孟德尔随机化研究在孤独症谱系障碍中的研究进展

胡云扬; 田耕畅; 刘蒙; 汪鸿

doi:10.7499/j.issn.1008-8830.2311030

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中国当代儿科杂志 ›› 2024, Vol. 26 ›› Issue (5) : 535-540. DOI: 10.7499/j.issn.1008-8830.2311030

综述

孟德尔随机化研究在孤独症谱系障碍中的研究进展

胡云扬^1,2, 田耕畅^1,2, 刘蒙^1,2, 汪鸿²

作者信息 +

Advances in Mendelian randomization studies on autism spectrum disorder

HU Yun-Yang, TIAN Geng-Chang, LIU Meng, WANG Hong

Author information +

文章历史 +

摘要

孤独症谱系障碍（autism spectrum disorder, ASD）是一种婴幼儿期起病的广泛神经发育障碍性疾病。孟德尔随机化（Mendelian randomization, MR）是一种推导暴露与结局之间因果关系的统计学方法。该文总结有关ASD的MR研究，已有研究结果支持ASD儿童母亲患有炎症性肠病、父母受教育程度和ASD儿童屏幕暴露时间、肥胖、失眠、血清转铁蛋白、血硒、大脑功能磁共振异常信号、白介素-6、磷酸二酯酶2A、丝裂原激活蛋白激酶激活蛋白激酶3、线粒体核糖体蛋白L33、血清素与ASD之间的因果关系；但不支持ASD儿童父母患有类风湿性关节炎、系统性红斑狼疮和ASD儿童新生儿黄疸、巨细胞病毒感染、哮喘、口腔溃疡、维生素D水平与ASD之间的因果关系。该文综述ASD和MR研究相关的致病因素，旨在探索和深化对ASD病理机制的认识，为ASD的预防和诊疗提供有力的统计学支撑，也为复杂性状的病因分析提供新的方法和策略。

Abstract

Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder with onset in infancy or early childhood. Mendelian randomization (MR) is a statistical method used to infer causal relationships between exposures and outcomes. This article summarizes MR studies related to ASD. Existing research supports a causal relationship between maternal inflammatory bowel disease in children with ASD, parental education levels, screen time exposure, obesity, insomnia, serum transferrin, decreased blood selenium, abnormal signals in brain functional MRI, interleukin-6, phosphodiesterase 2A, mitogen-activated protein kinase kinase 3, mitochondrial ribosomal protein L33, serotonin, and ASD. However, it does not support a causal relationship between parental rheumatoid arthritis, systemic lupus erythematosus, neonatal jaundice in children with ASD, cytomegalovirus infection, asthma, oral ulcers, vitamin D levels, and ASD. This article reviews the etiological factors related to ASD and MR studies, aiming to explore and deepen the understanding of the pathophysiology of ASD. It provides strong statistical support for the prevention, diagnosis, and treatment of ASD, and offers new methods and strategies for the etiological analysis of complex traits.

导出引用

胡云扬, 田耕畅, 刘蒙, 汪鸿. 孟德尔随机化研究在孤独症谱系障碍中的研究进展[J]. 中国当代儿科杂志. 2024, 26(5): 535-540 https://doi.org/10.7499/j.issn.1008-8830.2311030

HU Yun-Yang, TIAN Geng-Chang, LIU Meng, WANG Hong. Advances in Mendelian randomization studies on autism spectrum disorder[J]. Chinese Journal of Contemporary Pediatrics. 2024, 26(5): 535-540 https://doi.org/10.7499/j.issn.1008-8830.2311030

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