title: Intra-familial tests of association between familial idiopathic scoliosis and linked regions on 9q31.3-q34.3 and 16p12.3-q22.2.
abstract: OBJECTIVE
  Custom genotyping of markers in families with familial idiopathic scoliosis were used to fine-map candidate regions on chromosomes 9 and 16 in order to identify candidate genes that contribute to this disorder and prioritize them for next-generation sequence analysis.
  
  
  METHODS
  Candidate regions on 9q and 16p-16q, previously identified as linked to familial idiopathic scoliosis in a study of 202 families, were genotyped with a high-density map of single nucleotide polymorphisms. Tests of linkage for fine-mapping and intra-familial tests of association, including tiled regression, were performed on scoliosis as both a qualitative and quantitative trait.
  
  
  CONCLUSIONS
  Nominally significant linkage results were found for markers in both candidate regions. Results from intra-familial tests of association and tiled regression corroborated the linkage findings and identified possible candidate genes suitable for follow-up with next-generation sequencing in these same families. Candidate genes that met our prioritization criteria included FAM129B and CERCAM on chromosome 9 and SYT1, GNAO1, and CDH3 on chromosome 16.
authors.affiliation: Department of Orthopaedic Surgery, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA. Nancy.Miller@childrenscolorado.org
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: Kandice
authors.initials: K
authors.lastname: Swindle
authors.forename: Yoonhee
authors.initials: Y
authors.lastname: Kim
authors.forename: Marie-Hélène
authors.initials: MH
authors.lastname: Roy-Gagnon
authors.forename: Heejong
authors.initials: H
authors.lastname: Sung
authors.forename: Dana
authors.initials: D
authors.lastname: Behneman
authors.forename: Kimberly F
authors.initials: KF
authors.lastname: Doheny
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Pugh
authors.forename: Alexander F
authors.initials: AF
authors.lastname: Wilson
mesh_terms: D000328:Adult; D002874:Chromosome Mapping / Q000379:methods; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D005260:Female; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012600:Scoliosis / Q000235:genetics*