The genetic bases of reading and related processes in Russian

俄语阅读及相关过程的遗传基础

基本信息

批准号：
8317302
负责人：
ELENA L GRIGORENKO
金额：
$ 23.07万
依托单位：
YALE UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2011
资助国家：
美国
起止时间：
2011-08-10 至 2014-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8317302
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

项目摘要

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).

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的遗传基础的知识和理解。众所周知，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，但该领域很难集中在这种（残疾）能力的特定候选基因上。该领域已经确定了分子遗传学发现之间缺乏趋同性的许多原因。这些原因包括缺乏能力、表型评估不一致，或许还包括对英语的关注，英语是世界语言中的一个特殊异常值。在此应用中，我们尝试通过使用大量讲俄语的兄弟姐妹（n = 400 对）和差异单身人士（n = 1,500）样本来克服先前研究的一些局限性，这些样本在阅读和阅读相关评估方面的表现为通过嵌入特定理论框架的评估组仔细抽样。我们将利用通过俄罗斯同胞对的全基因组短串联重复多态性（STRP）连锁研究（WGLS）获得的初步结果，并建议完成基于单核苷酸多态性（SNP）的区域调查使用对这 2300 名个体（同胞对和单身）的 DNA 进行基因分型的约 4,500 个目标 SNP，在 WGLS 中确定了感兴趣的内容，并与多变量阅读相关表型。所提议的样本、技能和技术的组合在科学和方法上都提供了相当有吸引力的机会。该 R21 将生成试点数据，以 (1) 确定构建具有特定阅读障碍 (SRD) 的俄罗斯儿童大型流行病学样本的可行性； (2) 研究结合在同一样本上获得的 STRP 和 SNP 数据的可用性； (3) 估计遗传效应的大小（如果得到证实），并利用更明确且需要资金的技术（例如测序）设计后续研究。