摘要
目的探讨ER22/23EK基因多态性与儿童视神经炎甲泼尼龙玻璃酸钠应答的相关性。方法选择2017年6月至2020年10月西北大学附属第一医院收治的246例视神经炎患儿,采用SNaPshot单核苷酸多态性(single nucleotide polymorphism, SNP)基因分型技术对糖皮质激素受体ER22/23EK基因进行分型,根据检测结果分为GG基因型(GG组)、AG基因型(AG组)和AA基因型(AA组)3组。3组均接受甲泼尼龙玻璃酸钠治疗,连续6周。对比3组临床疗效、治疗前后眼底检查和患眼视力变化情况,记录和比较3组治疗期间不良反应发生情况;采用logistic回归分析ER22/23EK基因多态性与甲泼尼龙玻璃酸钠应答的相关性。结果 GG组的治疗总有效率明显高于AG组(95.7%比88.8%)和AA组(78.9%),差异有统计学意义(P<0.05)。治疗后,3组的视力评分、视野评分和视觉诱发电位(visual evoked potential, VEP)评分均明显提高,其中GG组3项评分[(2.68±0.23)分、(2.45±0.27)分、(2.58±0.25)分]均明显高于AG组[(2.55±0.22)分、(2.36±0.23)分、(2.45±0.21)分]和AA组[(2.48±0.24)分,(2.28±0.25)分、(2.36±0.29)分],差异均有统计学意义(P<0.05)。治疗前,3组视盘炎主要表现为充血水肿和苍白萎缩,治疗后视盘正常占比明显提高,其中GG组改善情况明显优于AG组和AA组,差异有统计学意义(P<0.05)。Logistic回归分析显示,糖皮质激素受体基因ER22/23EK基因型的AA型(OR=0.516,95%CI:0.262~0.846,P<0.001)、AG型(OR=0.422,95%CI:0.212~0.723,P<0.001)治疗应答有效率明显降低。3组患儿治疗期间轻度体质量增加、胃肠道反应及轻度眼压升高不良反应发生率比较,差异无统计学意义(P>0.05)。结论糖皮质激素受体ER22/23EK基因多态性与儿童视神经炎甲泼尼龙玻璃酸钠应答存在相关性,其中A等位基因可能削弱糖皮质激素敏感性,降低治疗效果。
Objective To investigate the correlation between ER22/23 EK gene polymorphism and the response to methylprednisolone sodium hyaluronate in children with optic neuritis. Methods A total of 246 cases of children with optic neuritis in the First Affiliated Hospital of Northwest University from June 2017 to October 2020 were selected as the research objects. The glucocorticoid receptor ER22/23 EK gene was genotyped by snapshot SNP genotyping technology. According to the results of ER22/23 EK gene polymorphism detection, they were divided into GG(GG group), AG(AG group) and AA(AA group) genotypes. The three groups were treated with methylprednisolone sodium hyaluronate for six weeks. The clinical efficacy, fundus examination and visual acuity of the three groups were compared, and the occurrence of adverse reactions during the treatment was recorded and compared. The correlation between ER22/23 EK gene polymorphism and methylprednisolone sodium hyaluronate response was analyzed by logistic regression analysis. Results The total effective rate of treatment in the GG group was significantly higher than that of the AG group(95.7% vs. 88.8%) and the AA group(78.9%), and the difference was statistically significant(P<0.05). After treatment, the visual acuity scores, visual field scores,and VEP scores of the three groups increased significantly, and the three check scores of the GG group [(2.68±0.23) points,(2.45±0.27) points,(2.58±0.25) points] were significantly higher than those of the AG group [(2.55±0.22) points,(2.36±0.23) points,(2.45±0.21) points] and AA group [(2.48±0.24) points,(2.28±0.25) points,(2.36±0.29) points], the difference was statistically significant(P<0.05). Before treatment, the optic nipple of the three groups mainly showed inflammation such as congestion, edema and pale atrophy. After treatment, the proportion of normal optic nipple increased significantly, and the improvement of GG patients was significantly better than those of the AG and AA group(P<0.05). Logistic regression analysis sho
作者
郑博
杜蕊
Zheng Bo;Du Rui(Department of Ophthalmology,The First Affiliated Hospital of Northwest University,Xi'an 710003,China)
出处
《北京医学》
CAS
2021年第10期965-969,共5页
Beijing Medical Journal
