title: Lack of association between suppressor of cytokine signaling-3 gene polymorphism and susceptibility and curve severity of adolescent idiopathic scoliosis.
abstract: OBJECTIVE
  To explore whether the suppressor of cytokine signaling-3 (SOCS3) gene polymorphisms are associated with the susceptibility and abnormal growth pattern of adolescent idiopathic scoliosis (AIS).
  
  
  METHODS
  Three hundred and ninety eight AIS girls aged 10-18 years old were enrolled, and 367 age-matched healthy girls were recruited as controls. Only patients who had Cobb angles larger than 20º were included in this study. Anthropometric parameters including body weight, height, and body mass index (BMI) were measured for AIS girls. Rs4969198 was selected as tagSNP to cover all of the related polymorphisms on SOCS3. Genotyping was performed using PCR-based Invader assay with the probe sets designed and synthesized by third wave. The genotyping results were read with an ABI PRISM7900HT sequence detection system (Applied Biosystems, Foster City, CA). A subgroup of 322 skeletally mature AIS patients who did not received bracing or any other conservative treatment previously were analyzed to define the contribution of rs4969168 on curve severity, body height, body weight, and BMI.
  
  
  RESULTS
  Rs4969198 was successfully genotyped. No significant difference of genotype frequencies from the Hardy-Weinberg equilibrium (HWE) test was noted for the AIS patients or the normal controls. Neither the genotype nor the allele frequencies of rs49691968 were significantly different between the AIS patients and the normal controls. Rs4969168 was not found to be associated with age, curve severity of scoliosis, and body height. AIS patients with AA genotype had significantly higher body weight and BMI than the patients with AG and GG genotype (P = 0.014).
  
  
  CONCLUSIONS
  The SOCS3 gene polymorphisms are not associated with the occurrence of AIS, but the gene polymorphism (rs4969168) is associated with abnormal growth pattern of AIS, indicating that SOCS3 gene might be a disease-modifying gene of AIS.
authors.affiliation: Department of Spine Surgery, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Zhongshan Road 321, Nanjing, 210008, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Zhu
authors.forename: Jun
authors.initials: J
authors.lastname: Qiao
authors.forename: Xusheng
authors.initials: X
authors.lastname: Qiu
authors.forename: Leilei
authors.initials: L
authors.lastname: Xu
authors.forename: Zhen
authors.initials: Z
authors.lastname: Liu
authors.forename: Zezhang
authors.initials: Z
authors.lastname: Zhu
authors.forename: Bangping
authors.initials: B
authors.lastname: Qian
authors.forename: Xu
authors.initials: X
authors.lastname: Sun
authors.forename: Yong
authors.initials: Y
authors.lastname: Qiu
mesh_terms: D000293:Adolescent; D015992:Body Mass Index; D001835:Body Weight; D016022:Case-Control Studies; D002648:Child; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D012600:Scoliosis / Q000235:genetics*; D012720:Severity of Illness Index; D000071223:Suppressor of Cytokine Signaling 3 Protein; D050826:Suppressor of Cytokine Signaling Proteins / Q000235:genetics*
chemical_list: C106644:SOCS3 protein, human; D000071223:Suppressor of Cytokine Signaling 3 Protein; D050826:Suppressor of Cytokine Signaling Proteins