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 Doheny, Elizabeth Pugh, Alexander F. Wilson

Research output: Contribution to journalArticle

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. 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
Volume74
Issue number1
DOIs
StatePublished - Nov 1 2012

Fingerprint

Scoliosis
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 9
Genes
Chromosome Mapping
Single Nucleotide Polymorphism
Sequence Analysis

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Miller, N. H., Justice, C. M., Marosy, B., Swindle, K., Kim, Y., Roy-Gagnon, M. H., ... Wilson, A. F. (2012). Intra-familial tests of association between familial idiopathic scoliosis and linked regions on 9q31.3-q34.3 and 16p12.3-q22.2. Human Heredity, 74(1), 36-44. https://doi.org/10.1159/000343751

Intra-familial tests of association between familial idiopathic scoliosis and linked regions on 9q31.3-q34.3 and 16p12.3-q22.2. / Miller, Nancy H.; Justice, Cristina M.; Marosy, Beth; Swindle, Kandice; Kim, Yoonhee; Roy-Gagnon, Marie Hélène; Sung, Heejong; Behneman, Dana; Doheny, Kimberly; Pugh, Elizabeth; Wilson, Alexander F.

In: Human Heredity, Vol. 74, No. 1, 01.11.2012, p. 36-44.

Research output: Contribution to journalArticle

Miller, NH, Justice, CM, Marosy, B, Swindle, K, Kim, Y, Roy-Gagnon, MH, Sung, H, Behneman, D, Doheny, K, Pugh, E & Wilson, AF 2012, 'Intra-familial tests of association between familial idiopathic scoliosis and linked regions on 9q31.3-q34.3 and 16p12.3-q22.2', Human Heredity, vol. 74, no. 1, pp. 36-44. https://doi.org/10.1159/000343751
Miller, Nancy H. ; Justice, Cristina M. ; Marosy, Beth ; Swindle, Kandice ; Kim, Yoonhee ; Roy-Gagnon, Marie Hélène ; Sung, Heejong ; Behneman, Dana ; Doheny, Kimberly ; Pugh, Elizabeth ; Wilson, Alexander F. / Intra-familial tests of association between familial idiopathic scoliosis and linked regions on 9q31.3-q34.3 and 16p12.3-q22.2. In: Human Heredity. 2012 ; Vol. 74, No. 1. pp. 36-44.
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