TGFB1 codon 10 polymorphism and its association with the development of myopia: a case-control study

Excessive axial elongation in progressive high myopia is associated with scleral remodeling events resulting in diminished sclera-fibril architecture of the eye. Transforming Growth Factor beta (TGF-β) is an important pleotropic growth factor that modulates the levels of specific extracellular matrix (ECM) proteins during scleral remodeling. In the present case-control association study (207 high myopia, 96 low myopia and 250 control cases), we aimed to investigate the genetic association of TGFB1 codon 10 polymorphism at exon1 (T869C) in myopia patients from South Indian population using PCR-RFLP technique. Genotype distribution in high myopia patients did not reveal significant variation, but there was a slight elevation of heterozygote TC frequency (21.2%) compared to control group (16.8%). However, low myopia cases showed elevated CC genotype frequency (14.6%) as compared to controls (8.0%). Elevated CC genotype frequency was observed in low myopia group among males (21.4% vs 9.3%), and cases with early onset (23.1%), familial incidence (17.2%) and with no parental consanguinity (15.5%). Our results suggested that Individuals with CC genotype might carry sex specific risk to myopia progression especially in early onset myopia cases.