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: 8171717
• 负责人: SUDHA K IYENGAR
• 金额: $ 0.99万
• 依托单位: CASE WESTERN RESERVE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-08-01 至 2011-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8171717
• 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; 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 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.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 言语障碍（SSD）是一种复杂的行为障碍，其特征是与表达，语音过程和认知语言过程中的缺陷有关的语音发现错误。 SSD在童年时期很普遍，并且与语言，拼写和阅读障碍或阅读障碍的疾病合并。先前的研究表明，与言语和语言获取相关的领域的发展问题使儿童处于诵读困境的危险中。最近的遗传研究已经确定了几个候选区域的阅读障碍区域，其中包括一种在大型芬兰血统中分离的染色体3。为了探索对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联系分析。 我们发现，与语音记忆，词汇，语音产生和语音表示相关的定量性状与染色体1、3、6和15的区域有关。这些结果表明，SSD和阅读障碍的域对受心律失常的影响受到这些染色体区域影响的全落叶影响。 最近，我们已经完成了通过患有SSD儿童确定的这些家庭中的Affymetrix 250K SNP芯片的基因分型。 我们的未来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，以解散学前教育的内部表型，学龄段阅读指标和相关候选基因之间的关系。