The TGFβ1 gene codon 10 polymorphism contributes to thegenetic predisposition to high myopia

[摘要] Purpose: Transforming growth factor-β (TGFβ), amultifunctional growth factor that plays a key role in the remodeling ofscleral tissue, may be involved in the predisposition andpathophysiology of high myopia. Our aim was to examine the associationbetween myopia and the polymorphisms within codon 10 of the TGFβ1gene.Methods: This was a case control study. The study group containedparticipants who had high myopia and a spherical equivalent greater than-6.00 D. The control group was composed of medical students whosespherical equivalent was less then -0.5 D. All volunteers in this studywere 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 controlsubjects.Results: The frequency of the CC genotype in TGFβ1 codon 10differed significantly between patients in the high myopia group (n=201)and individuals in the control group (n=86; p<0.001). People witheither the CT or TT genotype had a lower probability of having highmyopia with a spherical equivalent greater than -6.00 D than those withthe CC genotype. Furthermore, there was a higher frequency of the Callele 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 myopiagroup was much higher than in the control group, indicating people withthe CC homozygote may be at a higher risk of developing high myopia.Varied expression of this gene may contribute to the geneticpredisposition to high myopia in Chinese Taiwanese.

[学科分类] 生物化学/生物物理