Identification of candidate regions for familial idiopathic scoliosis.
METHODS
A genomic screen and statistical linkage analysis of 202 families with at least two individuals with idiopathic scoliosis was performed.


OBJECTIVE
To identify candidate regions or the autosomal loci that may be involved in the expression of familial idiopathic scoliosis.


BACKGROUND
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.


CONCLUSIONS
Linkage analyses have identified several candidate regions, a significant step in defining the genetic etiology of this disorder.
Miller
Nancy H
NH
Johns Hopkins University, Baltimore, MD, USA. nmillerb@jhmi.edu
Justice
Cristina M
CM
Marosy
Beth
B
Doheny
Kimberly F
KF
Pugh
Elizabeth
E
Zhang
Jun
J
Dietz
Harry C
HC
Wilson
Alexander F
AF
D005190:Family; D008040:Genetic Linkage; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D023281:Genomics; D040582:Inheritance Patterns / Q000235:genetics*; D012600:Scoliosis / Q000235:genetics*
D005819:Genetic Markers