Association of a Single Nucleotide Polymorphism in the Insulin-Like Growth Factor-1 Receptor Gene With Spinal Disc Degeneration in Postmenopausal Japanese Women.

Health Services Research

Spine. 33(11):1256-1261, May 15, 2008.
Urano, Tomohiko MD, PhD *+; Narusawa, Ken'ichiro MD, PhD ++; Shiraki, Masataka MD, PhD [S]; Usui, Takahiko MD, PhD *+; Sasaki, Noriko BS +; Hosoi, Takayuki MD, PhD [P]; Ouchi, Yasuyoshi MD, PhD *; Nakamura, Toshitaka MD, PhD ++; Inoue, Satoshi MD, PhD *+[//]

Abstract:
Study Design. 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.

Summary of Background Data. 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).

Conclusion. 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.

(C) 2008 Lippincott Williams & Wilkins, Inc.