Nature Genetics—阅读障碍遗传学研究重磅突破：科学家发现42个与阅读障碍相关的遗传风险位点

中文摘要

阅读和写作是至关重要的生活技能，但大约十分之一的儿童会受到阅读障碍的影响，这种障碍会持续到成年。阅读障碍的家系研究表明，其遗传率高达70%，但几乎没有令人信服的遗传标记被发现。在这里，研究人员对51800名自我报告阅读障碍诊断的成年人和1087070名对照进行了全基因组关联研究分析，确定了42个独立的全基因组基因座：其中，15个基因与认知能力/教育程度相关，27个基因为新发现的且可能更特异于阅读障碍。他们在中国和欧洲血统的独立队列中验证了其中的23个基因座（13个新基因座）。他们发现阅读障碍的遗传病因在性别之间是相似的，还发现了与许多表型特征相关的遗传协方差，包括双灵巧性，但不包括语言相关环路的神经解剖学测量。阅读障碍的多基因评分解释了阅读特征中6%的变异，并可能有助于早期识别和纠正阅读障碍。

英文摘要

Reading and writing are crucial life skills but roughly one in ten children are affected by dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70%, yet few convincing genetic markers have been found. Here we performed a genome-wide association study of 51,800 adults self-reporting a dyslexia diagnosis and 1,087,070 controls and identified 42 independent genome-wide significant loci: 15 in genes linked to cognitive ability/educational attainment, and 27 new and potentially more specific to dyslexia. We validated 23 loci (13 new) in independent cohorts of Chinese and European ancestry. Genetic etiology of dyslexia was similar between sexes, and genetic covariance with many traits was found, including ambidexterity, but not neuroanatomical measures of language-related circuitry. Dyslexia polygenic scores explained up to 6% of variance in reading traits, and might in future contribute to earlier identification and remediation of dyslexia.

参考文献：Discovery of 42 genome-wide significant loci associated with dyslexia.Nat Genet. 2022 Oct 20.

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