Study Design. Genetic case-control study of single nucleotide polymorphisms (SNPs). Objective. To examine the association of previously reported susceptibility genes for adolescent idiopathic scoliosis (AIS) and intervertebral disc (IVD) degeneration with adult spinal deformity (ASD). Summary of Background Data. ASD is a spinal deformity that develops and progresses with age. Its etiology is unclear. Several ASD susceptibility genes were recently reported using a candidate gene approach; however, the sample sizes were small and associations with ASD development were not determined. Methods. ASD was defined as structural scoliosis with a Cobb angle more than 15° on standing radiographs, taken of patients at age 40 to 75 years in this study. Subjects in whom scoliosis was diagnosed before age 20 were excluded. We recruited 356 Japanese ASD subjects and 3341 healthy controls for case-control association studies of previously reported SNPs. We genotyped four known AIS-associated SNPs (rs11190870 in LBX1, rs6570507 in GPR126, rs10738445 in BNC2, and rs6137473 in PAX1) and three IVD degeneration-associated SNPs (rs1245582 in CHST3, rs2073711 in CILP, and rs1676486 in COL11A1) by the Invader assay. Results. Among the AIS-associated SNPs, rs11190870 and rs6137473 showed strong and nominal associations with ASD (P = 1.44 × 10−4, 1.00 × 10−2, respectively). Of the IVD degeneration-associated SNPs, rs1245582 and rs2073711 showed no association with ASD, while rs1676486 showed a nominal association (P = 1.10 × 10−2). In a subgroup analysis, rs11190870 was significantly associated with a Cobb angle more than 20° in the minor thoracic curve (P = 1.44 × 10−4) and with a left convex lumbar curve (P = 6.70 × 10−4), and nominally associated with an apical vertebra higher than L1 (P = 1.80 × 10−2). Conclusion. rs11190870 in LBX1, a strong susceptibility SNP for AIS, may also be a susceptibility SNP for ASD. Thus, ASD and AIS may share a common genetic background. Level of Evidence: 4
To examine whether the number of continuous vertebral bone bridges and bone mineral density (BMD) influence the fracture risk in diffuse idiopathic skeletal hyperostosis (DISH) patients. Overview of Literature: Bone bridges connecting through the intervertebral body in DISH create long lever arms that can increase the risk of fractures from minor trauma. DISH patients have a BMD that is higher than or comparable to those of age-matched healthy subjects. Methods: We examined the computed tomography scans from the thoracic vertebra to the sacrum used to diagnose DISH in 140 patients (98 men and 42 women; average age, 78.6 years). We compared patients who did (n=52) and did not have (n=88) fractures at the continuous vertebral bodies fused by bone bridges. The relationship between the vertebral fractures and the maximum number of vertebrae that are bony cross-linked with contiguous adjacent vertebrae (max VB) from the thoracic vertebra to the sacrum or from the lumbar vertebra to the sacrum and proximal femur BMD were analyzed using a logistic regression model. Results: We found that after adjusting for the confounding factors, higher max VB, both from the thoracic vertebrae to the sacrum and the lumbar vertebrae to the sacrum, was associated with a higher risk of vertebral fractures. This difference was statistically significant. The risk was higher when only the lumbar vertebrae to the sacrum was considered (thoracic vertebrae to the sacrum: odds ratio, 1.21; p<0.05; lumbar vertebrae to the sacrum: odds ratio, 2.78; p<0.01). Moreover, low proximal femur BMD in DISH patients raises the fracture risk (odds ratio, 0.47; p<0.01). Conclusions: Many continuous vertebral bone bridges, especially those that extend to the lumbar spine and low proximal femur BMD, are risk factors for fracture in DISH patients.
Introduction: Although patients with diffuse idiopathic skeletal hyperostosis (DISH) do not have low bone density, it is a risk factor for spine fractures associated with DISH. We investigated the characteristics and bone metabolism markers of patients with DISH having low bone density to assess whether osteoporosis medication is necessary to prevent fractures.Methods: A cross-sectional study was conducted between April 1, 2008, and March 31, 2019. The 86 patients included were divided into two groups according to their T-scores-one group had low bone density and DISH, and the other group did not. Group A (T-score! −1) and B (T-score>−1) data were adjusted for confounding factors and compared for differences in age, body weight, maximum number of vertebral bodies with bony bridges between adjacent vertebrae (max VB), and previous history (hypertension, malignant tumors, diabetes mellitus, cardiac diseases, chronic renal failure, and spinal fractures). In Group A, multiple linear regression was used to investigate relationships among max VB, femur bone mineral density (BMD), total type I procollagen N-terminal propeptide (P1NP), and tartrate-resistant acid phosphatase 5b (TRACP-5 b).Results: Group A had 36, and Group B had 50 male patients with DISH. Patients in Group B were heavier than those in Group A. The mean femur BMD in Group A was age-appropriate, and that in Group B was higher than the age-appropriate femur BMD. The mean values of P1NP and TRACP-5b were within the normal range. Max VB was positively correlated with total P1NP in Group A. Total P1NP was significantly and positively correlated with TRACP-5b.Conclusions: The DISH group with a T-score of ! −1 was age-appropriate. The group with a T-score of >−1 had higher BMD because of their higher body weight. The group with a T-score of ! −1 had good bone metabolism and did not require aggressive osteoporosis treatment.
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