AFF3 中甲基化的 GCC 重复扩增与智力残疾有关

IF 3.7 3区医学 Q2 CHEMISTRY, MEDICINAL Chemical Research in Toxicology Pub Date : 2024-09-27 DOI:10.1038/s41588-024-01918-0

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引用次数: 0

摘要

我们发现了与导致脆性X综合征的FMR1 CGG重复相似的甲基化串联重复扩增，并调查了它们与英国生物库中特征的关联。AFF3 扩增携带者完成中等教育的概率降低了 2.4 倍，并且富集在智障人群中。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Methylated GCC repeat expansion in AFF3 associates with intellectual disability

We identified methylated tandem repeat expansions that resemble the FMR1 CGG repeat that causes fragile X syndrome and investigated their association with traits in the UK Biobank. AFF3 expansion carriers had a 2.4-fold reduced probability of completing secondary education and were enriched in a cohort of individuals with intellectual disability.

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来源期刊

Chemical Research in Toxicology 医学-毒理学

CiteScore

7.90

自引率

7.30%

发文量

215

审稿时长

3.5 months

期刊介绍： Chemical Research in Toxicology publishes Articles, Rapid Reports, Chemical Profiles, Reviews, Perspectives, Letters to the Editor, and ToxWatch on a wide range of topics in Toxicology that inform a chemical and molecular understanding and capacity to predict biological outcomes on the basis of structures and processes. The overarching goal of activities reported in the Journal are to provide knowledge and innovative approaches needed to promote intelligent solutions for human safety and ecosystem preservation. The journal emphasizes insight concerning mechanisms of toxicity over phenomenological observations. It upholds rigorous chemical, physical and mathematical standards for characterization and application of modern techniques.