英国爱丁堡大学心理学系Michelle Luciano团队近期取得重要工作进展，他们研究发现42个与阅读障碍相关的全基因组显著性位点。相关论文2022年10月20日在线发表于《自然—遗传学》杂志上。

研究人员对51800名自我报告患有阅读障碍的成年人和1087070名对照者进行了一项全基因组关联研究，并确定了42个独立的全基因组显著位点：15个与认知能力/教育成就相关的基因，27个新的且可能更特异的阅读障碍相关基因。

研究人员在中国和欧洲血统样本中验证了23个位点（13个新的）。阅读障碍的遗传病因在性别之间是相似的，并且发现许多性状的遗传共线性，包括灵巧性，但不包括语言相关回路的神经解剖学测量。阅读障碍的多基因分数解释了高达6%的阅读特征变异，并在未来可能有助于早期识别和补救阅读障碍。

据介绍，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受阅读障碍的影响，并可能持续到成年。阅读障碍的家庭研究表明，遗传性高达70%，但几乎没有发现令人信服的遗传标记。

附：英文原文

Title: Discovery of 42 genome-wide significant loci associated with dyslexia

Author: Doust, Catherine, Fontanillas, Pierre, Eising, Else, Gordon, Scott D., Wang, Zhengjun, Alagz, Gkberk, Molz, Barbara, Pourcain, Beate St, Francks, Clyde, Marioni, Riccardo E., Zhao, Jingjing, Paracchini, Silvia, Talcott, Joel B., Monaco, Anthony P., Stein, John F., Gruen, Jeffrey R., Olson, Richard K., Willcutt, Erik G., DeFries, John C., Pennington, Bruce F., Smith, Shelley D., Wright, Margaret J., Martin, Nicholas G., Auton, Adam, Bates, Timothy C., Fisher, Simon E., Luciano, Michelle

Issue&Volume: 2022-10-20

Abstract: 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.

DOI: 10.1038/s41588-022-01192-y

Source: https://www.nature.com/articles/s41588-022-01192-y