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

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, Wen Zhang, Jun Qiao, Xu Sun, Xusheng Qiu, Zhou Wang, Fei Wang, Dingding Xie, Ling Chen, Zhonghui Chen, Mengran Jin, Xiao Han, Zongshan Hu, Zhen Zhang, Zhen Liu, Feng Zhu, Bang-ping Qian, Yang Yu, Bing Wang, K. M. Lee, Wayne Y.W. Lee, T. P. Lam, Yong Qiu () and Jack Chun-Yiu Cheng ()
Additional contact information
Zezhang Zhu: the Affiliated Drum Tower Hospital of Nanjing University Medical School
Nelson Leung-Sang Tang: Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University
Leilei Xu: the Affiliated Drum Tower Hospital of Nanjing University Medical School
Xiaodong Qin: the Affiliated Drum Tower Hospital of Nanjing University Medical School
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
Xu Sun: the Affiliated Drum Tower Hospital of Nanjing University Medical School
Xusheng Qiu: the Affiliated Drum Tower Hospital of Nanjing University Medical School
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
Yang Yu: the Affiliated Drum Tower Hospital of Nanjing University Medical School
Bing Wang: the Affiliated Drum Tower Hospital of Nanjing University Medical School
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
Jack Chun-Yiu Cheng: Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University

Nature Communications, 2015, vol. 6, issue 1, 1-6

Abstract: 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.

Date: 2015
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DOI: 10.1038/ncomms9355

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