title: Transforming growth factor beta 1 is a novel susceptibility gene for adolescent idiopathic scoliosis.
abstract: METHODS
  A genetic association study of the transforming growth factor beta 1 (TGFB1) gene with adolescent idiopathic scoliosis (AIS) in Russian population.
  
  
  OBJECTIVE
  To determine whether common genetic polymorphisms C-509T (rs1800469) and Arg25Pro (rs1800471) of the TGFB1 gene are associated with susceptibility to AIS.
  
  
  BACKGROUND
  An importance of growth factors for the pathogenesis of AIS has been demonstrated by the findings of abnormal expression of these proteins in the spine and surrounding tissues in patients with AIS. However, no studies have been performed to investigate the relationship between genetic polymorphisms of the TGFB1 gene and susceptibility to AIS.
  
  
  METHODS
  A total of 600 unrelated adolescents from Central Russia (Moscow) were recruited in this study, including 300 patients with AIS and 300 age- and sex-matched healthy adolescents. The polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism.
  
  
  RESULTS
  The allele -509T and genotype -509TT of the TGFB1 gene were significantly associated with the increased risk of idiopathic scoliosis in both females and males (P < 0.01). Logistic regression analysis has revealed a recessive model of the genetic association between polymorphism C-509T of the TGFB1 gene and AIS. Moreover, we found sexual dimorphisms in the relationships of SNP C-509T of the TGFB1 gene with both the age of disease onset and curve severity: the polymorphism was found to determine both an early onset of scoliosis and the severity of curvature in females but not in males (P < 0.05).
  
  
  CONCLUSIONS
  This study, for the first time, highlights the importance of TGFB1 gene for the development and progress of AIS. We hypothesize several mechanisms by which the TGFB1 gene may contribute to spinal deformity in patients with AIS.
authors: *Central Adolescents Clinical Hospital of the Federal Medical Biological Agency, Moscow, Russian Federation †Department of Biology, Medical Genetics and Ecology ‡Department of Medical Biological Disciplines, Belgorod State University, Belgorod, Russian Federation §Department of Physiology and Physiopathology and Medical Biology, SumyState University, Sumy, Ukraine; and ¶Department of Pediatrics, Kursk State Medical University, Kursk, Russian Federation.
authors: Igor I
authors: II
authors: Ryzhkov
authors: Eugeny E
authors: EE
authors: Borzilov
authors: Mikhail I
authors: MI
authors: Churnosov
authors: Alexander V
authors: AV
authors: Ataman
authors: Andrey A
authors: AA
authors: Dedkov
authors: Alexey V
authors: AV
authors: Polonikov
mesh_terms: D000293:Adolescent; D000367:Age Factors; D017668:Age of Onset; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002648:Child; D018450:Disease Progression; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D016015:Logistic Models; D008297:Male; D008957:Models, Genetic; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D012426:Russia / Q000453:epidemiology; D012600:Scoliosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D012720:Severity of Illness Index; D012727:Sex Characteristics; D012737:Sex Factors; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
chemical_list: C508960:TGFB1 protein, human; D053773:Transforming Growth Factor beta1