Abstract：
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.
摘要：
转化生长因子TGFB及其受体基因的多态性（TGFBRI，TGFBRII,和TGFBRIIII）在原发性开角型青光眼患者中进行分析。患者中TGFBRIICC基因型的频率相对于对照组增加(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基因座的多态变异。鉴定出两种仅由受体基因组成的保护性复合物：TGFBRITT：TGFBRIICG（OR=0.10，p=0.02）和TGFBRIICG：TGFBRIIICG（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相关，并且需要研究该疾病发展过程中的功能相关基因，这应该有助于其早期诊断和预防。
