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I.–J. Wang, Y.–F. Shih, Y.–C. Hou, L. Lin; The Association of Single Nucleotide Polymorphism at the PAH and PAX6 Genes With Susceptibility to High Myopia . Invest. Ophthalmol. Vis. Sci. 2005;46(13):3210.
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Purpose: To evaluate the relationship between two single nucleotide polymorphisms (SNPs) of PAH and PAX6, and high myopia. Methods: We collected 89 adult patients with high myopia (<–10.0 D) and 111 controls with –1.5 to 0.5 D to study the association of the PAH and PAX6 genes with high myopia. All of these subjects were free of ocular diseases except myopia and other systemic genetic diseases. Genotyping was performed by direct sequencing after PCR amplification of chromosomal DNA. Allele frequencies were tested for Hardy–Weinberg equilibrium (HWE). The Χ2 or Fishder test was conducted to investigate the genotypic and allelic distribution between high myopia and control groups. Results: The genotyping successful rate was 98.2 %. The genotype distribution was not deviated from HWE. For PAH gene (rs3828474), and PAX6 genes (rs2071754, rs644242, rs2071164, rs1894620) there was no significant difference for decorin and DSPG genes. Conclusions: Our results reveal that there was no association of PAH and PAX6 genes with the development of high myopia.
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