PMID- 23446766
OWN - NLM
STAT- MEDLINE
DCOM- 20151015
LR  - 20150204
IS  - 1528-1159 (Electronic)
IS  - 0362-2436 (Linking)
VI  - 38
IP  - 12
DP  - 2013 May 20
TI  - Transforming growth factor beta 1 is a novel susceptibility gene for adolescent 
      idiopathic scoliosis.
PG  - E699-704
LID - 10.1097/BRS.0b013e31828de9e1 [doi]
AB  - STUDY DESIGN: 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. SUMMARY OF BACKGROUND DATA: 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). CONCLUSION: 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.
FAU - Ryzhkov, Igor I
AU  - Ryzhkov II
AD  - *Central Adolescents Clinical Hospital of the Federal Medical Biological Agency, 
      Moscow, Russian Federation daggerDepartment of Biology, Medical Genetics and Ecology 
      double daggerDepartment of Medical Biological Disciplines, Belgorod State University, 
      Belgorod, Russian Federation  section signDepartment of Physiology and Physiopathology and 
      Medical Biology, SumyState University, Sumy, Ukraine; and  paragraph signDepartment of 
      Pediatrics, Kursk State Medical University, Kursk, Russian Federation.
FAU - Borzilov, Eugeny E
AU  - Borzilov EE
FAU - Churnosov, Mikhail I
AU  - Churnosov MI
FAU - Ataman, Alexander V
AU  - Ataman AV
FAU - Dedkov, Andrey A
AU  - Dedkov AA
FAU - Polonikov, Alexey V
AU  - Polonikov AV
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Spine (Phila Pa 1976)
JT  - Spine
JID - 7610646
RN  - 0 (TGFB1 protein, human)
RN  - 0 (Transforming Growth Factor beta1)
SB  - IM
MH  - Adolescent
MH  - Age Factors
MH  - Age of Onset
MH  - Case-Control Studies
MH  - Chi-Square Distribution
MH  - Child
MH  - Disease Progression
MH  - Female
MH  - Gene Frequency
MH  - Genetic Association Studies
MH  - Genetic Predisposition to Disease
MH  - Haplotypes
MH  - Humans
MH  - Logistic Models
MH  - Male
MH  - Models, Genetic
MH  - Odds Ratio
MH  - Phenotype
MH  - *Polymorphism, Single Nucleotide
MH  - Risk Factors
MH  - Russia/epidemiology
MH  - Scoliosis/diagnosis/epidemiology/*genetics
MH  - Severity of Illness Index
MH  - Sex Characteristics
MH  - Sex Factors
MH  - Transforming Growth Factor beta1/*genetics
EDAT- 2013/03/01 06:00
MHDA- 2015/10/16 06:00
CRDT- 2013/03/01 06:00
PHST- 2013/03/01 06:00 [entrez]
PHST- 2013/03/01 06:00 [pubmed]
PHST- 2015/10/16 06:00 [medline]
AID - 10.1097/BRS.0b013e31828de9e1 [doi]
PST - ppublish
SO  - Spine (Phila Pa 1976). 2013 May 20;38(12):E699-704. doi: 
      10.1097/BRS.0b013e31828de9e1.