A Brown ^2*

¹ Veterans General Hospital-Taipei, Taipei, Taiwan
² University of Oxford, Institute of Musculoskeletal Sciences, United Kingdom
³ Chung Shan Medical University, Taiwan
⁴ Kaohsiung Medical University Hospital, Kaohsiung, Taiwan

^* To whom correspondence should be addressed. E-mail: mbrown{at}well.ox.ac.uk.

Accepted 27 November 2005

Abstract

OBJECTIVE: To test the association of interleukin- 1 gene family members with ankylosing spondylitis (AS), previously reported in white Caucasians, in an ethnically remote population.

METHODS: Two hundred Taiwanese Chinese AS patients and two hundred ethnically matched healthy controls were genotyped for 5 SNPs and the IL-1RN.VNTR, markers previously associated with AS. Allele, genotype and haplotype frequencies were compared between cases and controls.

RESULTS: Association of alleles and genotypes of the markers IL-1F10.3, IL-1RN.4 and IL-1RN.VNTR was observed with AS (p<0.05). Haplotypes of pairs of these markers and of the markers IL-1RN.6/1 and IL-1RN.6/2 were also significantly associated with AS. The strongest associations observed were with the marker IL- 1RN.4, and with the two marker haplotype IL-1RN.4-IL- 1RN.VNTR (both p=0.004). Strong linkage disequilibrium was observed between all marker pairs except those involving IL-1B-511 (D' 0.4-0.9, P<0.01).

CONCLUSION: The IL-1 gene cluster is associated with AS in Taiwanese Chinese. This finding conclusively demonstrates that the previously association of this gene cluster with AS is a true positive finding.

Keywords: ankylosing spondylitis, association, interleukin-1, linkage disequilibrium

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