Brovkina A F, Sychev D A, Toropova O S
Russian Medical Academy of Continuous Professional Education, Moscow, Russia.
Vestn Oftalmol. 2020;136(6. Vyp. 2):125-132. doi: 10.17116/oftalma2020136062125.
For more than 60 years, glucocorticoid therapy has been practically the only method for treating patients with endocrine ophthalmopathy - non-specific autoimmune inflammation of the soft tissues of the orbit. Steroid-resistant forms of this disease are known to exist. The reasons for the formation of glucocorticoid resistance are not fully understood yet.
To study the possibilities of pharmacogenetic testing for the polymorphism of the glucocorticoid receptor gene NR3C1 and cytochrome P450 in predicting the effectiveness of glucocorticoid therapy in patients with edematous exophthalmos - one of the clinical forms of endocrine ophthalmopathy.
The results of glucocorticoid therapy were analyzed in 75 patients with different clinical forms of endocrine ophthalmopathy aged 27 to 84 years. All patients underwent standard ophthalmological examination, external examination of the eye with assessment of the state of periorbital tissues, determination of the shape and size of the palpebral fissure (vertical size), position of the eye in orbit, Hertel exophthalmometry, ultrasound scanning and computed tomography of the orbits. Genetic analysis of the polymorphism of the studied genes was carried out using real-time polymerase chain reaction (real-time PCR).
The study did not find patterns in the distribution of homo- and heterozygous genotypes of A6986G polymorphic markers of the gene, 6 C>T intron of the gene and rs6190 of the gene in patients with endocrine ophthalmopathy and their effect on the glucocorticoid response (>0.05).
Results of pharmacogenetic testing of the gene for the glucocorticoid receptor NR3C1 and cytochrome P450 do not provide a reliable confirmation of the influence of the polymorphism of the studied genes on the effectiveness of glucocorticoid therapy in patients with endocrine ophthalmopathy.
60多年来，糖皮质激素疗法几乎一直是治疗内分泌性眼病（眼眶软组织的非特异性自身免疫性炎症）患者的唯一方法。已知存在这种疾病的类固醇抵抗形式。糖皮质激素抵抗形成的原因尚未完全明确。
研究糖皮质激素受体基因NR3C1和细胞色素P450多态性的药物遗传学检测在预测糖皮质激素疗法对水肿性眼球突出（内分泌性眼病的临床形式之一）患者有效性方面的可能性。
分析了75例年龄在27至84岁、患有不同临床形式内分泌性眼病患者的糖皮质激素治疗结果。所有患者均接受了标准眼科检查、眼部外部检查并评估眶周组织状态、测定睑裂的形状和大小（垂直尺寸）、眼球在眼眶中的位置、Hertel眼球突出度测量、眼眶超声扫描和计算机断层扫描。使用实时聚合酶链反应（实时PCR）对所研究基因的多态性进行基因分析。
该研究未在内分泌性眼病患者中发现基因的A6986G多态性标记、基因的6号内含子C>T和基因的rs6190的纯合和杂合基因型分布模式及其对糖皮质激素反应的影响（>0.05）。
糖皮质激素受体NR3C1基因和细胞色素P450的药物遗传学检测结果未能可靠证实所研究基因的多态性对内分泌性眼病患者糖皮质激素治疗有效性的影响。
