title: The TGFB1 gene is associated with curve severity but not with the development of adolescent idiopathic scoliosis: a replication study in the Chinese population.
abstract: BACKGROUND
  The transforming growth factor beta-1 (TGFB1) gene was recently reported to be a new susceptible gene of adolescent idiopathic scoliosis (AIS) in Russian population. This study aimed to replicate the relationship between the TGFB1 gene and the susceptibility of AIS in a Chinese population, and to further describe its association with the curve severity.
  
  
  METHODS
  A total of 1251 female AIS patients and 994 age-matched healthy controls were included in this study. The rs1800469 of TGFB1 gene was genotyped for all participants using the PCR-based Invader assay. The differences of genotype and allele distributions between AIS patients and healthy controls were assessed using the Chi-square test. One-way ANOVA test was used to compare the mean Cobb angles among patients with different genotypes.
  
  
  RESULTS
  There was no significant difference in terms of the genotype and the allele frequency between the patients and the controls. The mean Cobb angle was 34.7 ± 11.9° (range 25-61°). Case-only analysis showed that rs1800469 was significantly associated with the curve severity. Patients with genotype TT had remarkably higher curve magnitude (39.1 ± 12.8°) than those with genotype CT (34.8 ± 11.1°) or CC (32.1 ± 10.6°).
  
  
  CONCLUSIONS
  The TGFB1 gene may not be a predisposition gene of AIS in the Chinese population. However, it can play a role in the curve progression of AIS. Replication studies in other ethnic groups are warranted to understand the implication of TGFB1 gene in 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: Leilei
authors.initials: L
authors.lastname: Xu
authors.affiliation: Department of Spine Surgery, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Zhongshan Road 321, Nanjing, 210008, China.
authors.forename: Weixiang
authors.initials: W
authors.lastname: Sun
authors.affiliation: Department of Spine Surgery, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Zhongshan Road 321, 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, Zhongshan Road 321, Nanjing, 210008, China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Qiu
authors.affiliation: Department of Spine Surgery, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Zhongshan Road 321, Nanjing, 210008, China. zhuzezhang@126.com.
authors.forename: Zezhang
authors.initials: Z
authors.lastname: Zhu
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D018450:Disease Progression; D005260:Female; D006801:Humans; D011159:Population Surveillance / Q000379:methods; D012600:Scoliosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D012720:Severity of Illness Index; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
chemical_list: C508960:TGFB1 protein, human; D053773:Transforming Growth Factor beta1