Identification of causal genes for dyslexia on the basis of genome-wide association studies

诵读困难的患病率为5%，是儿童和青少年最常见的发育障碍之一。遗传因素的比例估计高达70%，这取决于所讨论的特定表型维度。我们的项目将作出重要贡献的因果基因的识别，通过使用大量的广泛特征的儿童阅读障碍的样本。致病基因的鉴定将决定性地有助于解释这种常见发育障碍的病因，并将在跨学科合作的背景下进行基因型-表型和基因型-环境分析。（i）在全世界最大和最具信息量的诵读困难样本中进行的全基因组关联研究（1，362例患者，3，732例对照）;（ii）比较来自冰岛和美国的独立数据集的结果。然后将对识别出的阅读障碍基因进行分子遗传分析，这将有助于描述相关基因座的特征并识别致病风险变体。

Dyslexia has a prevalence of 5%, and is among the most common of all developmental disorders in childhood and adolescence. The proportion of inherited factors is estimated to be up to 70%, depending on the particular phenotype dimension in question. Our project will make an important contribution to the identification of the causal genes through the use of a large sample of extensively characterized children with dyslexia. The identification of causal genes will contribute decisively to explaining the etiology of this common developmental disorder and will enable the performance of genotype-phenotype and genotype-environment analyses within the context of interdisciplinary collaborations.The identification of disposition genes will be achieved through: (i) a genome-wide association study (GWAS) in one of the largest and most informative dyslexia samples worldwide (1,362 patients, 3,732 controls); and (ii) comparison of the obtained findings in independent datasets from Iceland and the USA. The identified dyslexia genes will then be subjected to molecular genetic analyses, which will serve to characterize the associated loci and to identify the causal risk variants.