Qi Lin Tang1, Cedric Julien, Robert Eveleigh, Guillaume Bourque, Anita Franco, Hubert Labelle, Guy Grimard, Stefan Parent, Jean Ouellet, Jean-Marc Mac-Thiong, Kristen F Gorman, Alain Moreau. 1. *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.
Abstract
STUDY DESIGN: A replication association study that used genomic data generated from French-Canadian case and control cohorts. OBJECTIVES: 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. SUMMARY OF BACKGROUND DATA: 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. CONCLUSION: 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. LEVEL OF EVIDENCE: 4.
STUDY DESIGN: A replication association study that used genomic data generated from French-Canadian case and control cohorts. OBJECTIVES: 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. SUMMARY OF BACKGROUND DATA: 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. CONCLUSION: 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. LEVEL OF EVIDENCE: 4.
Authors: Dina Nada; Cédric Julien; Pierre H Rompré; Marie-Yvonne Akoume; Kristen F Gorman; Mark E Samuels; Emile Levy; Jason Kost; Dawei Li; Alain Moreau Journal: Sci Rep Date: 2019-04-05 Impact factor: 4.379
Authors: Jiajun Zhang; Ka-Yee Cheuk; Leilei Xu; Yujia Wang; Zhenhua Feng; Tony Sit; Ka-Lo Cheng; Evguenia Nepotchatykh; Tsz-Ping Lam; Zhen Liu; Alec L H Hung; Zezhang Zhu; Alain Moreau; Jack C Y Cheng; Yong Qiu; Wayne Y W Lee Journal: EClinicalMedicine Date: 2020-01-05