TGFB1 as a Susceptibility Gene for High Myopia A Replication Study With New Findings

Abstract

Objective: To investigate the genetic association between transforminggrowth factor beta 1 (TGFB1) gene polymorphisms and high myopia in aChinese population.Methods: Six hundred adults were recruited for this case-control study,including 300 subjects with high myopia (-8.0 diopters or worse) and 300control subjects ( within +/- 1.0 diopters). Seven tag single-nucleotidepolymorphisms ( SNPs) and 1 coding SNP were genotyped. Their frequencieswere compared between cases and controls by statistical tests.Results: Four SNPs in the 5' half of the gene showed significantdifferences in allele and genotype frequencies between cases andcontrols. The results remained significant after correction for multiplecomparisons. The previously reported association of the coding SNPrs1800470 with high myopia was successfully replicated. The tag SNPrs4803455 in intron 2 was found to account for the positive results ofthe other 3 SNPs by stepwise logistic regression. The minor allele T ofrs4803455 was protective against high myopia with an odds ratio of 0.67(95% confidence interval, 0.53-0.86; P=.001).Conclusion: TGFB1 is a myopia susceptibility gene.