title: Genome-wide association study identifies new susceptibility loci for adolescent idiopathic scoliosis in Chinese girls.
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.
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.|Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing 210008, China.
authors.forename: Zezhang
authors.initials: Z
authors.lastname: Zhu
authors.affiliation: Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing 210008, China.|Department of Chemical Pathology, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China.|School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China.|Li Ka Shing Institute of Health Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Nelson Leung-Sang
authors.initials: NL
authors.lastname: Tang
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.|Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing 210008, China.
authors.forename: Leilei
authors.initials: L
authors.lastname: Xu
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.|Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing 210008, China.
authors.forename: Xiaodong
authors.initials: X
authors.lastname: Qin
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.
authors.forename: Saihu
authors.initials: S
authors.lastname: Mao
authors.affiliation: Department of Orthopaedic, The West China Hospital, Sichuan University, Chengdu 610000, China.
authors.forename: Yueming
authors.initials: Y
authors.lastname: Song
authors.affiliation: Department of Orthopaedic, The West China Hospital, Sichuan University, Chengdu 610000, China.
authors.forename: Limin
authors.initials: L
authors.lastname: Liu
authors.affiliation: Department of Orthopaedic, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310000, China.
authors.forename: Fangcai
authors.initials: F
authors.lastname: Li
authors.affiliation: Department of Orthopaedic, China-Japan Union Hospital of Jilin University, Changchun 130022, China.
authors.forename: Peng
authors.initials: P
authors.lastname: Liu
authors.affiliation: Jiangsu Key Laboratory for Molecular Medicine, Nanjing University Medical School, Nanjing 210008, China.
authors.forename: Long
authors.initials: L
authors.lastname: Yi
authors.affiliation: 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, Wuhan 430000, China.
authors.forename: Jiang
authors.initials: J
authors.lastname: Chang
authors.affiliation: Department of Orthopaedic, Yixing People Hospital, Wuxi 214200, China.
authors.forename: Long
authors.initials: L
authors.lastname: Jiang
authors.affiliation: Department of Orthopaedics and Traumatology, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Bobby Kin-Wah
authors.initials: BK
authors.lastname: Ng
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.
authors.forename: Benlong
authors.initials: B
authors.lastname: Shi
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.
authors.forename: Wen
authors.initials: W
authors.lastname: Zhang
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.|Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing 210008, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Qiao
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.|Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing 210008, China.
authors.forename: Xu
authors.initials: X
authors.lastname: Sun
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.|Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing 210008, China.
authors.forename: Xusheng
authors.initials: X
authors.lastname: Qiu
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.
authors.forename: Zhou
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.
authors.forename: Fei
authors.initials: F
authors.lastname: Wang
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.
authors.forename: Dingding
authors.initials: D
authors.lastname: Xie
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.
authors.forename: Ling
authors.initials: L
authors.lastname: Chen
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.
authors.forename: Zhonghui
authors.initials: Z
authors.lastname: Chen
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.
authors.forename: Mengran
authors.initials: M
authors.lastname: Jin
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.
authors.forename: Xiao
authors.initials: X
authors.lastname: Han
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.
authors.forename: Zongshan
authors.initials: Z
authors.lastname: Hu
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.
authors.forename: Zhen
authors.initials: Z
authors.lastname: Zhang
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.
authors.forename: Zhen
authors.initials: Z
authors.lastname: Liu
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Zhu
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.|Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing 210008, China.
authors.forename: Bang-Ping
authors.initials: BP
authors.lastname: Qian
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.|Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing 210008, China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Yu
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.|Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing 210008, China.
authors.forename: Bing
authors.initials: B
authors.lastname: Wang
authors.affiliation: Li Ka Shing Institute of Health Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China.
authors.forename: K M
authors.initials: KM
authors.lastname: Lee
authors.affiliation: Department of Orthopaedics and Traumatology, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Wayne Y W
authors.initials: WYW
authors.lastname: Lee
authors.affiliation: Department of Orthopaedics and Traumatology, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China.
authors.forename: T P
authors.initials: TP
authors.lastname: Lam
authors.affiliation: Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.|Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing 210008, China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Qiu
authors.affiliation: Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing 210008, China.|Li Ka Shing Institute of Health Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China.|Department of Orthopaedics and Traumatology, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Jack Chun-Yiu
authors.initials: JC
authors.lastname: Cheng
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D012600:Scoliosis / Q000235:genetics*