Identification of candidate regions for familial idiopathic scoliosis

Nancy H. Miller, Cristina M. Justice, Beth Marosy, Kimberly Doheny, Elizabeth Pugh, Jun Zhang, Harry C Dietz, Alexander F. Wilson

Research output: Contribution to journalArticle

Abstract

Study Design. A genomic screen and statistical linkage analysis of 202 families with at least two individuals with idiopathic scoliosis was performed. Objectives, To identify candidate regions or the auto-somal loci that may be involved in the expression of familial idiopathic scoliosis. Summary of Background Data. 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. Conclusion. Linkage analyses have identified several candidate regions, a significant step in defining the genetic etiology of this disorder.

Original languageEnglish (US)
Pages (from-to)1181-1187
Number of pages7
JournalSpine
Volume30
Issue number10
DOIs
StatePublished - May 15 2005

Fingerprint

Scoliosis
Chromosomes, Human, Pair 9
Inborn Genetic Diseases
Chromosomes, Human, Pair 6
Physical Examination

Keywords

  • Autosomal dominant
  • Idiopathic scoliosis
  • Model-independent linkage analysts
  • Stratification

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Orthopedics and Sports Medicine

Cite this

Miller, N. H., Justice, C. M., Marosy, B., Doheny, K., Pugh, E., Zhang, J., ... Wilson, A. F. (2005). Identification of candidate regions for familial idiopathic scoliosis. Spine, 30(10), 1181-1187. https://doi.org/10.1097/01.brs.0000162282.46160.0a

Identification of candidate regions for familial idiopathic scoliosis. / Miller, Nancy H.; Justice, Cristina M.; Marosy, Beth; Doheny, Kimberly; Pugh, Elizabeth; Zhang, Jun; Dietz, Harry C; Wilson, Alexander F.

In: Spine, Vol. 30, No. 10, 15.05.2005, p. 1181-1187.

Research output: Contribution to journalArticle

Miller, NH, Justice, CM, Marosy, B, Doheny, K, Pugh, E, Zhang, J, Dietz, HC & Wilson, AF 2005, 'Identification of candidate regions for familial idiopathic scoliosis', Spine, vol. 30, no. 10, pp. 1181-1187. https://doi.org/10.1097/01.brs.0000162282.46160.0a
Miller NH, Justice CM, Marosy B, Doheny K, Pugh E, Zhang J et al. Identification of candidate regions for familial idiopathic scoliosis. Spine. 2005 May 15;30(10):1181-1187. https://doi.org/10.1097/01.brs.0000162282.46160.0a
Miller, Nancy H. ; Justice, Cristina M. ; Marosy, Beth ; Doheny, Kimberly ; Pugh, Elizabeth ; Zhang, Jun ; Dietz, Harry C ; Wilson, Alexander F. / Identification of candidate regions for familial idiopathic scoliosis. In: Spine. 2005 ; Vol. 30, No. 10. pp. 1181-1187.
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