Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype

Tracy L. McGregor, Christina A. Gurnett, Matthew B. Dobbs, Carol A. Wise, Jose A. Morcuende, Thomas M. Morgan, Ramkumar Menon, Louis J. Muglia

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Background: Although adolescent idiopathic scoliosis affects approximately 3% of adolescents, the genetic contributions have proven difficult to identify. Work in model organisms, including zebrafish, chickens, and mice, has implicated the lysyl oxidase family of enzymes in the development of scoliosis. We hypothesized that common polymorphisms in the five human lysyl oxidase genes (LOX, LOXL1, LOXL2, LOXL3, and LOXL4) may be associated with the phenotype of adolescent idiopathic scoliosis.Methods: This was a case-control genetic association study. A total of 112 coding and tag SNPs in LOX, LOXL1, LOXL2, LOXL3, and LOXL4 were genotyped in a discovery cohort of 138 cases and 411 controls. Genotypes were tested for association with adolescent idiopathic scoliosis by logistic regression with a two degree of freedom genotypic model and gender as a covariate. Fourteen SNPs with p < 0.1 in the discovery phase were genotyped in an independent replication cohort of 400 cases and 506 controls.Results: No evidence for significant association was found between coding or tag SNPs in LOX, LOXL1, LOXL2, LOXL3, and LOXL4 and the phenotype of adolescent idiopathic scoliosis.Conclusions: Despite suggestive evidence in model organisms, common variants and known coding SNPs in the five human lysyl oxidase genes do not confer increased genotypic risk for adolescent idiopathic scoliosis. The above methodology does not address rare variants or individually private mutations in these genes, and future research may focus on this area.

Original languageEnglish (US)
Article number92
JournalBMC Medical Genetics
Volume12
DOIs
StatePublished - Jul 8 2011
Externally publishedYes

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Protein-Lysine 6-Oxidase
Scoliosis
Phenotype
Single Nucleotide Polymorphism
Genes
Genetic Association Studies
Zebrafish
Chickens
Logistic Models
Genotype
Mutation
Enzymes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

McGregor, T. L., Gurnett, C. A., Dobbs, M. B., Wise, C. A., Morcuende, J. A., Morgan, T. M., ... Muglia, L. J. (2011). Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype. BMC Medical Genetics, 12, [92]. https://doi.org/10.1186/1471-2350-12-92

Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype. / McGregor, Tracy L.; Gurnett, Christina A.; Dobbs, Matthew B.; Wise, Carol A.; Morcuende, Jose A.; Morgan, Thomas M.; Menon, Ramkumar; Muglia, Louis J.

In: BMC Medical Genetics, Vol. 12, 92, 08.07.2011.

Research output: Contribution to journalArticle

McGregor, Tracy L. ; Gurnett, Christina A. ; Dobbs, Matthew B. ; Wise, Carol A. ; Morcuende, Jose A. ; Morgan, Thomas M. ; Menon, Ramkumar ; Muglia, Louis J. / Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype. In: BMC Medical Genetics. 2011 ; Vol. 12.
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