Lysyl Oxase Genes and Adolescent Idiopathic Scoliosis
Author Information
Author(s): Tracy L. McGregor, Christina A. Gurnett, Matthew B. Dobbs, Carol A. Wise, Jose A. Morcuende, Thomas M. Morgan, Ramkumar Menon, Louis J. Muglia
Primary Institution: Vanderbilt University School of Medicine
Hypothesis
Common polymorphisms in the five human lysyl oxidase genes may be associated with the phenotype of adolescent idiopathic scoliosis.
Conclusion
Common variants and known coding SNPs in the five human lysyl oxidase genes do not confer increased genotypic risk for adolescent idiopathic scoliosis.
Supporting Evidence
- The study genotyped 112 SNPs in a large cohort of patients with adolescent idiopathic scoliosis.
- No significant associations were found between the lysyl oxidase genes and scoliosis phenotype.
- The study suggests future research should focus on rare variants that may impact scoliosis.
Takeaway
The study looked at genes thought to be linked to scoliosis but found no evidence that these genes affect the condition in teenagers.
Methodology
A case-control genetic association study genotyping 112 SNPs in a discovery cohort of 138 cases and 411 controls, followed by replication in 400 cases and 506 controls.
Potential Biases
The use of an unscreened control population with an assumed AIS prevalence of 3% may have led to misclassification bias.
Limitations
The study was not powered to detect small risks and only included common variants, potentially missing rare variants that could be significant.
Participant Demographics
Cohorts included Caucasian patients with adolescent idiopathic scoliosis and matched controls.
Digital Object Identifier (DOI)
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