Lack of association between the aggrecan gene and familial idiopathic scoliosis

Spine
Beth MarosyNancy H Miller

Abstract

A study was conducted to determine the potential association between a specific aggrecan gene polymorphism and familial idiopathic scoliosis (FIS). To determine the allelic distribution of the exon 12 polymorphism within a sample of families with FIS. 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. 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. 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 ...Continue Reading

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Citations

Jun 15, 2012·European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society·Kristen Fay GormanAlain Moreau
Nov 6, 2008·European Journal of Human Genetics : EJHG·Zhijun ChenYong Qiu
Dec 19, 2008·Spine·Jan-Willem M Kouwenhoven, René M Castelein
Oct 2, 2008·Neurosurgery·Robert F Heary, Karthik Madhavan
Jan 24, 2007·Comparative Biochemistry and Physiology. Toxicology & Pharmacology : CBP·Kristen F Gorman, Felix Breden
Jan 14, 2014·JBJS Reviews·Mitsuru YagiTakashi Asazuma
Jul 3, 2007·Clinical Orthopaedics and Related Research·Nancy Hadley Miller

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