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Phenotypic and population differences in the association between CILP and lumbar disc disease
  1. I M Virtanen1,*,
  2. Y Q Song2,*,
  3. K M C Cheung3,*,
  4. L Ala-Kokko1,
  5. J Karppinen5,
  6. D W H Ho2,
  7. K D K Luk3,
  8. S P Yip6,
  9. J C Y Leong7,
  10. K S E Cheah2,
  11. P Sham4,
  12. D Chan2
  1. 1Collagen Research Unit, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Oulu, Finland
  2. 2Department of Biochemistry, The University of Hong Kong, Pokfulam, Hong Kong, China
  3. 3Department of Orthopaedics and Traumatology, The University of Hong Kong, Pokfulam, Hong Kong, China
  4. 4The Genome Research Centre, The University of Hong Kong, Pokfulam, Hong Kong, China
  5. 5Finnish Institute of Occupational Health, Helsinki, Finland
  6. 6Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong, China
  7. 7The Open University of Hong Kong, Hong Kong, China
  1. Correspondence to:
 Dr D Chan
 Department of Biochemistry, The University of Hong Kong, Faculty of Medicine Building, 21 Sassoon Road, Pokfulam, Hong Kong, China; chand{at}hkusua.hku.hk

Abstract

Background: Lumbar disc disease (LDD) is one of the leading causes of disability in the working-age population. A functional single-nucleotide polymorphism (SNP), +1184T→C, in exon 8 of the cartilage intermediate layer protein gene (CILP) was recently identified as a risk factor for LDD in the Japanese population (odds ratio (OR) 1.61, 95% CI 1.31 to 1.98), with implications for impaired transforming growth factorβ1 signalling.

Aim: To validate this finding in two different ethnic cohorts with LDD.

Methods: This SNP and flanking SNPs were analysed in 243 Finnish patients with symptoms of LDD and 259 controls, and in 348 Chinese subjects with MRI-defined LDD and 343 controls.

Results and conclusion: The results showed no evidence of association in the Finnish (OR = 1.35, 95% CI 0.97 to 1.87; p = 0.14) or the Chinese (OR = 1.05, 95% CI 0.77 to 1.43; p = 0.71) samples, suggesting that cartilage intermediate layer protein gene is not a major risk factor for symptoms of LDD in Caucasians or in the general population that included individuals with or without symptoms.

  • CILP, cartilage intermediate layer protein
  • LDD, lumbar disc disease
  • SNP, single-nucleotide polymorphism
  • TGF, transforming growth factor

http://dx.doi.org/10.1136/jmg.2006.047076

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    Footnotes

    • ↵* These authors contributed equally to this work.

    • Published Online First 12 January 2007

    • Competing interests: None declared.

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    Copyright 2007 Journal of Medical Genetics