Purpose: To determine whether single-nucleotide polymorphisms (SNPs) within the transforming growth factor-beta1 (TGF-beta1) gene are associated with high myopia in Japanese. Previous studies have indicated that the gene expression products, regulators of the TGF-beta1 gene, are involved in high myopia.
Methods: Genomic DNA samples were obtained from 330 Japanese patients with high myopia and 330 Japanese controls without high myopia who were chosen at random. SNPs were genotyped by the TaqMan system, using primer extension and polymerase chain reaction amplification.
Results: Ten SNPs were identified in the high-myopia patients and controls, with four of the ten SNPs having nonsynonymous changes. However, no statistical differences in the SNPs were detected between the high-myopia cases and the controls.
Conclusions: Sequence variants of the TGF-beta1 gene were not associated significantly with high myopia, and further studies are needed to identify which genes are responsible for high myopia.