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Genome-wide association study identifies new susceptibility loci for adolescent idiopathic scoliosis in Chinese girls

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Listed:
  • Zezhang Zhu

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School
    Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University)

  • Nelson Leung-Sang Tang

    (Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University
    Faculty of Medicine, The Chinese University of Hong Kong
    School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong
    Li Ka Shing Institute of Health Sciences, Faculty of Medicine, The Chinese University of Hong Kong)

  • Leilei Xu

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School
    Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University)

  • Xiaodong Qin

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School
    Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University)

  • Saihu Mao

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School)

  • Yueming Song

    (The West China Hospital, Sichuan University)

  • Limin Liu

    (The West China Hospital, Sichuan University)

  • Fangcai Li

    (The Second Affiliated Hospital of Zhejiang University School of Medicine)

  • Peng Liu

    (China-Japan Union Hospital of Jilin University)

  • Long Yi

    (Jiangsu Key Laboratory for Molecular Medicine, Nanjing University Medical School)

  • Jiang Chang

    (State Key Laboratory of Environment Health (Incubation), MOE (Ministry of Education) Key Laboratory of Environment & Health, Ministry of Environmental Protection Key Laboratory of Environment and Health (Wuhan), School of Public Health, Tongji Medical College, Huazhong University of Science and Technology)

  • Long Jiang

    (Yixing People Hospital)

  • Bobby Kin-Wah Ng

    (Faculty of Medicine, The Chinese University of Hong Kong)

  • Benlong Shi

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School)

  • Wen Zhang

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School)

  • Jun Qiao

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School
    Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University)

  • Xu Sun

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School
    Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University)

  • Xusheng Qiu

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School
    Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University)

  • Zhou Wang

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School)

  • Fei Wang

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School)

  • Dingding Xie

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School)

  • Ling Chen

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School)

  • Zhonghui Chen

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School)

  • Mengran Jin

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School)

  • Xiao Han

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School)

  • Zongshan Hu

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School)

  • Zhen Zhang

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School)

  • Zhen Liu

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School)

  • Feng Zhu

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School)

  • Bang-ping Qian

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School
    Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University)

  • Yang Yu

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School
    Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University)

  • Bing Wang

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School
    Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University)

  • K. M. Lee

    (Li Ka Shing Institute of Health Sciences, Faculty of Medicine, The Chinese University of Hong Kong)

  • Wayne Y.W. Lee

    (Faculty of Medicine, The Chinese University of Hong Kong)

  • T. P. Lam

    (Faculty of Medicine, The Chinese University of Hong Kong)

  • Yong Qiu

    (the Affiliated Drum Tower Hospital of Nanjing University Medical School
    Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University)

  • Jack Chun-Yiu Cheng

    (Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University
    Li Ka Shing Institute of Health Sciences, Faculty of Medicine, The Chinese University of Hong Kong
    Faculty of Medicine, The Chinese University of Hong Kong)

Abstract

Adolescent idiopathic scoliosis (AIS) is a structural deformity of the spine affecting millions of children. As a complex disease, the genetic aetiology of AIS remains obscure. Here we report the results of a four-stage genome-wide association study (GWAS) conducted in a sample of 4,317 AIS patients and 6,016 controls. Overall, we identify three new susceptibility loci at 1p36.32 near AJAP1 (rs241215, Pcombined=2.95 × 10−9), 2q36.1 between PAX3 and EPHA4 (rs13398147, Pcombined=7.59 × 10−13) and 18q21.33 near BCL-2 (rs4940576, Pcombined=2.22 × 10−12). In addition, we refine a previously reported region associated with AIS at 10q24.32 (rs678741, Pcombined=9.68 × 10−37), which suggests LBX1AS1, encoding an antisense transcript of LBX1, might be a functional variant of AIS. This is the first GWAS investigating genetic variants associated with AIS in Chinese population, and the findings provide new insight into the multiple aetiological mechanisms of AIS.

Suggested Citation

  • Zezhang Zhu & Nelson Leung-Sang Tang & Leilei Xu & Xiaodong Qin & Saihu Mao & Yueming Song & Limin Liu & Fangcai Li & Peng Liu & Long Yi & Jiang Chang & Long Jiang & Bobby Kin-Wah Ng & Benlong Shi & W, 2015. "Genome-wide association study identifies new susceptibility loci for adolescent idiopathic scoliosis in Chinese girls," Nature Communications, Nature, vol. 6(1), pages 1-6, December.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms9355
    DOI: 10.1038/ncomms9355
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