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.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Kou I,Watanabe K,Takahashi Y,Momozawa Y,Khanshour A,Grauers A,Zhou H,Liu G,Fan YH,Takeda K,Ogura Y,Zhou T,Iwasaki Y,Kubo M,Wu Z,Matsumoto M,Japan Scoliosis Clinical Research Group (JSCRG).,Texas Scottish Rite Hospital fdoi
10.1038/s41598-018-29011-7subject
Has Abstractpub_date
2018-08-01 00:00:00pages
11575issue
1issn
2045-2322pii
10.1038/s41598-018-29011-7journal_volume
8pub_type
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