AFF3 中甲基化的 GCC 重复扩增与智力残疾有关

IF 31.7 1区生物学 Q1 GENETICS & HEREDITY

Nature genetics Pub Date : 2024-09-27 DOI:10.1038/s41588-024-01918-0

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。

Methylated GCC repeat expansion in AFF3 associates with intellectual disability

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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

Nature genetics 生物-遗传学

CiteScore

43.00

自引率

2.60%

发文量

241

审稿时长

3 months

期刊介绍： Nature Genetics publishes the very highest quality research in genetics. It encompasses genetic and functional genomic studies on human and plant traits and on other model organisms. Current emphasis is on the genetic basis for common and complex diseases and on the functional mechanism, architecture and evolution of gene networks, studied by experimental perturbation. Integrative genetic topics comprise, but are not limited to: -Genes in the pathology of human disease -Molecular analysis of simple and complex genetic traits -Cancer genetics -Agricultural genomics -Developmental genetics -Regulatory variation in gene expression -Strategies and technologies for extracting function from genomic data -Pharmacological genomics -Genome evolution