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Polymorphism of Transforming Growth Factor TGFB and Its Receptors TGFBRI, TGFBRII, TGFBRIIII Genes in Western Siberia Patients with Open-Angle Glaucoma

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Polymorphism of genes of transforming growth factor TGFB and its receptors (TGFBRI, TGFBRII, and TGFBRIIII) in patients with primary open-angle glaucoma was analyzed. The frequency of the TGFBRII CC genotype in patients is increased relative to the control group (OR=6.10, p=0.0028). Heterozygosity in this polymorphic position is reduced (OR=0.18, p=0.0052). As the effects of TGF-β is mediated through its receptors, we analyzed complex of polymorphic variants of the studied loci in the genome of patients. Two protective complexes consisting only of receptor genes were identified: TGFBRI TT:TGFBRII CG (OR=0.10, p=0.02) and TGFBRII CG:TGFBRIII CG (OR=0.09, p=0.01). The study showed an association of TGFBRII polymorphism with primary open-angle glaucoma and the need to study functionally related genes in the development of the disease, which should contribute to its early diagnosis and prevention.

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Authors and Affiliations

  1. Institute of Clinical and Experimental Lymphology — Branch of Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia

    A. V. Shevchenko, V. F. Prokofiev & V. I. Konenkov

  2. S. N, Fedorov National Medical Research Center Multisectoral Scientific and Technical Complex “Eye Microsurgery”, Ministry of Health of the Russian Federation, Novosibirsk, Russia

    V. V. Chernykh & A. N. Trunov

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  1. A. V. Shevchenko
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  2. V. F. Prokofiev
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  3. V. I. Konenkov
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  4. V. V. Chernykh
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  5. A. N. Trunov
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Correspondence to A. V. Shevchenko.

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Translated from Byulleten’ Eksperimental’noi Biologii i Meditsiny, Vol. 176, No. 11, pp. 621-625, November, 2023

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Shevchenko, A.V., Prokofiev, V.F., Konenkov, V.I. et al. Polymorphism of Transforming Growth Factor TGFB and Its Receptors TGFBRI, TGFBRII, TGFBRIIII Genes in Western Siberia Patients with Open-Angle Glaucoma. Bull Exp Biol Med 176, 603–606 (2024). https://doi.org/10.1007/s10517-024-06076-1

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