CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis

Xiaochong Gao, Derek Gordon, Dongping Zhang, Richard Browne, Cynthia Helms, Joseph Gillum, Samuel Weber, Shonn Devroy, Saralove Swaney, Matthew Dobbs, Jose Morcuende, Val Sheffield, Michael Lovett, Anne Bowcock, John Herring, Carol Wise

Research output: Contribution to journalArticlepeer-review

124 Scopus citations


Idiopathic scoliosis (IS) is the most common spinal deformity in children, and its etiology is unknown. To refine the search for genes underlying IS susceptibility, we ascertained a new cohort of 52 families and conducted a follow-up study of genomewide scans that produced evidence of linkage and association with 8q12 loci (multipoint LOD 2.77; P = .0028). Further fine mapping in the region revealed significant evidence of disease-associated haplotypes (P < 1.0 × 10-4) centering over exons 2-4 of the CHD7 gene associated with the CHARGE (coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness) syndrome of multiple developmental anomalies. Resequencing CHD7 exons and conserved intronic sequence blocks excluded coding changes but revealed at least one potentially functional polymorphism that is overtransmitted (P = .005) to affected offspring and predicts disruption of a caudal-type (cdx) transcription-factor binding site. Our results identify the first gene associated with IS susceptibility and suggest etiological overlap between the rare, early-onset CHARGE syndrome and common, later-onset IS.

Original languageEnglish (US)
Pages (from-to)957-965
Number of pages9
JournalAmerican Journal of Human Genetics
Issue number5
StatePublished - May 2007

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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