title: A replication study for association of 53 single nucleotide polymorphisms in ScoliScore test with adolescent idiopathic scoliosis in French-Canadian population.
abstract: METHODS
  A replication association study that used genomic data generated from French-Canadian case and control cohorts.
  
  
  OBJECTIVE
  To determine whether the 53 single nucleotide polymorphisms (SNPs) that were previously associated with spinal deformity progression in an American Caucasian cohort are similarly associated in French-Canadian population.
  
  
  BACKGROUND
  It is widely accepted that genetic factors contribute to adolescent idiopathic scoliosis. The identification of genetic variants associated with the predisposition or progression of curvature could facilitate diagnostic/prognostic tool development. Although 53 SNPs have been associated with spinal curve progression in Caucasian cohorts in the United States, these associations were not replicated in a large Japanese population study, arguing that such a discrepancy could be explained by ethnicity, thus raising the importance of a replication study in an independent Caucasian population of European descent.
  
  
  METHODS
  Genomic data were collected from the French-Canadian population, using the Illumina HumanOmni 2.5M BeadChip. Fifty-two SNPs, tested in ScoliScore or in high linkage disequilibrium with SNPs in the test, were selected to assess their association with scoliosis generally, and with spinal curve progression. One SNP in ScoliScore, rs16909285, could not be evaluated in our Genome-Wide association study.
  
  
  RESULTS
  None of the SNPs used in ScoliScore were associated with adolescent idiopathic scoliosis curve progression or curve occurrence in French-Canadian population. We evaluated 52 SNPs in severe patients by comparing risk allele frequencies with those in nonsevere patients and with those in control individuals. There was no significant difference between the severe group and the nonsevere group or between the severe group and the control group.
  
  
  CONCLUSIONS
  Although the 52 SNPs studied here were previously associated with curve progression in an American population of European descent, we found no association in French-Canadian patients with adolescent idiopathic scoliosis. This second replication cohort suggests that the lack of association of these SNPs in a Japanese cohort is not due to ethnicity.
  
  
  METHODS
  4.
authors: *Viscogliosi Laboratory in Molecular Genetics of Musculoskeletal Diseases, Sainte-Justine University Hospital Research Center, Montréal, Québec, Canada †Department of Biochemistry and Molecular Medicine, Faculty of Medicine, Université de Montréal, Montréal, Québec, Canada ‡Genome Quebec Innovation Center, McGill University, Montréal, Québec, Canada §LIS3D Laboratory, Sainte-Justine University Hospital Research Center, Montréal, Québec, Canada ¶Orthopedic Division, Sainte-Justine University Hospital and Department of Surgery, Faculty of Medicine, Université de Montréal, Montréal, Québec, Canada ‖Orthopedic Division, Montreal Children's Hospital, Department of Surgery, Faculty of Medicine, McGill University, Montréal, Québec, Canada; and **Department of Stomatology, Faculty of Dentistry, Université de Montréal, Montréal, Québec, Canada.
authors: Qi Lin
authors: QL
authors: Tang
authors: Cedric
authors: C
authors: Julien
authors: Robert
authors: R
authors: Eveleigh
authors: Guillaume
authors: G
authors: Bourque
authors: Anita
authors: A
authors: Franco
authors: Hubert
authors: H
authors: Labelle
authors: Guy
authors: G
authors: Grimard
authors: Stefan
authors: S
authors: Parent
authors: Jean
authors: J
authors: Ouellet
authors: Jean-Marc
authors: JM
authors: Mac-Thiong
authors: Kristen F
authors: KF
authors: Gorman
authors: Alain
authors: A
authors: Moreau
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D018450:Disease Progression; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011792:Quebec; D012307:Risk Factors; D012600:Scoliosis / Q000235:genetics*; D012720:Severity of Illness Index; D044465:White People / Q000235:genetics*; D055815:Young Adult