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

Japan Scoliosis Clinical Research Group (JSCRG)

研究成果: Article

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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.

元の言語English
ページ(範囲)493-498
ページ数6
ジャーナルJournal of Human Genetics
64
発行部数5
DOI
出版物ステータスPublished - 2019 5 1

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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