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Rheumatology Advance Access published online on November 16, 2004
Rheumatology, doi:10.1093/rheumatology/keh429
Rheumatology © British Society for Rheumatology 2004; all rights reserved
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Received January 2, 2004
Accepted September 7, 2004

Original Papers

Lack of association of matrix metalloproteinase 3 (MMP3) genotypes with ankylosing spondylitis suscesptibility and severity

L. Jin 1, M. Weisman 2, G. Zhang 1, M. Ward 3, J. Luo 1, J. Bruckel 4, R. Inman 5, M. A. Khan 6, H. R. Schumacher 7, W. P. Maksymowych 8, M. Mahowald 9, T. Martin 10, J. T. Rosenbaum 10, D. T. Y. Yu 2, M. Stone 5, J. Watson 1, E. Dickman 1, J. Davis 11, and J. D. Reveille 12*

1 University of Cincinnati, Cincinnati, OH, USA
2 University of California-Los Angeles, Los Angeles, USA
3 National Institute of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA
4 Spondylitis Association of America, Sherman Oaks, CA, USA
5 University of Toronto, Toronto, ON, Canada
6 Case-Western Reserve University, Cleveland, OH, USA
7 University of Pennsylvania, Philadelphia, PA, USA
8 University of Alberta, Edmonton, AL, Canada
9 University of Minnesota, Minneapolis, MN, USA
10 Oregon Health and Science University, Portland, OR, USA
11 University of California-San Francisco, CA, USA
12 University of Texas-Houston Health Science Center, Houston, TX, USA

* To whom correspondence should be addressed.
J. D. Reveille, E-mail: john.d.reveille{at}uth.tmc.edu


  Abstract

Objective. To study the linkage and association of ankylosing spondylitis (AS) with genotypes for matrix metalloproteinase 3 (MMP3), a gene located at chromosome 11q22.3 and lying within the 101-124 cM region observed in a recent genome-wide scan as a region associated with AS susceptibility.

Methods. MMP3 genotypes were examined in 229 pedigrees with AS, 131 sporadic AS cases and 87 Caucasian controls. Eight single-nucleotide polymorphisms (SNPs) were selected and genotyped using Taqman. Non-parametric linkage (NPL) analysis was conducted between the eight MMP3 SNPs and AS using the NPL-all statistic and two-point parametric linkage analysis using GeneHunter Plus. Unrelated AS cases and controls were compared using {chi}2 statistics, and family-based controls using the transmission disequilibrium test and pedigree disequilibrium test.

Results. None of the eight MMP3 SNPs were significantly associated with AS, either using the 131 sporadic cases alone or in analyses which combined these cases with the 226 unrelated affected AS patients derived from the pedigrees. Analysis of linkage disequilibrium (LD) demonstrated that seven of the eight SNPs studied were in strong LD except for rs626750, which is about 6 kb upstream of the 5' end of the gene. No significant linkage was observed using NPL and LODs in the families. No association was seen of any of the MMP3 SNPs with disease severity (defined by patient functioning), as measured either by the Bath Ankylosing Spondylitis Functional Index or the modified Health Assessment Questionnaire.

Conclusion. These data suggest that MMP3 genotypes are not involved in AS susceptibility or severity.

Keywords: Ankylosing spondylitis; Genetics; Single-nucleotide polymorphisms; Matrix metalloproteinase 3; Disease severity.
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