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An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis.

Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan. Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan. Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, Texas, USA. Department of Orthopaedics, Sundsvall and Härnösand County Hospital, Sundsvall, Sweden. Department of Clinical Science, Intervention and Technology (CLINTEC) Karolinska Institutet, Stockholm, Sweden. Department of Orthopaedic Surgery, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China. Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China. Department of Biochemistry, University of Hong Kong, Hong Kong, China. Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China. Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China. Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China. Folkhälsan Institute of Genetics, and Molecular Neurology Research Program, University of Helsinki, Helsinki, Finland. Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden. Department of Medical and Molecular Genetics, King's College London, Guy's Hospital, London, United Kingdom. Department of Spine Surgery, The Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University, Guangzhou, China. Department of Spine Surgery, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China. McDermott Center for Human Growth and Development, Department of Pediatrics and Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas, USA. Department of Orthopaedics, Karolinska University Hospital, Huddinge, Sweden. Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan. watakota@gmail.com. Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan. sikegawa@ims.u-tokyo.ac.jp.

Scientific reports. 2018;(1):4730
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Abstract

Adolescent idiopathic scoliosis (AIS) is a common spinal deformity with the prevalence of approximately 3%. We previously conducted a genome-wide association study (GWAS) using a Japanese cohort and identified a novel locus on chromosome 9p22.2. However, a replication study using multi-population cohorts has not been conducted. To confirm the association of 9p22.2 locus with AIS in multi-ethnic populations, we conducted international meta-analysis using eight cohorts. In total, we analyzed 8,756 cases and 27,822 controls. The analysis showed a convincing evidence of association between rs3904778 and AIS. Seven out of eight cohorts had significant P value, and remaining one cohort also had the same trend as the seven. The combined P was 3.28 × 10-18 (odds ratio = 1.19, 95% confidence interval = 1.14-1.24). In silico analyses suggested that BNC2 is the AIS susceptibility gene in this locus.

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Publication Type : Meta-Analysis

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