Поліморфізм rs1800469 гена TGF-β1 у дітей різним ступенем міопії

N.V. Malachkova; D.A. Yatsenko; G.P. Ljudkevich; V.M. Shkarupa

doi:10.31288/oftalmolzh201854548

Authors

N.V. Malachkova Vinnytsia National Pirogov Memorial Medical University; Vinnytsia (Ukraine)
D.A. Yatsenko Vinnytsia National Pirogov Memorial Medical University; Vinnytsia (Ukraine)
G.P. Ljudkevich Vinnytsia National Pirogov Memorial Medical University; Vinnytsia (Ukraine)
V.M. Shkarupa Vinnytsia National Pirogov Memorial Medical University; Vinnytsia (Ukraine)

DOI:

https://doi.org/10.31288/oftalmolzh201854548

Keywords:

myopia, sclera, TGF-β1, polymorphism

Abstract

Background: TGF-β is a key intrascleral mediator of extracellular matrix remodeling.

Purpose: To investigate the pattern of allele frequency and genotype distribution for TGF-β1 gene rs1800469 among the Ukrainian Podillia region’s pediatric population with different degrees of myopia.

Materials and Methods: Real-time polymerase chain reaction was used for genotyping for TGF-β1 gene rs1800469 in 105 children (210 eyes) with different degrees of myopia and 107 emmetropic children.

Results: Compared to controls, significant differences in allele and genotype frequencies for the SNP under investigation were found only in the high myopia group. The presence of the C allele of TGF-β1 -509 C>T (rs1800469) was found to increase the risk for developing high myopia (OR = 2.44, 95% CI, 1.17–5.08; p = 0.02). The presence of a variant T allele was found to have an additive protective effect against developing high myopia in the CT genotype carriers (OR = 0.85, 95% CI, 0.34–2.16; p = 0.02) and TT genotype carriers (OR = 0.16; 95% CI, 0.02–1.29; p = 0.02).

Conclusion: To our best knowledge, this study is the first to demonstrate that the CC genotype of rs1800469 is associated with the risk of the development of high myopia in a European population.

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