Association of PAX6 Gene Polymorphisms With High Myopia

Abstract

Abstract: : Purpose: A myopia locus was reported on chromosome 11p13 and the PAX6 gene postulated to associate with myopia development. We investigated the coding regions of PAX6 for sequence alterations and its association in Hong Kong Chinese patients with high myopia. Methods: A cohort of 200 unrelated high myopia patients and 163 control subjects were screened for SNPs in the coding and adjacent splice–site regions of PAX6. Genomic DNA was extracted from peripheral blood sample for sequence analysis by PCR and direct sequencing. Results: Two sequence changes were identified. One was a heterozygous missense change 680A>G (R119G) in one high myopia patient. It was not found in the controls. The other was a non–coding sequence change, IVS10–12C>T, which was found both in patients and controls with no significant difference (P >0.05) according to Χ²–test. Conclusions: Our results showed R119G to be a possible SNP in PAX6 that is associated with high myopia. Further work is in progress to investigate its segregation with myopia in the family and its functional effect on the PAX protein. Possible myopia related variants in the PAX6 promoter will also be investigated.

Keywords: myopia