LETTER TO JMG

Phenotypic and population differences in the association between CILP and lumbar disc disease

I M Virtanen^1,*, Y Q Song^2,*, K M C Cheung^3,*, L Ala-Kokko¹, J Karppinen⁵, D W H Ho², K D K Luk³, S P Yip⁶, J C Y Leong⁷, K S E Cheah², P Sham⁴, D Chan²

¹ Collagen Research Unit, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Oulu, Finland
² Department of Biochemistry, The University of Hong Kong, Pokfulam, Hong Kong, China
³ Department of Orthopaedics and Traumatology, The University of Hong Kong, Pokfulam, Hong Kong, China
⁴ The Genome Research Centre, The University of Hong Kong, Pokfulam, Hong Kong, China
⁵ Finnish Institute of Occupational Health, Helsinki, Finland
⁶ Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong, China
⁷ The Open University of Hong Kong, Hong Kong, China

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

Background: Lumbar disc disease (LDD) is one of the leading causes of disability in the working-age population. A functional single-nucleotide polymorphism (SNP), +1184TC, 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 factorß1 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.

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

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