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.
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.
Authors: Javier Fernández-Torres; Gabriela Angélica Martínez-Nava; Yessica Zamudio-Cuevas; Karina Martínez-Flores; María Concepción Gutiérrez-Ruíz; Luis Enrique Gómez-Quiroz; Daniela Garrido-Rodríguez; José Francisco Muñoz-Valle; Edith Oregón-Romero; Carlos Lozada; Denise Clavijo Cornejo; Carlos Pineda; Alberto López-Reyes Journal: Clin Rheumatol Date: 2019-06-25 Impact factor: 2.980
Authors: S Tanaka; K Narusawa; H Onishi; M Miura; A Hijioka; Y Kanazawa; S Nishida; S Ikeda; T Nakamura Journal: Osteoporos Int Date: 2010-07-13 Impact factor: 4.507