What is it about?
Although the SOX2 gene mutation could lead to severe phenotypes, it played an important role in eyeball development, which suggested that this gene was probably a candidate for ametropia.we selected SOX2 gene, screened three tag SNPs for sequencing analysis, trying to find out high myopia-related loci to explore the association between SOX2 gene and high myopia.
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Why is it important?
In Chinese population, rs4575941 in SOX2 gene was likely to play some roles in the genetic susceptibility to high myopia, the rs4575941 allele G might be a risk gene for high myopia.
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This page is a summary of: Genetic association study of SOX2 gene polymorphisms with high myopia in a Chinese population, European Journal of Ophthalmology, February 2020, SAGE Publications,
DOI: 10.1177/1120672120904666.
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