Re: Ward K, Ogilvie JW, Singleton, et al. Validation of DNA-based prognostic testing to predict spinal curve progression in adolescent idiopathic scoliosis. Spine 2010;35:E1455-64.

摘要

Recent technological advances have facilitated the surveying of the genome for variants contributing to complex disease. Such "genome wide association studies" (GWAS) have revealed replicable signals that are strongly associated with disease (http://www.genome.gov/gwastudies). However, with current platforms, only a small proportion of the predicted genetic contribution to most diseases has been figured out, with the bulk of the "missing heritability" still to be elucidated. Ward et al propose a set of genetic markers that have high prognostic value for adolescent idiopathic scoliosis (AIS) on the basis of their as-yet-unpublished GWAS. Table 1 hints at their findings but we get no sense of the size and design of their study. Typically, a single successful GWAS will yield less than five loci; indeed our recently published GWAS of AIS only identified one locus.