Purpose and Background. Low birth weight is related to decreased lumbar spine vertebral canal size and bone mineral content later in life, suggesting that antenatal factors affect spine development. The purpose of this study was to explore associations between antenatal factors and lumbar spine morphology in childhood. Methods. Antenatal data and supine MR images of the lumbar spine were available for 161 children. Shape modelling, using principle components analysis, was performed on mid-sagittal images to quantify different modes of variation in lumbar spine shape. Previously collected measures of spine canal dimensions were analysed. Results. Almost 75 % of all of the variation in lumbar spine shape was explained by just three modes. Modes 1 and 3 described the total amount and the distribution of curvature along the spine, respectively. Mode 2 (M2) captured variation in vertebral shape and size; increasing mode scores represented flatter vertebral bodies with increasing anterior-posterior dimensions. We saw no significant associations between mode scores and birth weight z-scores, placental weight, gestation length and no effect of maternal smoking (P>0.05). Controlling for gestation length revealed a positive correlation between birth weight and M2 (P=0.02). Males, longer babies and those from heavier mothers had higher M2 scores (P<0.05). This sex difference remained even when controlling for the other factors (P<0.001). Modes 1 and 2 correlated with spine canal dimensions (P<0.05). Conclusions. Our results suggest that antenatal factors have some effect on vertebral body morphology but not overall lumbar spinal shape. Perhaps environmental factors during growth and genetics play a larger role in determining the overall spine shape. This abstract has not been previously published in whole or substantial part nor has it been presented previously at a national meeting. Conflicts of interest: No conflicts of interest. Sources of funding: This work was supported by a studentship granted to the University and awarded to AVP

Introduction. Dual energy X-ray absorptiometry (DEXA) is the gold standard for assessing bone mineral density (BMD) and fracture risk in vivo. However, it has limitations in the spine because vertebrae show marked regional variations in BMD that are difficult to detect clinically. This study investigated whether micro-CT can provide improved estimates of BMD that better predict vertebral strength. Methods. Ten cadaveric vertebral bodies (mean age: 83.7 +/− 10.8 yrs) were scanned using lateral-projection DEXA and Micro-CT. Standardised protocols were used to determine BMD of the whole vertebral body and of anterior/posterior and superior/inferior regions. Vertebral body volume was assessed by water displacement after which specimens were compressed to failure to determine their compressive strength. Specimens were then ashed to determine their bone mineral content (BMC). Parameters were compared using ANOVA and linear regression. Results. Measures of volumetric BMD obtained from Micro-CT were significantly higher than those obtained by DEXA (P<0.001), and estimates using the two techniques were not significantly correlated. DEXA measurements were strongly predictive of compressive strength, with areal BMD of the anterior vertebral body being the best predictor (R. 2. = 0.722, P = 0.002). Micro-CT measurements did not predict strength. Vertebral body BMD (derived from ash weight) correlated more highly with volumetric BMD values obtained from DEXA (R = 0.88) than those obtained from micro-CT (R = 0.72). Conclusion. BMD assessed by lateral DEXA predicted strength and BMC of osteoporotic vertebrae more accurately than micro-CT measures. Poor correlation between BMD measurements from DEXA and micro-CT suggests that ‘phantoms’ used in Micro-CT may require fine-tuning in order to better represent osteoporotic vertebrae

Introduction. Idiopathic scoliosis (IS) has been associated with several genetic loci in varying study populations, reflecting the disorder's genetic complexity. One region of interest is on chromosome 17, flanking regions linked to neurofibromatosis type 1 (NF1). This region is of particular relevance because the most common osseous manifestation in NF1 is scoliosis (10–30% of patients). This alludes to a potential genetic correlation within this region affecting spinal development or stability. The objective of this research is to identify candidate genes within this region that are statistically linked to IS. Methods. An initial population of IS families recruited through approval by the institutional review board (202 families; 1198 individuals) had DNA harvested from blood, and underwent genomic screening, finemapping, and statistical analyses. We identified a specific familial subset: families with males having undergone surgery for scoliosis (17 families, 147 individuals). The initial genome-wide scan indicated that this subset was linked to chromosome 17q.11.2. The most prominent marker, D17s975, (p=0·0003) at 25.12 Mb is adjacent to the NF1 deletional region. We then analysed a custom panel of single-nucleotide polymorphisms (SNPs) extending from 18·30–31·47 Mb for linkage through Taqman SNP assay protocol. With allele specific fluorescent tags, allelic discrimination was done with real-time PCR. Results. Findings show two regions with two or more contiguous SNPs of significance (p<0·05), confirming significant linkage adjacent to the NF1 locus (table). The most significant results lie within the serotonin transporter gene SLC6A4, whose product is a modulator of serotonin (5-HT) activity. Conclusions. IS is a disorder of variable phenotypic expression that has been related to several regions on the genome. Although NF1 has been definitively associated with a region on chromosome 17, the phenotypic expression is not understood at the molecular level. The elucidation of shared genetic variations within this region by two disorders marked by scoliosis has significance for the molecular understanding of the pathogenesis of scoliosis and axial development. The specific gene, SLC6A4, is of particular interest in that as a modulator of serotonin transport, bone mineral content, density, and mechanical strength can be altered. Both NF1 and IS in some patients have been associated with decreased bone mineral density. Future work will focus on replication of these findings and targeted genetic sequencing

Aims

Idiopathic scoliosis is the most common spinal deformity in adolescents and children. The aetiology of the disease remains unknown. Previous studies have shown a lower bone mineral density in individuals with idiopathic scoliosis, which may contribute to the causation. The aim of the present study was to compare bone health in adolescents with idiopathic scoliosis with controls.