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

doi:10.1186/1471-2350-12-92

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

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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 and Louis J Muglia

BMC medical genetics, Vol.12(1), pp.92-92

07/08/2011

DOI: 10.1186/1471-2350-12-92

PMCID: PMC3154146

PMID: 21740577

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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.

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Title: Subtitle: Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype
Creators: Tracy L McGregor - Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232 USA
Christina A Gurnett - Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110 USA
Matthew B Dobbs - Department of Orthopedic Surgery, Washington University School of Medicine, St. Louis, MO 63110 USA
Carol A Wise - Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX 75219 USA
Jose A Morcuende - Department of Orthopedic Surgery and Rehabilitation, University of Iowa, Iowa City, IA 52242 USA
Thomas M Morgan - Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232 USA
Ramkumar Menon - The Perinatal Research Center, Nashville, TN, 37203 USA
Louis J Muglia - Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232 USA
Resource Type: Journal article
Publication Details: BMC medical genetics, Vol.12(1), pp.92-92
DOI: 10.1186/1471-2350-12-92
PMID: 21740577
PMCID: PMC3154146
NLM abbreviation: BMC Med Genet
ISSN: 1471-2350
eISSN: 1471-2350
Publisher: BioMed Central
Language: English
Date published: 07/08/2011
Academic Unit: Stead Family Department of Pediatrics; Orthopedics and Rehabilitation
Record Identifier: 9984040253502771

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