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

Japan Scoliosis Clinical Research Group (JSCRG), Texas Scottish Rite Hospital for Children Clinical Group (TSRHCCG)

研究成果: Article査読

17 被引用数 (Scopus)

抄録

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.

本文言語English
論文番号11575
ジャーナルScientific reports
8
1
DOI
出版ステータスPublished - 2018 12 1

ASJC Scopus subject areas

  • 一般

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