Familial idiopathic scoliosis: evidence of an X-linked susceptibility locus

Spine (Phila Pa 1976). 2003 Mar 15;28(6):589-94. doi: 10.1097/01.BRS.0000049940.39801.E6.


Study design: A genomic screen and statistical linkage analysis of a large sample of families with individuals having idiopathic scoliosis was performed.

Objectives: To identify an X-linked susceptibility locus involved in the expression of familial idiopathic scoliosis.

Summary of background data: A large sample of families with individuals having idiopathic scoliosis (202 families; 1198 individuals) were diagnosed through physical examination and radiographic criteria, and genomic screening and genetic linkage analyses were performed.

Methods: Model-independent linkage analysis was used to screen genotyping data from 15 X-linked markers in 202 families (1198 individuals). Families were stratified based on the ratio of the likelihood of an X-linked dominant (XLD) inheritance model relative to that of an autosomal dominant (AD) model. Both model-independent and model-dependent linkage analyses were used to identify potential candidate regions.

Results: When the entire set of families were analyzed with model-independent methods, no result was significant at the 0.05 level for any of the markers. However, when the families were stratified based on the ratio of the likelihood of the X-linked dominant to autosomal dominant mode of inheritance, results from model-dependent linkage analysis of 15% of the families most likely to have X-linked dominant inheritance showed six adjacent markers with positive lod score values and a maximum lod score of 1.69 (theta = 0.2) at marker GATA172D05. A lod score of 2.23 at this same marker was found in a single family with six affected individuals.

Conclusion: The results suggest that a region on the X chromosome may be linked to the expression of familial idiopathic scoliosis in a subset of these families.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Chromosomes, Human, X / genetics
  • Family
  • Female
  • Gene Frequency
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Linkage
  • Genetic Markers
  • Genetic Predisposition to Disease*
  • Genetic Testing
  • Genotype
  • Humans
  • Lod Score
  • Male
  • Penetrance
  • Scoliosis / genetics*


  • Genetic Markers