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.
S. N, Fedorov National Medical Research Center Multisectoral Scientific and Technical Complex "Eye Microsurgery", Ministry of Health of the Russian Federation, Novosibirsk, Russia.
Bull Exp Biol Med. 2024 Mar;176(5):603-606. doi: 10.1007/s10517-024-06076-1. Epub 2024 May 11.
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.
分析了原发性开角型青光眼患者转化生长因子 TGFB 及其受体（TGFBRI、TGFBRII 和 TGFBRIIII）基因的多态性。与对照组相比，患者 TGFBRII CC 基因型的频率增加（OR=6.10，p=0.0028）。该多态性位置的杂合性降低（OR=0.18，p=0.0052）。由于 TGF-β 的作用是通过其受体介导的，我们分析了患者基因组中研究位点的多态性变异体的复杂情况。鉴定出仅由受体基因组成的两种保护复合物：TGFBRI TT:TGFBRII CG（OR=0.10，p=0.02）和 TGFBRII CG:TGFBRIII CG（OR=0.09，p=0.01）。该研究表明 TGFBRII 多态性与原发性开角型青光眼有关，需要研究疾病发展过程中与功能相关的基因，这有助于早期诊断和预防该病。
