J.ophthalmol.(Ukraine).2018;5:45-48.
https://doi.org/10.31288/oftalmolzh201854548
Received: 03 August 2018; Published on-line: 26 October 2018
Polymorphism of TGF-β1 (rs1800469) in children with different degrees of myopia
N.V. Malachkova, Cand Sc (Med); D.A. Yatsenko, Postgraduate Student; G.P. Ljudkevich; V.M. Shkarupa, Cand Sc (Biol)
Vinnytsia National Pirogov Memorial Medical University;
Vinnytsia (Ukraine)
E-mail: malachkovanataliia@gmail.com, dr.yatsengo@gmail.com
TO CITE THIS ARTICLE: Malachkova NV, Yatsenko DA, Ljudkevich GP, Shkarupa VM. Polymorphism of TGF-β1 (rs1800469) in children with different degrees of myopia. J.ophthalmol.(Ukraine).2018;5:45-48. https://doi.org/10.31288/oftalmolzh201854548
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.
Keywords: myopia, sclera, TGF-β1, polymorphism
References
- Holden BA, Fricke TR, Wilson DA, et al. Global prevalence of myopia and high myopia and temporal trends from 2000 through 2050. Ophthalmology. 2016 May;123(5):1036-42.
Crossref Pubmed - Chiang PP-C, Fenwick E, Cheung CMG, Lamoureux EL. Public health impact of pathologic myopia. In: Spaide RF, Ohno-Matsui K, Yannuzzi LA, eds. Pathologic Myopia. New York: Springer-Verlag; 2014:75-81.
Crossref - Morgan IG, Ohno-Matsui K, Saw SM. Myopia. Lancet. 2012;379:1739–48.
Crossref Pubmed - Metlapally R, Wildsoet CF. Scleral mechanisms underlying ocular growth and myopia. Prog Mol Biol Transl Sci. 2015;134:241-8.
Crossref Pubmed - Summers J. A. The sclera and its role in regulation of the refractive state. In: Spaide R, Ohno-Matsui K, Yannuzzi L, editors. Pathologic Myopia. New York, NY: Springer 2014:59-74.
Crossref - Jobling AI, Wan R, Gentle A, and McBrien NA. TGF-Beta as an intrascleral mediator of remodeling during myopia development: Regulation of scleral ptoteogleacans. Invest Ophth Vis Sci. 2008;49(13):1735.
- Jobling AI, Nguyen M, Gentle A, McBrien NA. Isoform-specific changes in scleral transforming growth factor-β expression and the regulation of collagen synthesis during myopia progression. J Biol Chem. 2004;279(18):18121–6.
- McBrien N. A. Regulation of scleral metabolism in myopia and the role of transforming growth factor-beta. Exp Eye Res. 2013 Sep;114:128-40.
- Lam DSC, Lee WS, Leung YF, et al. TGFβ-induced factor; a candidate gene for high myopia. Invest Ophthal Vis Sci. 2003;44:1012–5.
- Lin HJ, Wan L, Tsai Y, et al. Sclera-related gene polymorphisms in high myopia. Mol Vis. 2009 Aug 20;15:1655-63.
- Meng B, Li SM, Yang Y, Yang ZR. The association of TGFB1 genetic polymorphisms with high myopia:a systematic review and meta-analysis. Int J Clin Exp Med. 2015;15(8(11)):20355–67.
- Rasool S, Ahmed I, Dar R, Ayub SG, et al. Contribution of TGFβ1 codon 10 polymorphism to high myopia in an ethnic Kashmiri population from India. Biochem Genet. 2013 Apr;51(3-4):323-33.
- Biler ED, Ilim O, Palamar M, et al.TGFB1 and LAMA1 gene polymorphisms in children with high myopia. Pak J Med Sci. 2018 Mar-Apr;34(2):463-7.
- Sandhya A, Bindu C, Reddy K, Vishnupriya S. TGFB1 codon 10 polymorphism and its association with the development of myopia: a case-control study. Biol Med. 2011;3(4):18–24.
- Martelossi CGC, Paiva TK, Badaro GS, et al. TGF-β1 functional polymorphisms: a review. Eur Cyrokine Review. 2016 Nov 1;27(4):81-9.
- Jiang B, Wu ZY, Zhu ZC, et al. Expression and role of specificity protein 1 in the sclera remodeling of experimental myopia in guinea pigs. Int J Ophthalmol. 2017 Apr 18;10(4):550-4.
- Shah R, Hurley CK, Posch PE. A molecular mechanism for the differential regulation of TGF-β1 expression due to the common SNP− 509C-T (c.− 1347C> T). Hum Genet. 2006 Nov;120(4):461-9.
- Avetisov ES. [Myopia]. Moscow: Meditsina; 2002. Russian
- Ohno-Matsui K. Sclera-targeted therapies for pathologic myopia. In: Spaide R, Ohno-Matsui K, Yannuzzi L, editors. Pathologic Myopia. New York, NY: Springer 2014:353-60.