Scoliosis Research Today is a free monthly online journal that collates and summarizes the latest research about Scoliosis, including details on treatment, exercises, surgery, symtpoms. | ||||||||
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Lack of association between the aggrecan gene and familial idiopathic scoliosis.Marosy B, Justice CM, Nzegwu N, Kumar G, Wilson AF, Miller NH Johns Hopkins University, Baltimore, MD, USA. bmarosy@jhmi.edu STUDY DESIGN: A study was conducted to determine the potential association between a specific aggrecan gene polymorphism and familial idiopathic scoliosis (FIS). OBJECTIVES: To determine the allelic distribution of the exon 12 polymorphism within a sample of families with FIS. SUMMARY OF BACKGROUND DATA: FIS is a structural curvature of the spine where the underlying genetic etiology has not been established. The aggrecan locus has been linked to multiple skeletal disorders. A polymorphism, within the aggrecan gene, was previously reported to be associated with curve severity in individuals with scoliosis. METHODS: Fifty-eight families with FIS were genotyped for the aggrecan exon 12 polymorphism using a polymerase chain reaction method. Model-independent sib-pair linkage analyses and tests of association were performed to analyze the genetic effects of the exon 12 polymorphism. RESULTS: Linkage analyses of a genomic screen performed on a subgroup of 48 families with a most likely to be X-linked dominant mode of inheritance of FIS showed marginally significant results on chromosome 15q25-26 (P < 0.05). The overall distribution of the alleles was consistent with previously reported literature; no evidence of association and marginal significance of linkage was found between the polymorphism and FIS or the degree of lateral curvature. CONCLUSIONS: Despite the negative association reported here, further investigation of the gene and its potential association to FIS is required. Published 2 June 2006 in Spine, 31(13): 1420-5.
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