Journal
HUMAN HEREDITY
Volume 74, Issue 1, Pages 36-44Publisher
KARGER
DOI: 10.1159/000343751
Keywords
Idiopathic scoliosis; Chromosome 9; Chromosome 16; Genetic heterogeneity; Genetics; Association; Family-based association study; Complex disease
Categories
Funding
- Center for Inherited Disease Research (National Institutes of Health) [N01-HG-65403]
- Center for Inherited Disease Research (National Center for Research Resources) [1 P41 RR03655]
- LARRK Foundation
- Institute de France Foundation Yves Cotrel
- National Institutes of Health [R01-AR048862-01A1]
- Division of Intramural Research of the National Human Genome Research Institute, National Institutes of Health
Ask authors/readers for more resources
Objective: Custom genotyping of markers in families with familial idiopathic scoliosis were used to fine-map candidate regions on chromosomes 9 and 16 in order to identify candidate genes that contribute to this disorder and prioritize them for next-generation sequence analysis. Methods: Candidate regions on 9q and 16p-16q, previously identified as linked to familial idiopathic scoliosis in a study of 202 families, were genotyped with a high-density map of single nucleotide polymorphisms. Tests of linkage for fine-mapping and intra-familial tests of association, including tiled regression, were performed on scoliosis as both a qualitative and quantitative trait. Results and Conclusions: Nominally significant linkage results were found for markers in both candidate regions. Results from intra-familial tests of association and tiled regression corroborated the linkage findings and identified possible candidate genes suitable for follow-up with next-generation sequencing in these same families. Candidate genes that met our prioritization criteria included FAM129B and CERCAM on chromosome 9 and SYT1, GNAO1, and CDH3 on chromosome 16. Copyright (C) 2012 S. Karger AG, Basel
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available