Format

Send to

Choose Destination
Sci Rep. 2018 Aug 1;8(1):11575. doi: 10.1038/s41598-018-29011-7.

A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis.

Author information

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. watakota@gmail.com.
3
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.
7
Department of Clinical Science, Intervention and Technology (CLINTEC) Karolinska Institutet, Stockholm, Sweden.
8
Department of Spine Surgery, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.
9
Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
10
Department of Biochemistry, University of Hong Kong, Hong Kong, China.
11
Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
12
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
13
Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.
14
Folkhälsan Institute of Genetics, and Molecular Neurology Research Program, University of Helsinki, Helsinki, Finland.
15
Department of Biosciences and Nutrition, , Karolinska Institutet, Huddinge, Sweden.
16
Department of Medical and Molecular Genetics, King's College London, Guy's Hospital, London, UK.
17
Department of Orthopedics, Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University, Guangzhou, China.
18
Department of Spine Surgery, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China.
19
McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas, USA.
20
Department of Pediatrics, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas, USA.
21
Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas, USA.
22
Department of Orthopaedics, Karolinska University Hospital, Stockholm, Sweden.
23
Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan. sikegawa@ims.u-tokyo.ac.jp.

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.

PMID:
30069010
PMCID:
PMC6070519
DOI:
10.1038/s41598-018-29011-7
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Nature Publishing Group Icon for PubMed Central
Loading ...
Support Center