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

Japan Scoliosis Clinical Research Group (JSCRG)

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)493-498
Number of pages6
JournalJournal of Human Genetics
Volume64
Issue number5
DOIs
Publication statusPublished - 2019 May 1

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Scoliosis
Meta-Analysis
Genome-Wide Association Study
Adolescent Development
Computer Simulation
Odds Ratio
Confidence Intervals
Genes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis. / Japan Scoliosis Clinical Research Group (JSCRG).

In: Journal of Human Genetics, Vol. 64, No. 5, 01.05.2019, p. 493-498.

Research output: Contribution to journalArticle

Japan Scoliosis Clinical Research Group (JSCRG). / A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis. In: Journal of Human Genetics. 2019 ; Vol. 64, No. 5. pp. 493-498.
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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.",
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AU - Grauers, Anna

AU - Fan, Yan Hui

AU - Ogura, Yoji

AU - Takahashi, Yohei

AU - Momozawa, Yukihide

AU - Einarsdottir, Elisabet

AU - Kere, Juha

AU - Kawakami, Noriaki

AU - Tsuji, Taichi

AU - Uno, Koki

AU - Suzuki, Teppei

AU - Ito, Manabu

AU - Minami, Shohei

AU - Kotani, Toshiaki

AU - Sakuma, Tsuyoshi

AU - Yanagida, Haruhisa

AU - Taneichi, Hiroshi

AU - Yonezawa, Ikuho

AU - Sudo, Hideki

AU - Chiba, Kazuhiro

AU - Hosogane, Naobumi

AU - Nishida, Kotaro

AU - Kakutani, Kenichiro

AU - Akazawa, Tsutomu

AU - Kaito, Takashi

AU - Watanabe, Kei

AU - Harimaya, Katsumi

AU - Taniguchi, Yuki

AU - Shigematsu, Hideki

AU - Demura, Satoru

AU - Iida, Takahiro

AU - Kono, Katsuki

AU - Okada, Eijiro

AU - Fujita, Nobuyuki

AU - Yagi, Mitsuru

AU - Matsumoto, Morio

AU - Qiu, Yong

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