Gao Jielin, Hou Yafei, Mao Jie, Gao Fengxiao
Department of Pediatrics, Xingtai People's Hospital, Xingtai, China.
Psychiatr Genet. 2025 Aug 1;35(4):107-113. doi: 10.1097/YPG.0000000000000390. Epub 2025 Apr 29.
The target of this research was to explore the serum miR-195-5p expression in children with autism spectrum disorder (ASD) and its association with the disease severity.
The research enrolled 30 ASD children as the study group and 30 typically developing children as the control group. MiR-195-5p and FGFR1 were detected in the serum and cells of subjects via real-time quantitative PCR (RT-qPCR). The diagnostic values of miR-195-5p and FGFR1 were assessed using receiver operating characteristic (ROC) curves. The Pearson correlation coefficient was employed to assess the relationship between miR-195-5p and childhood autism rating scale (CARS), autism behavior checklist (ABC), and Clancy autism behavior scale (CABS) scores, as well as the correlation between miR-195-5p and FGFR1 . Bioinformatics was utilized to predict the miR-195-5p-targeted gene. The interaction between miR-195-5p and FGFR1 was validated through luciferase reporter assay.
Serum miR-195-5p levels were significantly increased in ASD children ( P < 0.001). The ROC results indicated that miR-195-5p had the ability to differentiate between ASD children and control groups. The Pearson correlation coefficient confirmed that miR-195-5p was positively correlated with the CARS score ( r = 0.6699), ABC score ( r = 0.5386), and CABS score ( r = 0.7096). Luciferase reporter experiments and RT-qPCR demonstrated that FGFR1 served as a downstream target gene of miR-195-5p. Further studies revealed that FGFR1 levels were decreased in ASD children ( P < 0.001) and FGFR1 exhibited a negative correlation with miR-195-5p. The ROC results signified that FGFR1 could also distinguish ASD children from the control group.
Serum miR-195-5p was elevated in ASD children and was positively associated with the disease severity. MiR-195-5p might function as a diagnostic and treatment target for ASD.
本研究旨在探讨自闭症谱系障碍（ASD）患儿血清miR-195-5p的表达及其与疾病严重程度的关系。
本研究纳入30例ASD患儿作为研究组，30例发育正常儿童作为对照组。通过实时定量PCR（RT-qPCR）检测受试者血清和细胞中的miR-195-5p和FGFR1。采用受试者工作特征（ROC）曲线评估miR-195-5p和FGFR1的诊断价值。采用Pearson相关系数评估miR-195-5p与儿童自闭症评定量表（CARS）、自闭症行为量表（ABC）和克兰西自闭症行为量表（CABS）评分之间的关系，以及miR-195-5p与FGFR1之间的相关性。利用生物信息学预测miR-195-5p靶向基因。通过荧光素酶报告基因实验验证miR-195-�p与FGFR1之间的相互作用。
ASD患儿血清miR-195-5p水平显著升高（P < 0.001）。ROC结果表明，miR-195-5p能够区分ASD患儿和对照组。Pearson相关系数证实，miR-195-5p与CARS评分（r = 0.6699）、ABC评分（r = 0.5386）和CABS评分（r = 0.7096）呈正相关。荧光素酶报告基因实验和RT-qPCR表明，FGFR1是miR-195-5p的下游靶基因。进一步研究发现，ASD患儿FGFR1水平降低（P < 0.001），且FGFR1与miR-195-5p呈负相关。ROC结果表明，FGFR1也可区分ASD患儿和对照组。
ASD患儿血清miR-1（5-5p升高，且与疾病严重程度呈正相关。miR-195-5p可能作为ASD的诊断和治疗靶点。
