IL-1βrs1143634基因多态性、血清IL-1β水平与自闭症谱系障碍的关系  

Relationship between IL-1βrs1143634 gene polymorphism,serum IL-1βlevel and autism spectrum disorder

作　　者：顾宇杭 梁德武[1] 秦晓柳 常城[3] GU Yuhang;LIANG Dewu;QIN Xiaoliu;CHANG Cheng(Department of Child Health Care,Ankang Maternal and Child Health Hospital,Ankang,Shaanxi 725000,China;Department of Pediatrics,Ankang Central Hospital,Ankang,Shaanxi 725000,China;Child Health Center,Children′s Hospital Affiliated to Xi′an Jiaotong University,Xi′an,Shaanxi 710003,China)

机构地区：[1]陕西省安康市妇幼保健院儿童保健科,陕西安康725000 [2]陕西省安康市中心医院儿科,陕西安康725000 [3]西安交通大学附属儿童医院儿童保健中心,陕西西安710003

出　　处：《检验医学与临床》2024年第18期2680-2684,共5页Laboratory Medicine and Clinic

基　　金：陕西省自然科学基础研究计划资助项目(2019JM4030)。

摘　　要：目的分析血清白细胞介素-1β(IL-1β)水平和IL-1βrs1143634基因多态性与自闭症谱系障碍(ASD)的关系。方法选取2021年12月至2022年12月在陕西省安康市妇幼保健院儿童保健科诊断为疑似ASD的60例患儿作为病例组,另选取同期60例健康儿童作为对照组。所有患者填写儿童自闭症评定量表(CARS2),根据CARS2评分将患者分为非典型自闭症/待分类的广泛性发育障碍(PDD-NOS)组、轻度ASD组和中/重度ASD组。检测所有受试者血清IL-β水平及IL-1βrs1143634基因多态性。绘制受试者工作特征(ROC)曲线分析血清IL-1β对ASD的诊断价值,对PDD-NOS及轻、中/重度ASD的鉴别诊断价值,以及对轻度ASD和中/重度ASD的鉴别诊断价值。结果病例组血清IL-1β水平高于对照组(P<0.05)。病例组3~6岁及>6岁患儿血清IL-1β水平高于对照组同年龄段儿童,差异均有统计学意义(P<0.05)。PDD-NOS组有14例患儿,轻度ASD组有24例患儿,中/重度ASD组有22例患儿。中/重度ASD组血清IL-1β水平高于PDD-NOS组和轻度ASD组,且轻度ASD组血清IL-1β水平高于PDD-NOS组,差异均有统计学意义(P<0.05)。ROC曲线分析结果显示,血清IL-1β诊断ASD的曲线下面积(AUC)为0.976,鉴别诊断PDD-NOS和轻、中/重度ASD的AUC为0.818,鉴别诊断轻度ASD和中/重度ASD的AUC为0.674。病例组C等位基因频率低于对照组,T等位基因频率高于对照组,差异有统计学意义(P<0.05)。PDD-NOS组、轻度ASD组、中/重度ASD组各基因型和等位基因频率比较,差异有统计学意义(P<0.05)。病例组TT基因型患儿血清IL-1β水平高于CT基因型和CC基因型患儿,差异均有统计学意义(P<0.05)。结论血清IL-1β水平和IL-1βrs1143634基因多态性是诊断ASD的潜在生物标志物,而且可用于鉴别诊断疾病严重程度,但是需要更大样本的研究以证实该结论的可靠性。Objective To analyze the relationship between serum interleukin-1β(IL-1β)level and IL-1βrs1143634 gene polymorphism and autism spectrum disorder(ASD).Methods A total of 60 children diagnosed with suspected ASD in the Department of Child Health Care of Ankang Maternal and Child Health Hospital from December 2021 to December 2022 were selected as the case group,and another 60 healthy children were selected as the control group during the same period.All patients filled in the Childhood Autism Rating Scale(CARS2)and were divided into atypical autism/generalized developmental disorder(PDD-NOS)group,mild ASD group,and moderate/severe ASD group according to CARS2 scores.Serum IL-βlevel and IL-1βrs1143634 gene polymorphism were detected in all subjects.Receiver operating characteristic(ROC)curve was drawn to analyze the diagnostic value of serum IL-1βin ASD,the differential diagnostic value of PDD-NOS and mild,moderate/severe ASD,and the differential diagnostic value of mild and moderate/severe ASD.Results The serum IL-1βlevel in the case group was higher than that in the control group(P<0.05).Serum IL-1βlevels in children aged 3-6 years and>6 years in case group were higher than those in control group,and the differences were statistically significant(P<0.05).There were 14 children in the PDD-NOS group,24 in the mild ASD group,and 22 in the moderate/severe ASD group.The serum IL-1βlevel in moderate/severe ASD group was higher than that in PDD-NOS group and mild ASD group,and the serum IL-1βlevel in mild ASD group was higher than that in PDD-NOS group,with statistical significance(P<0.05).ROC curve analysis results showed that the area under the curve(AUC)of serum IL-1βfor the diagnosis of ASD was 0.976,the AUC for the differential diagnosis of PDD-NOS and mild,moderate/severe ASD was 0.818,and the AUC for the differential diagnosis of mild ASD and moderate/severe ASD was 0.674.The C allele frequency in the case group was lower than that in the control group,and the T allele frequency in the case group was hi

关 键 词：自闭症谱系障碍 白细胞介素-1Β 单核苷酸多态性 血细胞因子 严重程度 

分 类 号：R749.94[医药卫生—神经病学与精神病学] R725.7[医药卫生—临床医学]