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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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1 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
2 Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan
3 Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, Texas, USA
4 Department of Orthopaedics, Sundsvall and Härnösand County Hospital, Sundsvall, Sweden; Department of Clinical Science, Intervention and Technology (CLINTEC) Karolinska Institutet, Stockholm, Sweden
5 Department of Orthopaedic Surgery, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China
6 Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China
7 Department of Biochemistry, University of Hong Kong, Hong Kong, China
8 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
9 Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan
10 Department of Orthopaedic Surgery, Meijo Hospital, Nagoya, Japan
11 Department of Orthopaedic Surgery, National Hospital Organization, Kobe Medical Center, Kobe, Japan
12 Department of Orthopaedic Surgery, National Hospital Organization, Hokkaido Medical Center, Sapporo, Japan
13 Department of Orthopaedic Surgery, Seirei Sakura Citizen Hospital, Sakura, Japan
14 Department of Orthopaedic Surgery, Fukuoka Children’s Hospital, Fukuoka, Japan
15 Department of Orthopaedic Surgery, Dokkyo Medical University School of Medicine, Mibu, Japan
16 Department of Orthopaedic Surgery, Juntendo University School of Medicine, Tokyo, Japan
17 Department of Advanced Medicine for Spine and Spinal Cord Disorders, Hokkaido University Graduate School of Medicine, Sapporo, Japan
18 Department of Orthopaedic Surgery, National Defense Medical College, Tokorozawa, Japan
19 Department of Orthopaedic Surgery, Kobe University Graduate School of Medicine, Kobe, Japan
20 Department of Orthopaedic Surgery, St. Marianna University School of Medicine, Kawasaki, Japan
21 Department of Orthopaedic Surgery, Osaka University Graduate School of Medicine, Suita, Japan
22 Department of Orthopaedic Surgery, Niigata University Hospital, Niigata, Japan
23 Department of Orthopaedic Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
24 Department of Orthopaedic Surgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan
25 Department of Orthopaedic Surgery, Nara Medical University, Nara, Japan
26 Department of Orthopaedic Surgery, Kanazawa University School of Medicine, Kanazawa, Japan
27 Department of Orthopaedic Surgery, Dokkyo Medical University Koshigaya Hospital, Koshigaya, Japan
28 Department of Orthopaedic Surgery, Kono Othopaedic Clinic, Tokyo, Japan
29 Department of Orthopaedic Surgery, Texas Scottish Rite Hospital for Children, Dallas, Texas, USA
30 Department of Orthopaedic Surgery, Shriners Hospitals for Children, Lexington, Kentucky, USA
31 Department of Orthopaedic Surgery, Children’s Hospital of Wisconsin, Milwaukee, Wisconsin, USA
32 OrthoArizona, Phoenix, Arizona, USA
33 Departments of Orthopedics, Sports Medicine, and Surgical Services, Akron Children’s Hospital, Akron, Ohio, USA
34 Pediatric Orthopaedics and Scoliosis, Hasbro Children’s Hospital, Providence, Rhode Island, USA
35 University of Massachusetts Memorial Medical Center, Worcester, Massachusetts, USA
36 Indiana University-Purdue University Indianapolis, Indianapolis, Indiana, USA
37 University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA
38 Folkhälsan Institute of Genetics, and Molecular Neurology Research Program, University of Helsinki, Helsinki, Finland; Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden
39 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
40 Department of Spine Surgery, The Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University, Guangzhou, China
41 Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and 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
42 Department of Spine Surgery, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China
43 Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, Texas, USA; 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
44 Department of Clinical Science, Intervention and Technology (CLINTEC) Karolinska Institutet, Stockholm, Sweden; Department of Orthopaedics, Karolinska University Hospital, Huddinge, Sweden