Association of a single nucleotide polymorphism in the insulin-like growth factor-1 receptor gene with spinal disc degeneration in postmenopausal Japanese women.
METHODS
An association study investigating the genetic etiology for spinal disc degeneration.


OBJECTIVE
To determine the association of single-nucleotide polymorphism (SNP) in the insulin-like growth factor-1 receptor (IGF1R) with spinal disc degeneration.


BACKGROUND
Insulin-like growth factor-1 (IGF-1) signaling pathway is involved in cartilage development and homeostasis, suggesting that genetic variations of genes involved in this pathway may affect the pathogenesis of cartilage-related diseases, such as disc degeneration.


METHODS
We evaluated the presence of endplate sclerosis, osteophytes, and narrowing of disc spaces in 434 Japanese postmenopausal women. A SNP in the IGF1R gene at intron 1 was determined using TaqMan polymerase chain reaction method.


RESULTS
We compared those who carried the G allele (GG or GC, n = 290) with those who did not (CC, n = 144). We found that the subjects with the G allele (GG or GC) were significantly over-represented in the subjects having higher disc narrowing score (P = 0.0033; odds ratio, 2.04; 95% confidence interval, 1.27-3.29 by logistic regression analysis).


CONCLUSIONS
We suggest that a genetic variation at the IGF1R gene locus is associated with spinal disc degeneration, in line with the involvement of the IGF1R gene in the cartilage metabolism.
Urano
Tomohiko
T
Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Narusawa
Ken'ichiro
K
Shiraki
Masataka
M
Usui
Takahiko
T
Sasaki
Noriko
N
Hosoi
Takayuki
T
Ouchi
Yasuyoshi
Y
Nakamura
Toshitaka
T
Inoue
Satoshi
S
D000368:Aged; D044466:Asian People / Q000235:genetics; D002358:Cartilage, Articular / Q000378:metabolism / Q000473:pathology; D005260:Female; D006801:Humans; D007403:Intervertebral Disc / Q000473:pathology*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017698:Postmenopause / Q000235:genetics*; D017526:Receptor, IGF Type 1 / Q000235:genetics*; D013122:Spinal Diseases / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology
D017526:Receptor, IGF Type 1