title: Lack of association between the CHL1 gene and adolescent idiopathic scoliosis susceptibility in Han Chinese: a case-control study.
abstract: BACKGROUND
  A previous genome-wide association study (GWAS) suggested a strong association between the single nucleotide polymorphism (SNP) rs10510181 in the proximity of the gene encoding a cell adhesion molecule with homology to L1CAM (CHL1) and adolescent idiopathic scoliosis (AIS) in Caucasians. To clarify the role of CHL1 in the etiopathogenesis of AIS, we performed a case-control replication study in a Han Chinese population.
  
  
  METHODS
  Five hundred female AIS patients between 10 and 18 years of age, as well as 500 age- and sex-matched controls were included. This study was conducted as a 2-stage case-control analysis: initial screening for the association between AIS and SNPs in and around the CHL1 gene (186 cases and 169 controls) followed by a confirmation test (314 cases and 331 controls). rs10510181 and 4 SNPs (rs2055314, rs331894, rs2272522, and rs2272524) in the CHL1 gene were selected for genotyping.
  
  
  RESULTS
  Putative associations were shown between AIS and rs10510181, rs2055314, and rs2272522 in stage I. However, the associations were not confirmed in stage II. For rs10510181, the genotype frequencies were GG 28.8%, GA 46.2%, and AA 25.0% in AIS patients and GG 29.8%, GA 48.8%, and AA 21.4% in controls. No significant difference was found in genotype distribution between cases and controls (P = 0.39). Similarly, the genotype and allele distribution were comparable between case and control for rs2055314 and rs2272522.
  
  
  CONCLUSIONS
  There was no statistical association between polymorphisms of the CHL1 gene and idiopathic scoliosis in a Chinese population.
authors: Xu-Sheng
authors: XS
authors: Qiu
authors: Feng
authors: F
authors: Lv
authors: Ze-Zhang
authors: ZZ
authors: Zhu
authors: Bang-Ping
authors: BP
authors: Qian
authors: Bin
authors: B
authors: Wang
authors: Yang
authors: Y
authors: Yu
authors: Spine Surgery, Drum Tower Hospital, Nanjing University Medical School, Nanjing, China. scoliosis2002@sina.com.
authors: Yong
authors: Y
authors: Qiu
mesh_terms: D000293:Adolescent; D000367:Age Factors; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D015815:Cell Adhesion Molecules / Q000235:genetics*; D002648:Child; D002681:China / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D012600:Scoliosis / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*
chemical_list: C490650:CHL1 protein, human; D015815:Cell Adhesion Molecules