title: Genetic Polymorphism of LBX1 Is Associated With Adolescent Idiopathic Scoliosis in Northern Chinese Han Population.
abstract: METHODS
  A case-control association study was performed to investigate the relationship between ladybird homeobox (LBX1) and adolescent idiopathic scoliosis (AIS) in northern Chinese Han population.
  
  
  OBJECTIVE
  To explore the prevalence and functional importance of LBX1 polymorphisms in patients with AIS within the northern Chinese Han population.
  
  
  BACKGROUND
  AIS is the most common subtype of idiopathic scoliosis. Genetic factors such as LBX1 polymorphisms have been recently proved to be associated with AIS in some populations. In this study we explored the prevalence and functional importance of the polymorphisms around LBX1 in patients with AIS within the northern Chinese Han population.
  
  
  METHODS
  Five tag single nucleotide polymorphisms (SNPs) around or in LBX1 were genotyped in 180 patients with AIS and 182 controls. And the luciferase assay was performed to explore the functional importance of the most significant SNPs.
  
  
  RESULTS
  We replicated that rs11190870, previously reported as the most significantly associated SNP, was enriched in our AIS cohort. In addition, we found that the T allele of rs1322331 was associated with a novel risk allele (odds ratio = 3.349, 95% confidence interval 1.742-6.436). In the following luciferase assay, the TT-type promoter showed significantly reduced transcription activity in vitro.
  
  
  CONCLUSIONS
  Two SNPs around LBX1, rs11190870 and rs1322331 are associated with AIS in northern Chinese Han population. The T allele of rs1322331 is a novel risk allele. We hypothesize that rs1322331 might increase patients' susceptibility to AIS by reducing LBX1-AS1 transcription and thus upregulating the function of LBX1.
  
  
  METHODS
  3.
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.|Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.|Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Sen
authors.initials: S
authors.lastname: Liu
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.|Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.|Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Nan
authors.initials: N
authors.lastname: Wu
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.
authors.forename: Yuzhi
authors.initials: Y
authors.lastname: Zuo
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.
authors.forename: Yangzhong
authors.initials: Y
authors.lastname: Zhou
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.
authors.forename: Jiaqi
authors.initials: J
authors.lastname: Liu
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.
authors.forename: Zhenlei
authors.initials: Z
authors.lastname: Liu
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.
authors.forename: Weisheng
authors.initials: W
authors.lastname: Chen
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.
authors.forename: Gang
authors.initials: G
authors.lastname: Liu
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.
authors.forename: Yixin
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.
authors.forename: Jia
authors.initials: J
authors.lastname: Chen
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.
authors.forename: Mao
authors.initials: M
authors.lastname: Lin
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.
authors.forename: Yanxue
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
authors.forename: Yue
authors.initials: Y
authors.lastname: Ming
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.
authors.forename: Tangmi
authors.initials: T
authors.lastname: Yuan
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.
authors.forename: Xiao
authors.initials: X
authors.lastname: Li
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.
authors.forename: Zenan
authors.initials: Z
authors.lastname: Xia
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.
authors.forename: Xu
authors.initials: X
authors.lastname: Yang
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.
authors.forename: Yufen
authors.initials: Y
authors.lastname: Ma
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.
authors.forename: Jianguo
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.
authors.forename: Jianxiong
authors.initials: J
authors.lastname: Shen
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.
authors.forename: Shugang
authors.initials: S
authors.lastname: Li
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.
authors.forename: Yipeng
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.
authors.forename: Hong
authors.initials: H
authors.lastname: Zhao
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.
authors.forename: Keyi
authors.initials: K
authors.lastname: Yu
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.|Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.|Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Xisheng
authors.initials: X
authors.lastname: Weng
authors.affiliation: Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P.R. China.|Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.|Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Guixing
authors.initials: G
authors.lastname: Qiu
authors.affiliation: Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.|Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Zhihong
authors.initials: Z
authors.lastname: Wu
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies / Q000379:methods*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011159:Population Surveillance / Q000379:methods; D012600:Scoliosis / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C542809:LBX1 protein, human; D014157:Transcription Factors