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)

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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.

Original languageEnglish
Article number11575
JournalScientific reports
Volume8
Issue number1
DOIs
Publication statusPublished - 01-12-2018

All Science Journal Classification (ASJC) codes

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    Japan Scoliosis Clinical Research Group (JSCRG), & Texas Scottish Rite Hospital for Children Clinical Group (TSRHCCG) (2018). A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis. Scientific reports, 8(1), [11575]. https://doi.org/10.1038/s41598-018-29011-7