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

• Published in: Bulletin of experimental biology and medicine Vol. 176; no. 5; pp. 603 - 606
• Main Authors: Shevchenko, A. V., Prokofiev, V. F., Konenkov, V. I., Chernykh, V. V., Trunov, A. N.
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.03.2024; Springer Nature B.V
• Subjects: Aged; Biomedical and Life Sciences; Biomedicine; Case-Control Studies; Cell Biology; Disease; Female; Gene Frequency - genetics; Gene polymorphism; Genes; Genetic Predisposition to Disease - genetics; Genetics; Genomes; Genotype; Genotype & phenotype; Glaucoma; Glaucoma, Open-Angle - genetics; Growth factors; Heterozygosity; Humans; Internal Medicine; Laboratory Medicine; Ligands; Male; Medical research; Microsurgery; Middle Aged; Pathology; Polymorphism; Polymorphism, Genetic - genetics; Polymorphism, Single Nucleotide - genetics; Proteins; Receptor, Transforming Growth Factor-beta Type I - genetics; Receptor, Transforming Growth Factor-beta Type II - genetics; Receptors, Transforming Growth Factor beta - genetics; Research centers; Siberia; Transforming Growth Factor beta - genetics; Transforming growth factor-b; Womens health; Siberia; polymorphism; primary open-angle glaucoma; transforming growth factor (TGFB); transforming growth factor receptors (TGFBRI, TGFBRII, and TGFBRIIII)
• ISSN: 0007-4888; 1573-8221
• DOI: 10.1007/s10517-024-06076-1

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.