title: The TGFbeta1 gene codon 10 polymorphism contributes to the genetic predisposition to high myopia.
abstract: OBJECTIVE
  Transforming growth factor-beta (TGFbeta), a multifunctional growth factor that plays a key role in the remodeling of scleral tissue, may be involved in the predisposition and pathophysiology of high myopia. Our aim was to examine the association between myopia and the polymorphisms within codon 10 of the TGFbeta1 gene.
  
  
  METHODS
  This was a case control study. The study group contained participants who had high myopia and a spherical equivalent greater than -6.00 D. The control group was composed of medical students whose spherical equivalent was less then -0.5 D. All volunteers in this study were over 16 years old and had never undergone ocular surgery. Genotyping was conducted by restriction fragment length polymorphism, and the results were compared between myopia patients and control subjects.
  
  
  RESULTS
  The frequency of the CC genotype in TGFbeta1 codon 10 differed significantly between patients in the high myopia group (n=201) and individuals in the control group (n=86; p<0.001). People with either the CT or TT genotype had a lower probability of having high myopia with a spherical equivalent greater than -6.00 D than those with the CC genotype. Furthermore, there was a higher frequency of the C allele in the high myopia group than with the control group (p<0.001, OR=1.83, CI=1.27-2.63).
  
  
  CONCLUSIONS
  The frequency of the CC homozygote in the high myopia group was much higher than in the control group, indicating people with the CC homozygote may be at a higher risk of developing high myopia. Varied expression of this gene may contribute to the genetic predisposition to high myopia in Chinese Taiwanese.
authors.affiliation: Department of Ophthalmology, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Hui-Ju
authors.initials: HJ
authors.lastname: Lin
authors.forename: Lei
authors.initials: L
authors.lastname: Wan
authors.forename: Yuhsin
authors.initials: Y
authors.lastname: Tsai
authors.forename: Yi-Yu
authors.initials: YY
authors.lastname: Tsai
authors.forename: Seng-Sheen
authors.initials: SS
authors.lastname: Fan
authors.forename: Chang-Hai
authors.initials: CH
authors.lastname: Tsai
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D003062:Codon; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006720:Homozygote; D006801:Humans; D009216:Myopia / Q000235:genetics / Q000503:physiopathology*; D011110:Polymorphism, Genetic; D012720:Severity of Illness Index; D013624:Taiwan; D016212:Transforming Growth Factor beta / Q000235:genetics*; D053773:Transforming Growth Factor beta1
chemical_list: D003062:Codon; C508960:TGFB1 protein, human; D016212:Transforming Growth Factor beta; D053773:Transforming Growth Factor beta1