EFFECTS OF A LOCUS ON SPEECH-SOUND DISORDER AND READING

基因座对言语障碍和阅读的影响

• 批准号: 7956482
• 负责人: SUDHA K IYENGAR
• 金额: $ 0.97万
• 依托单位: CASE WESTERN RESERVE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-08-01 至 2010-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7956482
• 关键词: Behavior Disorders; Candidate Disease Gene; Child; Childhood; Chromosomes, Human, Pair 1; Chromosomes, Human, Pair 3; Cognitive; Complex; Computer Retrieval of Information on Scientific Projects Database; Data; Development; Disease; Dyslexia; Equation; Family; Funding; Future; Genetic; Genotype; Grant; Human Genetics; Institution; Joints; Language Development; Language Disorders; Linguistics; Link; Measures; Memory; Modeling; Process; Production; Reading; Reading Disabilities; Reading Disorder; Research; Research Personnel; Resources; Risk; School-Age Population; Schools; Source; Speech; Speech Sound; United States National Institutes of Health; Vocabulary; endophenotype; genetic analysis; genetic linkage analysis; genetic pedigree; genome wide association study; phonology; spelling; trait

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Speech-sound disorder (SSD) is a complex behavioral disorder characterized by speech-sound production errors associated with deficits in articulation, phonological processes, and cognitive linguistic processes. SSD is prevalent in childhood and is comorbid with disorders of language, spelling, and reading disability, or dyslexia. Previous research suggests that developmental problems in domains associated with speech and language acquisition place a child at risk for dyslexia. Recent genetic studies have identified several candidate regions for dyslexia, including one on chromosome 3 segregating in a large Finnish pedigree. To explore common genetic influences on SSD and reading, we have conducted linkage analysis of regions previously linked to dyslexia. We have found that quantitative traits related to phonological memory, vocabulary, speech-sound production, and phonological representation are linked to regions on chromosomes 1, 3, 6, and 15. These results suggest that domains common to SSD and dyslexia are pleiotropically influenced influenced by loci in those chromosomal regions. Recently, we have completed genotyping of an Affymetrix 250k SNP chip in a subset of these families ascertained through a child with SSD. Our future plans include analyzing these genome-wide association data as well as new candidate gene SNP data. In addition, we plan structural equation modeling analyses to disentangle the relationship between pre-school speech-sound endophenotypes, school-age reading measures, and associated candidate genes.

该子项目是利用该技术的众多研究子项目之一 资源由 NIH/NCRR 资助的中心拨款提供。子项目和 研究者 (PI) 可能已从 NIH 的另一个来源获得主要资金， 因此可以在其他 CRISP 条目中表示。列出的机构是 对于中心来说，它不一定是研究者的机构。 言语障碍（SSD）是一种复杂的行为障碍，其特征是与发音、语音过程和认知语言过程缺陷相关的言语声音产生错误。 SSD 常见于儿童期，并伴有语言、拼写和阅读障碍或阅读障碍。先前的研究表明，与言语和语言习得相关领域的发育问题使儿童面临阅读障碍的风险。最近的遗传学研究已经确定了几个导致阅读障碍的候选区域，其中一个位于芬兰大型谱系中的 3 号染色体上。为了探索 SSD 和阅读的常见遗传影响，我们对先前与阅读障碍相关的区域进行了连锁分析。 我们发现，与语音记忆、词汇、语音产生和语音表征相关的数量特征与 1、3、6 和 15 号染色体上的区域有关。这些结果表明 SSD 和阅读障碍的共同区域受到多效性影响。通过这些染色体区域中的基因座。 最近，我们通过患有 SSD 的儿童确定了这些家庭子集中的 Affymetrix 250k SNP 芯片的基因分型。 我们未来的计划包括分析这些全基因组关联数据以及新的候选基因 SNP 数据。 此外，我们计划进行结构方程模型分析，以理清学前语音内表型、学龄阅读测量和相关候选基因之间的关系。