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

基于全基因组关联研究鉴定阅读障碍的致病基因

• 批准号: 226655034
• 负责人: Professor Dr. Bertram Müller-Myhsok
• 金额: --
• 依托单位: Max-Planck-Institut für Psychiatrie
• 依托单位国家: 德国
• 项目类别: Research Grants
• 财政年份: 2012
• 资助国家: 德国
• 起止时间: 2011-12-31 至 2015-12-31
• 项目状态: 已结题
• 来源: https://gepris.dfg.de/gepris/projekt/226655034?language=en
• 关键词: Identification; causal; genes; dyslexia; basis

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.

阅读障碍的患病率为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。我们的项目将通过使用大量具有广泛特征的阅读障碍儿童样本，为确定病因基因做出重要贡献。致病基因的鉴定将对解释这种常见发育障碍的病因做出决定性的贡献，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。定位基因的鉴定将通过以下方式实现：(i)在全球最大、信息量最大的阅读障碍样本之一（1362名患者，3732名对照）中进行全基因组关联研究（GWAS）；（ii）比较冰岛和美国独立数据集获得的结果。识别出的阅读障碍基因随后将进行分子遗传学分析，这将有助于表征相关位点并确定因果风险变异。

项目成果

Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort

• DOI: 10.1038/ejhg.2013.199
• 发表时间: 2014-05-01
• 期刊: EUROPEAN JOURNAL OF HUMAN GENETICS
• 影响因子: 5.2
• 作者: Becker, Jessica;Czamara, Darina;Schumacher, Johannes
• 通讯作者: Schumacher, Johannes