title: CHD7 gene polymorphisms and familial idiopathic scoliosis.
abstract: METHODS
  Model-independent linkage analysis and tests of association were performed for 22 single nucleotide polymorphisms in the CHD7 gene in 244 families of European descent with familial idiopathic scoliosis (FIS).
  
  
  OBJECTIVE
  To replicate an association between FIS and the CHD7 gene on 8q12.2 in an independent sample of families of European descent.
  
  
  BACKGROUND
  The CHD7 gene on chromosome 8, responsible for the CHARGE syndrome, was previously associated with FIS in an independent study that included 52 families of European descent.
  
  
  METHODS
  Model-independent linkage analysis and intrafamilial tests of association were performed on the degree of lateral curvature considered as a qualitative trait (with thresholds of ≥10°, ≥15°, ≥20°, and ≥30°) and as a quantitative trait (degree of lateral curvature). Results from the tests of associations from this study and the previous study were combined in a weighted meta-analysis.
  
  
  RESULTS
  No significant results (P < 0.01) were found for linkage analysis or tests of association between genetic variants of the CHD7 and FIS in this study, failing to replicate the findings from the previous study. Furthermore, no significant results (P < 0.01) were found from meta-analysis of the results from the tests of association from this sample and from the previous sample.
  
  
  CONCLUSIONS
  No association between the 22 genotyped single nucleotide polymorphisms in the CHD7 gene and FIS within this study sample was found, failing to replicate the earlier findings. Further investigation of the CHD7 gene and its potential association to FIS may be required.
  
  
  METHODS
  N/A.
authors.affiliation: *Genometrics Section, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD †Department of Orthopaedic Surgery, University of Colorado Denver Anschutz Medical Campus, Aurora, CO; and ‡Center for Inherited Disease Research, Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD.
authors.forename: Mera K
authors.initials: MK
authors.lastname: Tilley
authors.forename: Cristina M
authors.initials: CM
authors.lastname: Justice
authors.forename: Kandice
authors.initials: K
authors.lastname: Swindle
authors.forename: Beth
authors.initials: B
authors.lastname: Marosy
authors.forename: Alexander F
authors.initials: AF
authors.lastname: Wilson
authors.forename: Nancy H
authors.initials: NH
authors.lastname: Miller
mesh_terms: D004265:DNA Helicases / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005060:Europe; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012600:Scoliosis / Q000208:ethnology / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human