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

• Published in: Journal of medical genetics Vol. 44; no. 4; pp. 285 - 288
• Main Authors: Virtanen, I M, Song, Y Q, Cheung, K M C, Ala-Kokko, L, Karppinen, J, Ho, D W H, Luk, K D K, Yip, S P, Leong, J C Y, Cheah, K S E, Sham, P, Chan, D
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.04.2007; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: Age; Biological and medical sciences; cartilage intermediate layer protein; CILP; Cohort Studies; Exons - genetics; Extracellular Matrix Proteins - genetics; Extracellular Matrix Proteins - physiology; Female; Finland - epidemiology; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genes; Genetic Predisposition to Disease; Genetics of eukaryotes. Biological and molecular evolution; Genotype; Hong Kong - epidemiology; Humans; Intervertebral Disc Displacement - complications; Intervertebral Disc Displacement - epidemiology; Intervertebral Disc Displacement - genetics; LDD; Letter to JMG; lumbar disc disease; Lumbar Vertebrae; Male; Medical genetics; Medical sciences; Molecular and cellular biology; Pain; Polymorphism, Single Nucleotide; Population; Pyrophosphatases - genetics; Pyrophosphatases - physiology; Sciatica - epidemiology; Sciatica - etiology; Sciatica - genetics; Severity of Illness Index; Signal Transduction - physiology; single-nucleotide polymorphism; SNP; TGF; transforming growth factor; Transforming Growth Factor beta1 - physiology; Hong Kong; Finland; California; Human; Phenotype; Association; Disease; Lumbar spine; Genetics; Population; Intervertebral disk; Comparative study
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.2006.047076

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.