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Abstract
Adolescent idiopathic scoliosis (AIS) is the most common type of spinal deformity and has a significant genetic background. Genome-wide association studies (GWASs) identified several susceptibility loci associated with AIS. Among them is a locus on chromosome 6q24.1 that we identified by a GWAS in a Japanese cohort. The locus is represented by rs6570507 located within GPR126. To ensure the association of rs6570507 with AIS, we conducted a meta-analysis using eight cohorts from East Asia, Northern Europe and USA. The analysis included a total of 6,873 cases and 38,916 controls and yielded significant association (combined P = 2.95 × 10−20; odds ratio = 1.22), providing convincing evidence of the worldwide association between rs6570507 and AIS susceptibility. In silico analyses strongly suggested that GPR126 is a susceptibility gene at this locus.
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1 Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan
2 Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan
3 Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan; Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan
4 Laboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan
5 Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, Texas, USA
6 Department of Orthopaedics, Sundsvall and Härnösand County Hospital, Sundsvall, Sweden; Department of Clinical Science, Intervention and Technology (CLINTEC) Karolinska Institutet, Stockholm, Sweden
7 Department of Spine Surgery, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China
8 Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China
9 Department of Biochemistry, University of Hong Kong, Hong Kong, China
10 Department of Central Laboratory, 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
11 Department of Orthopaedic Surgery, Meijo Hospital, Nagoya, Japan
12 Department of Orthopaedic Surgery, National Hospital Organization, Kobe Medical Center, Kobe, Japan
13 Department of Advanced Medicine for Spine and Spinal Cord Disorders, Hokkaido University Graduate School of Medicine, Sapporo, Japan
14 Department of Orthopaedic Surgery, Seirei Sakura Citizen Hospital, Sakura, Japan
15 Department of Orthopaedic Surgery, National Hospital Organization, Hokkaido Medical Center, Sapporo, Japan
16 Department of Orthopaedic Surgery, Fukuoka Children’s Hospital, Fukuoka, Japan
17 Department of Orthopaedic Surgery, Dokkyo Medical University School of Medicine, Mibu, Japan
18 Department of Orthopaedic Surgery, Juntendo University School of Medicine, Tokyo, Japan
19 Department of Orthopaedic Surgery, National Defense Medical College, Tokorozawa, Japan
20 Department of Orthopaedic Surgery, Kono Othopaedic Clinic, Tokyo, Japan
21 Department of Orthopaedic Surgery, Saiseikai Central Hospital, Tokyo, Japan
22 Department of Orthopaedic Surgery, Kobe University Graduate School of Medicine, Kobe, Japan
23 Department of Orthopaedic Surgery, Kyushu University Beppu Hospital, Beppu, Japan
24 Department of Orthopaedic Surgery, Graduate School of Medicine, Osaka University, Suita, Japan
25 Department of Orthopedic Surgery, Niigata University Medical and Dental Hospital, Niigata, Japan
26 Department of Orthopedic Surgery, The University of Tokyo Hospital, Tokyo, Japan
27 Department of Orthopaedic Surgery, Toyota Kosei Hospital, Toyota, Japan
28 Department of Orthopaedic Surgery, St. Marianna University School of Medicine, Tokyo, Japan
29 Department of Orthopaedic Surgery, Texas Scottish Rite Hospital for Children, Dallas, Texas, USA
30 Folkhälsan Institute of Genetics, and Molecular Neurology Research Program, University of Helsinki, Helsinki, Finland; Department of Biosciences and Nutrition, , Karolinska Institutet, Huddinge, Sweden
31 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, UK
32 Department of Orthopedics, Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University, Guangzhou, China
33 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
34 Department of Spine Surgery, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China
35 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, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas, USA; Department of Pediatrics, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas, USA; Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas, USA
36 Department of Clinical Science, Intervention and Technology (CLINTEC) Karolinska Institutet, Stockholm, Sweden; Department of Orthopaedics, Karolinska University Hospital, Stockholm, Sweden