[1]马慧敏,周晓静,卢东娥,等.支气管哮喘患儿RNase3基因多态性及其表达水平与气道炎症程度及糖皮质激素疗效的关系研究[J].现代检验医学杂志,2025,40(02):164-168.[doi:10.3969/j.issn.1671-7414.2025.02.031]
 MA Huimin,ZHOU Xiaojing,LU Donge,et al.Relationship between RNase3 Gene Polymorphism and Its Expression Level with Airway Inflammation and Glucocorticoid Efficacy in Children with Bronchial Asthma[J].Journal of Modern Laboratory Medicine,2025,40(02):164-168.[doi:10.3969/j.issn.1671-7414.2025.02.031]
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支气管哮喘患儿RNase3基因多态性及其表达水平与气道炎症程度及糖皮质激素疗效的关系研究()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第40卷
期数:
2025年02期
页码:
164-168
栏目:
论著
出版日期:
2025-03-15

文章信息/Info

Title:
Relationship between RNase3 Gene Polymorphism and Its Expression Level with Airway Inflammation and Glucocorticoid Efficacy in Children with Bronchial Asthma
文章编号:
1671-7414(2025)02-164-05
作者:
马慧敏周晓静卢东娥闫玉姣
(邯郸市妇幼保健院小儿神经内科,河北邯郸 056000)
Author(s):
MA Huimin ZHOU Xiaojing LU Donge YAN Yujiao
(Department of Pediatric Neurology, Handan Maternal and Child Health Hospital, Hebei Handan, 056000, China)
关键词:
支气管哮喘核糖核酸酶A3基因多态性糖皮质激素气道炎症
分类号:
R562.25;Q786
DOI:
10.3969/j.issn.1671-7414.2025.02.031
文献标志码:
A
摘要:
目的 探究支气管哮喘(BA)患儿核糖核酸酶A3(RNase3)基因多态性及其表达水平与气道炎症程度及糖皮质激素疗效的关系。方法 选取2022 年6 月~ 2024 年6 月邯郸市妇幼保健院收治的110 例BA 患儿作为研究对象,根据入院时病情严重程度分为轻度组(n=64)和中重度组(n=46),同期在该院进行健康体检的儿童为对照组(n=82)。采用分子量阵列基因分析(MassArray)系统检测RNase3 基因rs2073342 位点基因分型;荧光定量聚合酶链式反应(RTPCR)检测RNase3 mRNA 表达水平。收集患儿临床资料,对比各组基因分型及等位基因频率差异;非条件Logistic 回归分析RNASE3 基因多态性与BA 易感性的关系。结果 与轻度组比较,中重度组白细胞介素-6(IL-6)(21.49±3.01ng/L vs13.21±2.84ng/L),降钙素原(PCT)(19.16±4.02μg/L vs 9.94±3.15μg/L)明显升高(t=-14.568,-12.952),用力肺活量(FVC)、呼吸流量峰值(PEF)、第1 秒用力呼气容积(FEV1)明显降低(t=2.534,3.304,2.011),差异具有统计学意义(均P<0.05)。对照组和观察组RNase3 基因rs2073342 位点基因型分布均符合Hardy-Weinberg 平衡定律(χ2=0.402,0.689,均P>0.05),具有群体代表性。与对照组、轻度组比较,中重度组CC,CA 基因型频率高(χ2=35.008,23.079),与对照组比较,轻度组CC,CA 基因型频率高(χ2=7.725),差异具有统计学意义(均P<0.05)。与轻度组相比,中重度组rs2073342 位点携带C 等位基因BA 患儿外周血单个核细胞RNase3 mRNA 表达水平升高,差异具有统计学意义(t=-19.622,P<0.05);同组内rs2073342 位点携带C 基因BA 患儿外周血单个核细胞RNase3 mRNA 表达水平高于未携带C基因患儿(t=4.169,22.608,均P<0.05)。非条件Logistic 回归分析显示,RNase3 基因携带等位基因C 或显性模型(CCvs CA+AA)是BA 患儿重症的危险因素(P<0.05);基因型AA 携带者经糖皮质激素治疗后总有效率最高,基因型AA 携带者治疗效果显著优于基因型AC 与CC,差异具有统计学意义(χ2=11.858,P<0.05)。结论 BA 患儿外周血RNase3 mRNA表达随病情加重明显上调,rs2073342 位点携带等位基因C 或显性模型(CC vs CA+AA)是BA 患儿重症的危险因素,基因型AA 携带者治疗效果更优。
Abstract:
Objective To explore the relationship between ribonuclease A3 (RNase3) gene polymorphism and its expression level with airway inflammation and glucocorticoid efficacy in children with bronchial asthma(BA). Methods A total of 110 children with bronchial asthma admitted to Handan Maternal and Child Health Hospital June 2022 to June 2024 were selected as the study objects. According to the severity of the condition at admission, they were divided into mild group (n=64), moderate to severe group (n=46), and children who underwent physical examination in the hospital during the same period were selected as the control group (n=82).Molecular weight array gene analysis (MassArray) was used to detect the genotyping of RNase3 gene rs2073342 locus. Quantitative real-time PCR (RT-PCR) was used to detect the expression level of RNase3 mRNA.The clinical data of the children were collected, and the differences of genotype and allele frequency were compared.The relationship between RNase3 gene polymorphism and BA susceptibility was analyzed by unconditioned Logistic regression. Results Compared with the mild group, IL-6(21.49±3.01ng/L vs 13.21±2.84ng/L) and PCT(19.16±4.02μg/L vs 9.94±3.15μg/L) in the moderate and severe group were significantly increased(t=-14.568, -12.952), while FVC, PEF and FEV1 were significantly decreased(t=2.534, 3.304, 2.011), and the differences were statistically significant (all P<0.05).The genotype distribution of RNase3 gene rs2073342 in both control and study groups was consistent with Hardy-Weinberg balance law (χ2=0.402, 0.689, all P>0.05), indicating population representation.Compared with the control group and the mild group, the CC,CA genotype frequencies were higher in moderate to severe group (χ2=35.008, 23.079), Compared with the control group, the frequency of CC and CA genotypes in mild group was higher(χ2=7.325), the differences were statistically significant (all P<0.05). Compared with mild group, RNase3 mRNA expression in peripheral blood mononuclear cells of children with C gene BA at rs2073342 in moderate to severe group was higher, and the difference was statistically significant (t=-19.622, P<0.05). In the same group, the mRNA expression level of RNase3 in peripheral blood mononuclear cells of the children with C gene BA at rs2073342 was higher than that of the children without C gene (t=4.169, 22.608, all P<0.05).Unconditional Logistic regression results showed that RNase3 gene carrying allele C or dominant model (CC vs CA+AA) was a risk factor for severe disease in BA children (P<0.05).The total effective rate of genotype AA carriers was the highest after glucocorticoid therapy, and the therapeutic effect of genotype AA carriers was significantly better than that of genotype AC and CC, and the difference was statistically significant (χ2=11.858,P<0.05). Conclusion The expression of RNase3 mRNA in peripheral blood of BA children increased significantly with the exacerbation of the disease. Carrier of allele C or dominant model (CC vs CA+AA) is a risk factor for severe disease in BA children. Genotype AA carriers had better therapeutic effect.

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备注/Memo

备注/Memo:
基金项目:河北省卫生健康委科研项目,项目编号:20230631。
作者简介:马慧敏(1984-),女,大学本科,主治医师,研究方向:神经系统、呼吸系统及消化系统疾病,E-mail:mhm741738796@qq.com。
更新日期/Last Update: 2025-03-15