Identification of candidate regions for familial idiopathic scoliosis

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 autosomal 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.