TY - JOUR
T1 - Identification of candidate regions for familial idiopathic scoliosis
AU - Miller, Nancy H.
AU - Justice, Cristina M.
AU - Marosy, Beth
AU - Doheny, Kimberly F.
AU - Pugh, Elizabeth
AU - Zhang, Jun
AU - Dietz, Harry C.
AU - Wilson, Alexander F.
PY - 2005/5/15
Y1 - 2005/5/15
N2 - 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.
AB - 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.
KW - Autosomal dominant
KW - Idiopathic scoliosis
KW - Model-independent linkage analysts
KW - Stratification
UR - http://www.scopus.com/inward/record.url?scp=18844369625&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=18844369625&partnerID=8YFLogxK
U2 - 10.1097/01.brs.0000162282.46160.0a
DO - 10.1097/01.brs.0000162282.46160.0a
M3 - Article
C2 - 15897833
AN - SCOPUS:18844369625
SN - 0362-2436
VL - 30
SP - 1181
EP - 1187
JO - Spine
JF - Spine
IS - 10
ER -