Evidence map›Paper›PMID 21740577›Full record

ArticleBMC medical genetics2011

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

Open access · goldAbstract read
In one paragraph

Article in BMC medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.7field-weighted citation impact, top 31% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 30 citations in OpenAlex.

  1. The genetic epidemiology of idiopathic scoliosis.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2012
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 7 institutions in 1 country.

Tracy L McGregorDepartment of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA. tracy.mcgregor@vanderbilt.edu
Christina A Gurnett
Matthew B Dobbs
Carol A Wise
Jose A Morcuende
Thomas M Morgan
Ramkumar Menon
Louis J Muglia
Vanderbilt University · USCenter for Human Genetics · USEmory University · USShriners Hospitals for Children - St. Louis · USThe University of Texas Southwestern Medical Center · USUniversity of Iowa · USWashington University in St. Louis · US

Funding

VANDERBILT UNIVERSITY CTSA FOR PEDIATRIC RESEARCHUL1RR024975 · NCRR · VANDERBILT UNIVERSITY · PI BERNARD, GORDON RAPHAEL · 2007 to 2011
$45.7M
Vanderbilt Environmental Health Science Scholars ProgramK12ES015855 · NIEHS · VANDERBILT UNIVERSITY · PI BROWN, NANCY J. · 2007 to 2011
$3.5M
Identification of Genetic Susceptibility in Adolescent Idiopathic ScoliosisR01HD052973 · NICHD · UT SOUTHWESTERN MEDICAL CENTER · PI WISE, CAROL A · 2008 to 2012
$2.8M
NCRR NIH HHS 1 UL1 RR024975NICHD NIH HHS R01 HD052973NIEHS NIH HHS K12 ES015855
6 · The paper itself

Abstract

backgroundAlthough 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.

methodsThis 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.

resultsNo 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.

conclusionsDespite 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.

Indexed as

AdolescentAmino Acid OxidoreductasesCase-Control StudiesCohort StudiesCopperGenetic Association StudiesGenotypeHumansLogistic ModelsOdds RatioPhenotypePolymorphism, Single NucleotideProtein-Lysine 6-OxidaseScoliosisAmino Acid OxidoreductasesCopperLOXL1 protein, humanLOXL2 protein, humanLOXL3 protein, humanLOXL4 protein, humanProtein-Lysine 6-Oxidase

Identifiers

PMID21740577
PMCPMC3154146
OpenAlexW2060246450

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.