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Phenotypic and population differences in the association between CILP and lumbar disc disease
  1. Iita M Virtanen (iita.daavittila{at}oulu.fi)
  1. University of Oulu, Finland
    1. You-Qiang Song (songy{at}hkucc.hku.hk)
    1. The University of Hong Kong, Hong Kong
      1. Kenneth MC Cheung (cheungmc{at}hkucc.hku.hk)
      1. The University of Hong Kong, Hong Kong
        1. Leena Ala-Kokko (leena.ala-kokko{at}oulu.fi)
        1. University of Oulu, Finland
          1. Jaro Karppinen (jaro.karppinen{at}ttl.fi)
          1. Finnish Institute of Occupational Health, Finland
            1. Daniel WH Ho (hodwh{at}hkusua.hku.hk)
            1. The University of Hong Kong, Hong Kong
              1. Keith DK Luk (hrmoldk{at}hkucc.hku.hk)
              1. The University of Hong Kong, Hong Kong
                1. Shea-Ping Yip (hsspyip{at}polyu.edu.hk)
                1. The Hong Kong Polytechnic University, Hong Kong
                  1. John CY Leong (jcyleong{at}ouhk.edu.hk)
                  1. The Open University of Hong Kong, Hong Kong
                    1. Kathryn SE Cheah (hrmbdkc{at}hkusua.hku.hk)
                    1. The University of Hong Kong, Hong Kong
                      1. Pak Sham
                      1. King’s College, United Kingdom
                        1. Danny Chan (chand{at}hkusua.hku.hk)
                        1. The University of Hong Kong, Hong Kong

                          Abstract

                          Background: Lumbar disc disease (LDD) is one of the leading causes of disability in the working-age population. A functional SNP, +1184T→C, in exon 8 of the cartilage intermediate layer protein gene (CILP) was recently identified as a risk factor for lumbar disc disease (LDD) in the Japanese population (OR=1.61, 95% CI=1.31-1.98), with implications to impaired TGFβ-signaling. Aim: To validate this finding in two different ethnic cohorts with LDD. Methods: This SNP and flanking SNPs was analyzed in 243 Finnish patients with symptomatic LDD and 259 controls, and 348 Chinese subjects with magnetic resonance imaging defined LDD and 343 controls. Results and Conclusion: The results showed no evidence of association in the Finnish (OR=1.35, 95% CI 0.97-1.87; P=0.14) or the Chinese (OR=1.05, 95% CI 0.77-1.43; P=0.71) samples, suggesting that CILP is not a major risk factor for symptomatic LDD in Caucasians, or LDD in the general population that included symptomatic and non-symptomatic individuals.

                          • CILP
                          • genetics
                          • intervertebral disc
                          • spine disease
                          • transforming growth factor beta

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