Phenotypic and population differences in the association between CILP and lumbar disc disease.
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 factorbeta1 signalling.


OBJECTIVE
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.


CONCLUSIONS
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.
Virtanen
I M
IM
Song
Y Q
YQ
Cheung
K M C
KM
Ala-Kokko
L
L
Karppinen
J
J
Ho
D W H
DW
Luk
K D K
KD
Yip
S P
SP
Leong
J C Y
JC
Cheah
K S E
KS
Sham
P
P
Chan
D
D
D015331:Cohort Studies; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics* / Q000502:physiology; D005260:Female; D005387:Finland / Q000453:epidemiology; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006723:Hong Kong / Q000453:epidemiology; D006801:Humans; D007405:Intervertebral Disc Displacement / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D008159:Lumbar Vertebrae; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011755:Pyrophosphatases / Q000235:genetics* / Q000502:physiology; D012585:Sciatica / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D012720:Severity of Illness Index; D015398:Signal Transduction / Q000502:physiology; D053773:Transforming Growth Factor beta1 / Q000502:physiology
D016326:Extracellular Matrix Proteins; D053773:Transforming Growth Factor beta1; C114607:CILP protein, human; D011755:Pyrophosphatases