title: Association of a single nucleotide polymorphism in the insulin-like growth factor-1 receptor gene with spinal disc degeneration in postmenopausal Japanese women.
abstract: 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.
authors.affiliation: Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
authors.forename: Tomohiko
authors.initials: T
authors.lastname: Urano
authors.forename: Ken'ichiro
authors.initials: K
authors.lastname: Narusawa
authors.forename: Masataka
authors.initials: M
authors.lastname: Shiraki
authors.forename: Takahiko
authors.initials: T
authors.lastname: Usui
authors.forename: Noriko
authors.initials: N
authors.lastname: Sasaki
authors.forename: Takayuki
authors.initials: T
authors.lastname: Hosoi
authors.forename: Yasuyoshi
authors.initials: Y
authors.lastname: Ouchi
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Nakamura
authors.forename: Satoshi
authors.initials: S
authors.lastname: Inoue
mesh_terms: 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
chemical_list: D017526:Receptor, IGF Type 1