The genetic bases of reading and related processes in Russian

俄语阅读及相关过程的遗传基础

• 批准号: 8205519
• 负责人: ELENA L GRIGORENKO
• 金额: $ 20.2万
• 依托单位: YALE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-08-10 至 2013-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8205519
• 关键词: 10q; 19q; Accounting; Behavior; Behavioral; Candidate Disease Gene; Characteristics; Child; Code; Complex; Comprehension; Country; DNA; Data; Detection; Development; Disabled Persons; Education; Etiology; Evaluation; Funding; Genes; Genetic; Genetic Research; Genetic Variation; Genome; Genotype; Heritability; Individual; Individual Differences; Investigation; Knowledge; Language; Life; Link; Literature; Mental Health; Methods; Modeling; Molecular Genetics; Names; Nature; Orthography; Outcome; Participant; Pattern; Pattern Recognition; Performance; Phenotype; Prevalence; Prevention; Process; Qualifying; Reader; Reading; Reading Disabilities; Recruitment Activity; Research; SNP genotyping; Sampling; Semantics; Short Tandem Repeat Polymorphism; Siblings; Single Nucleotide Polymorphism; Structure; System; Technology; Text; Translating; United States National Institutes of Health; Work; Writing; base; career; cost; design; disability; field study; genetic analysis; genome wide association study; high risk; interest; novel; phonology; psychologic; remediation; skills; sound; spelling; success; theories; usability

DESCRIPTION (provided by applicant): This project is aimed at enhancing our knowledge and understanding of the genetic bases of reading and related processes. It has long been known that reading, whether qualified as ability or disabilities, along with reading-related processes, are heritable, but it has been rather difficult for the field to converge on specific gene candidates for this (dis)ability. The field has identified a number of reasons for such a lack of convergence among the molecular-genetic findings. These reasons include lack of power, inconsistencies in phenotypic evaluations, and, perhaps, the focus on English, which is a particular outlier among world languages. In this application, we attempt to overcome some of the limitations of previous studies by working with large samples of Russian-speaking siblings (n = 400 pairs) and discrepant singletons (n = 1,500), whose performance on reading and reading-related assessments is carefully sampled through an assessment battery embedded in a particular theoretical framework. We will capitalize on preliminary findings obtained through a whole-genome short-tandem-repeat-polymorphism (STRP) linkage study (WGLS) of Russian sib pairs and propose to complete a single-nucleotide-polymorphism (SNP)-based investigation of the regions of interest identified in the WGLS using ~4,500 targeted SNPs genotyped on the DNA from these 2300 individuals (sib pairs and singletons) and multivariate reading-related phenotypes. The proposed combination of samples, skills, and technologies provides a rather appealing opportunity, both scientifically and methodologically. This R21 will generate pilot data to (1) establish the feasibility of constructing a large epidemiologically-based sample of Russian children with specific reading disability (SRD); (2) investigate the usability of combining STRP and SNP data obtained on the same sample; and (3) estimate the sizes of genetic effects, if confirmed, and design subsequent studies utilizing more definitive and funding-demanding technologies (e.g., sequencing). PUBLIC HEALTH RELEVANCE: Difficulties in reading acquisition and performance are common and observed at the prevalence of 5-7% in all studied countries, regardless of the characteristics of the writing system within a given country. Years of research into the manifestation and etiology of these difficulties have established that it is a life-long condition unfolding at high cost to an individual, associated with lost years of education, diminished career success, and often negative mental health outcomes. Understanding the etiology of reading difficulties is crucial for developing adequate methods for its prevention and remediation.

描述（由申请人提供）：该项目旨在增强我们对阅读和相关过程遗传基础的了解和理解。早就知道，阅读，无论是能力还是残疾，以及与阅读相关的过程都是可遗传的，但是对于该领域而言，该领域很难以这种（DIS）的能力来汇聚特定的基因候选者。该领域已经确定了分子遗传学发现中这种缺乏融合的许多原因。这些原因包括缺乏力量，表型评估中的不一致，以及对英语的关注，这在世界语言中是一个特殊的异常值。在此应用中，我们试图通过使用大量讲俄语的兄弟姐妹（n = 400对）和Vistepant Singletons（n = 1,500）的样本来克服先前研究的某些局限性，通过在特定的理论框架中嵌入了评估电池，对其在阅读和阅读相关的评估方面的性能进行了仔细抽样。我们将利用俄罗斯同胞对的全基因组短tandem重复 - 重复 - 重复形态（STRP）链接研究（WGLS），并建议通过使用这些〜4,5,500 〜4,500 〜4,500的wgls vente的区域确定的单个核苷酸 - SNP（SNP）对单个核苷酸（SNP）进行单一核苷酸（SNP）的研究。 （SIB对和单例）和多元阅读相关表型。拟议的样本，技能和技术的组合提供了一个相当有吸引力的机会，无论是科学和方法论上的。该R21将生成（1）建立构建大型基于流行病学的俄罗斯儿童（SRD）样本的可行性（SRD）； （2）研究将在同一样品上获得的STRP和SNP数据组合的可用性； （3）估计遗传效应的大小，如果得到确认，并设计了随后的研究，利用更确定和资金的要求技术（例如，测序）。 公共卫生相关性：在所有研究的国家中，不论给定国家内写作系统的特征如何，阅读习得和绩效的困难在5-7％的盛行中都很普遍。多年来，这些困难的表现和病因的研究已经确定，这是一个终身状况，以高昂的成本向个人展开，与失去的教育失去，职业成功减少以及经常负面的心理健康成果有关。了解阅读困难的病因对于开发足够的预防和补救方法至关重要。