TGFβ1 Codon 10 Polymorphism and its Association with the Prevalence of Low Myopia

(1) The Walker School, Marietta, Georgia, (2) Kennesaw State University, Kennesaw, Georgia
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The goal of this project was to assess the relationships among low myopia, behavioral and demographic factors, and a single-nucleotide polymorphism (SNP) in the TGFβ1 gene that codes for an extra-cellular matrix (ECM) protein previously linked to scleral growth. This research study adds a unique perspective as it provides clarity to the inconclusive relationship between low myopia and TGFβ1, and it is the first such association study to include a racial demographic outside of Asia. Genetic data was obtained using real-time PCR, and behavioral and demographic data were acquired through surveys. Genetic results indicated that the variant C allele, and in particular the TC genotype, is associated with the prevalence of low myopia. It was further concluded that the C allele is associated with a greater severity of low myopia and that Asian Indians and East Asians are more likely to have the variant C allele than those of European ancestry. The study also found that environmental factors such as increased reading time, decreased non- stationary exercise, overall reading distance, and other factors are associated with an increased prevalence of myopia. These findings could be helpful in behavioral modification in the prevention of myopia. Additionally, they confirm that both environmental and genetic factors are involved in the development of myopia. Knowing if a person has a genetic polymorphism that would predispose them to myopia could encourage more aggressive behavioral management to prevent its development.

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