Expression of miR-195-5p in the serum of children with autism spectrum disorder and its correlation with the severity of the disease.

IF 1.5 4区 医学 Q4 GENETICS & HEREDITY
Psychiatric Genetics Pub Date : 2025-08-01 Epub Date: 2025-04-29 DOI:10.1097/YPG.0000000000000390
Jielin Gao, Yafei Hou, Jie Mao, Fengxiao Gao
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引用次数: 0

Abstract

Objective: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

miR-195-5p在自闭症谱系障碍患儿血清中的表达及其与病情严重程度的相关性
目的: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。方法:选取30例ASD儿童作为研究组,30例正常发育儿童作为对照组。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)、自闭症行为检查表(ABC)、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试验验证了miR-195-5p与FGFR1之间的相互作用。结果:ASD患儿血清miR-195-5p水平显著升高(P < 0.001)。ROC结果显示miR-195-5p具有区分ASD儿童和对照组的能力。Pearson相关系数证实miR-195-5p与CARS评分(r = 0.6699)、ABC评分(r = 0.5386)、CABS评分(r = 0.7096)呈正相关。荧光素酶报告基因实验和RT-qPCR证实FGFR1是miR-195-5p的下游靶基因。进一步的研究表明,ASD儿童中FGFR1水平降低(P < 0.001), FGFR1与miR-195-5p呈负相关。ROC结果表明FGFR1也可以将ASD儿童与对照组区分开来。结论:ASD患儿血清miR-195-5p水平升高,且与病情严重程度呈正相关。MiR-195-5p可能作为ASD的诊断和治疗靶点。
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来源期刊
Psychiatric Genetics
Psychiatric Genetics 医学-神经科学
CiteScore
2.30
自引率
0.00%
发文量
39
审稿时长
3 months
期刊介绍: ​​​​​​The journal aims to publish papers which bring together clinical observations, psychological and behavioural abnormalities and genetic data. All papers are fully refereed. Psychiatric Genetics is also a forum for reporting new approaches to genetic research in psychiatry and neurology utilizing novel techniques or methodologies. Psychiatric Genetics publishes original Research Reports dealing with inherited factors involved in psychiatric and neurological disorders. This encompasses gene localization and chromosome markers, changes in neuronal gene expression related to psychiatric disease, linkage genetics analyses, family, twin and adoption studies, and genetically based animal models of neuropsychiatric disease. The journal covers areas such as molecular neurobiology and molecular genetics relevant to mental illness. Reviews of the literature and Commentaries in areas of current interest will be considered for publication. Reviews and Commentaries in areas outside psychiatric genetics, but of interest and importance to Psychiatric Genetics, will also be considered. Psychiatric Genetics also publishes Book Reviews, Brief Reports and Conference Reports.
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