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J Hum Genet. 2019 May;64(5):493-498. doi: 10.1038/s10038-019-0575-7. Epub 2019 Feb 21.

A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis.

Author information

1
Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan.
2
Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan.
3
Department of Orthopaedics, Sundsvall and Härnösand County Hospital, Sundsvall, Sweden.
4
Department of Clinical Science, Intervention and Technology (CLINTEC), Karolinska Institutet, Stockholm, Sweden.
5
Department of Biochemistry, University of Hong Kong, Hong Kong, China.
6
Laboratory for Genotyping Development, Center for Integrative Medical Sciences, RIKEN, Kanagawa, Japan.
7
Folkhälsan Institute of Genetics, and Molecular Neurology Research Program, University of Helsinki, Helsinki, Finland.
8
Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden.
9
Department of Medical and Molecular Genetics, King's College London, Guy's Hospital, London, UK.
10
Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China.
11
Department of Orthopaedics, Karolinska University Hospital, Huddinge, Sweden.
12
Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan. kw197251@keio.jp.
13
Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan. sikegawa@ims.u-tokyo.ac.jp.

Abstract

Adolescent idiopathic scoliosis (AIS) is the most common type of scoliosis. Controlling its curve progression is the most important clinical task. Although recent genome-wide association studies (GWASs) identified several susceptibility loci associated with the development of AIS, the etiology of curve progression has been still unknown. Our previous GWAS has identified that rs12946942 showed significant association with severe AIS. To confirm the association, we conducted an international meta-analysis using four cohorts with different ethnicity. We analyzed 2272 severe AIS cases and 13,859 controls in total, and found the replication of significant association of rs12946942 (combined P = 7.23×10-13; odds ratio = 1.36, 95% confidence interval = 1.25-1.49). In silico analyses suggested that SOX9 is the most likely susceptibility gene for AIS curve progression in the locus.

PMID:
30787423
DOI:
10.1038/s10038-019-0575-7
[Indexed for MEDLINE]

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