Purpose: EGR1 (OMIM 128990) is an early growth response gene that has been shown to be related to myopia by upregulation and down-regulation of axial eye growth in experimentally induced chicken myopia and knockout mice. The purpose of this study was to test whether variations in the human EGR1 gene are related to high myopia.
Methods: Genomic DNA was prepared from leukocytes of peripheral blood. Cycle sequencing was used to detect sequence variations in EGR1.
Results: No pathological mutations were detected upon sequencing of the coding regions and the adjacent intronic regions of EGR1 in 96 unrelated Chinese subjects with high myopia. Only one silent variation, c.1026G>A (p.V342V), was detected in one patients with high myopia, which would not affect the encoded protein. For all 96 subjects, only one allele was detected in each of the three known single nucleotide polymorphisms (SNPs) in EGR1.
Conclusions: We found no evidence that EGR1 is responsible for high myopia in these patients.