title: Association between common variants near LBX1 and adolescent idiopathic scoliosis replicated in the Chinese Han population.
abstract: BACKGROUND
  Adolescent idiopathic scoliosis (AIS) is one of the most common spinal deformities found in adolescent populations. Recently, a genome-wide association study (GWAS) in a Japanese population indicated that three single nucleotide polymorphisms (SNPs), rs11190870, rs625039 and rs11598564, all located near the LBX1 gene, may be associated with AIS susceptibility [1]. This study suggests a novel AIS predisposition candidate gene and supports the hypothesis that somatosensory functional disorders could contribute to the pathogenesis of AIS. These findings warrant replication in other populations.
  
  
  RESULTS
  First, we conducted a case-control study consisting of 953 Chinese Han individuals from southern China (513 patients and 440 healthy controls), and the three SNPs were all found to be associated with AIS predisposition. The ORs were observed as 1.49 (95% CI 1.23-1.80, P = 5.09E-5), 1.70 (95% CI 1.42-2.04, P = 1.17E-8) and 1.52 (95% CI 1.27-1.83, P = 5.54E-6) for rs625039, rs11190870 and rs11598564, respectively. Second, a case-only study including a subgroup of AIS patients (N = 234) was performed to determine the effects of these variants on the severity of the condition. However, we did not find any association between these variants and the severity of curvature.
  
  
  CONCLUSIONS
  This study shows that the genetic variants near the LBX1 gene are associated with AIS susceptibility in Chinese Han population. It successfully replicates the results of the GWAS, which was performed in a Japanese population.
authors: Department of Orthopedic Surgery, The First Affiliated Hospital of Sun Yat-sen University, Guangdong, China.
authors: Wenjie
authors: W
authors: Gao
authors: Yan
authors: Y
authors: Peng
authors: Guoyan
authors: G
authors: Liang
authors: Anjing
authors: A
authors: Liang
authors: Wei
authors: W
authors: Ye
authors: Liangming
authors: L
authors: Zhang
authors: Swarkar
authors: S
authors: Sharma
authors: Peiqiang
authors: P
authors: Su
authors: Dongsheng
authors: D
authors: Huang
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002681:China / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012600:Scoliosis / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D013131:Spine / Q000378:metabolism / Q000473:pathology*; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult
chemical_list: D018398:Homeodomain Proteins; C542809:LBX1 protein, human; D014157:Transcription Factors