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Rheumatology Advance Access published online on October 25, 2006
Rheumatology, doi:10.1093/rheumatology/kel359
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© The Author 2006. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Received June 24, 2006
Accepted September 19, 2006

Original Papers

Monocyte chemotactic protein-1 single nucleotide polymorphisms do not confer susceptibility for the development of adult onset polymyositis/dermatomyositis in UK Caucasians

H. Chinoy 1, F. Salway 2, N. Fertig 3, B. D. Tait 4, C. V. Oddis 3, W. E. R. Ollier 2, and R. G. Cooper 5 *

1 Rheumatic Diseases Centre, Hope Hospital, Salford, UK; Centre for Integrated Genomic Medical Research, University of Manchester, UK
2 Centre for Integrated Genomic Medical Research, University of Manchester, UK
3 Division of Rheumatology & Clinical Immunology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
4 Victorian Transplantation and Immunogenetic Service, Australian Red Cross Blood Transfusion Service, Melbourne, Australia
5 Rheumatic Diseases Centre, Hope Hospital, Salford, UK

* To whom correspondence should be addressed.
R. G. Cooper, E-mail: rcooper{at}fs1.ho.man.ac.uk


  Abstract

Objectives. Polymyositis (PM) and dermatomyositis (DM) form part of the idiopathic inflammatory myopathies (IIMs). The chemokine monocyte chemotactic protein-1 (MCP-1) is expressed at sites of the T cell inflammatory response in the IIMs. We thus investigate whether genetic markers in the MCP-1 gene confer disease susceptibility for the development of PM and DM.

Methods. DNA samples were analysed from a group of 195 UK Caucasian IIM patients, comprising 103 PM and 92 DM. Their results were compared with those of 162 ethnically matched controls. The polymorphic positions of three single nucleotide polymorphisms (SNPs) and one insertion-deletion sequence within regions coding for MCP-1 were tested. The SNPs examined were located in intron 1 (rs2857657, C/G), exon 2 (rs4586, A/G) and the 3 ' untranslated region (rs13900, C/T). The insertion-deletion sequence was located in intron 1 (rs3917887, AGCTCCTCCTTCTC/-). Each SNP was tested for Hardy-Weinberg equilibrium and allelic/genotypic associations. Haplotype frequencies were estimated using the Expectation/Maximization algorithm.

Results. There was strong linkage disequilibrium present between three out of these four markers. The majority of controls were in Hardy Weinberg equilibrium. No allelic, genotypic or haplotypic associations were detected when comparing PM or DM cases to controls, or when PM and DM were compared with each other.

Conclusions. Genetic markers in the MCP-1 gene do not demonstrate significant genetic associations with the IIMs, and do not discriminate PM from DM in a UK Caucasian population.

Keywords: Myositis; Polymyositis; Dermatomyositis; Monocyte chemotactic protein-1; Single nucleotide polymorphisms.
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