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Orthopaedic Proceedings
Vol. 94-B, Issue SUPP_XXVII | Pages 27 - 27
1 Jun 2012
Miller N Carry P Chan K Strain J Swindle K Rousie D
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Introduction

Studies of the vestibular system in patients with idiopathic scoliosis (IS) have shown abnormalities in the semicircular canals (SCC) and the basicranium. Rousie (2008) revealed a statistically increased incidence of structural anomalies in the SCCs with three-dimensional computer generated modelling. Some of these findings were replicated in a small population by Cheng (2010). The primary goals of this investigation are verification of SCC abnormalities of patients with IS versus controls with use of three-dimensional modelling with subsequent development of a unique phenotypical classification. Our long-term goal is to provide new direction for hypothesis directed identification and characterisation of genes causally related to IS.

Methods

20 patients with IS and 20 controls matched for age and sex will be identified through the clinic with approval from the institutional review board. Power analyses were done to detect the difference in distributions as the proportion of fisher tests with p values less than 0·05. A sample size of 20 per group gives 86–99% power to realise results under conservative assumptions. IS patients and controls undergo vestibular system examination via T2 MRI imaging. Extracted data are evaluated by a team including Dr Rousie, ENT, radiology, and orthopaedic surgery. DNA is extracted with Gentra Puregene kits from Qiagen (Valencia, CA, USA). Developmental genes related to SCC and axial somatogenesis are being identified through a bioinformatics approach, targeting known IS genomic loci. Custom single-nucleotide polymorphism panels, statistical linkage, and association will identify genes of significance for sequencing.