Intra-familial tests of association between familial idiopathic scoliosis and linked regions on 9q31.3-q34.3 and 16p12.3-q22.2

Nancy H. Miller, Cristina M. Justice, Beth Marosy, Kandice Swindle, Yoonhee Kim, Marie Hélène Roy-Gagnon, Heejong Sung, Dana Behneman, Kimberly F. Doheny, Elizabeth Pugh, Alexander F. Wilson

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


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. Results and 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.

Original languageEnglish (US)
Pages (from-to)36-44
Number of pages9
JournalHuman Heredity
Issue number1
StatePublished - Nov 2012


  • Association
  • Chromosome 16
  • Chromosome 9
  • Complex disease
  • Family-based association study
  • Genetic heterogeneity
  • Genetics
  • Idiopathic scoliosis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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