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来自自闭症儿童的差异DNA甲基化丰富了与自闭症谱系障碍相关基因及新候选基因的证据。

Differential DNA Methylation from Autistic Children Enriches Evidence for Genes Associated with ASD and New Candidate Genes.

作者信息

Morales-Marín Mirna Edith, Castro Martínez Xochitl Helga, Centeno Cruz Federico, Barajas-Olmos Francisco, Náfate López Omar, Gómez Cotero Amalia Guadalupe, Orozco Lorena, Nicolini Sánchez Humberto

机构信息

Laboratorio de Genómica de Enfermedades Psiquiátricas y Neurodegenerativas, Instituto Nacional de Medicina Genómica, Mexico City 14610, Mexico.

Laboratorio de Inmunogenómica y Enfermedades Metabólicas, Instituto Nacional de Medicina Genómica, Mexico City 14610, Mexico.

出版信息

Brain Sci. 2023 Oct 7;13(10):1420. doi: 10.3390/brainsci13101420.

Abstract

The etiology of Autism Spectrum Disorders (ASD) is a result of the interaction between genes and the environment. The study of epigenetic factors that affect gene expression, such as DNA methylation, has become an important area of research in ASD. In recent years, there has been an increasing body of evidence pointing to epigenetic mechanisms that influence brain development, as in the case of ASD, when gene methylation dysregulation is present. Our analysis revealed 853 differentially methylated CpG in ASD patients, affecting 509 genes across the genome. Enrichment analysis showed five related diseases, including autistic disorder and mental disorders, which are particularly significant. In this work, we identified 64 genes that were previously reported in the SFARI gene database, classified according to their impact index. Additionally, we identified new genes that have not been previously reported as candidates with differences in the methylation patterns of Mexican children with ASD.

摘要

自闭症谱系障碍(ASD)的病因是基因与环境相互作用的结果。对影响基因表达的表观遗传因素(如DNA甲基化)的研究已成为ASD研究的一个重要领域。近年来,越来越多的证据表明表观遗传机制会影响大脑发育,就像在ASD病例中,存在基因甲基化失调的情况。我们的分析揭示了ASD患者中853个差异甲基化的CpG,影响了全基因组中的509个基因。富集分析显示了五种相关疾病,包括自闭症谱系障碍和精神障碍,这些尤为显著。在这项工作中,我们鉴定出64个先前在SFARI基因数据库中报道过的基因,并根据其影响指数进行了分类。此外,我们还鉴定出了一些新基因,这些基因在患有ASD的墨西哥儿童的甲基化模式差异中,尚未被报道为候选基因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7b25/10605446/8a6e9efb896f/brainsci-13-01420-g001a.jpg

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