title: Identification of candidate regions for familial idiopathic scoliosis.
abstract: METHODS
  A genomic screen and statistical linkage analysis of 202 families with at least two individuals with idiopathic scoliosis was performed.
  
  
  OBJECTIVE
  To identify candidate regions or the autosomal loci that may be involved in the expression of familial idiopathic scoliosis.
  
  
  BACKGROUND
  A large sample of families with individuals having idiopathic scoliosis (202 families; 1,198 individuals) was ascertained; diagnoses were based on physical examination and radiographic criteria.
  
  
  METHODS
  Model-independent linkage analysis of qualitative and quantitative traits (degree of lateral curvature) related to scoliosis was used to screen genotyping data from 391 markers in the 202 families. Subsets of families were determined before genotyping based on the most likely mode of inheritance for each family (autosomal dominant vs. X-linked dominant). Fine mapping results corroborated linkage in the primary candidate regions.
  
  
  RESULTS
  Candidate regions on chromosomes 6, 9, 16, and 17 were considered to have the strongest evidence for linkage across all subsets considered.
  
  
  CONCLUSIONS
  Linkage analyses have identified several candidate regions, a significant step in defining the genetic etiology of this disorder.
authors.affiliation: Johns Hopkins University, Baltimore, MD, USA. nmillerb@jhmi.edu
authors.forename: Nancy H
authors.initials: NH
authors.lastname: Miller
authors.forename: Cristina M
authors.initials: CM
authors.lastname: Justice
authors.forename: Beth
authors.initials: B
authors.lastname: Marosy
authors.forename: Kimberly F
authors.initials: KF
authors.lastname: Doheny
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Pugh
authors.forename: Jun
authors.initials: J
authors.lastname: Zhang
authors.forename: Harry C
authors.initials: HC
authors.lastname: Dietz
authors.forename: Alexander F
authors.initials: AF
authors.lastname: Wilson
mesh_terms: D005190:Family; D008040:Genetic Linkage; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D023281:Genomics; D040582:Inheritance Patterns / Q000235:genetics*; D012600:Scoliosis / Q000235:genetics*
chemical_list: D005819:Genetic Markers