国家儿童发展研究中的纵向阅读测量和基因组归算:未来阅读研究的展望。

IF 1 4区 医学 Q4 GENETICS & HEREDITY Twin Research and Human Genetics Pub Date : 2023-02-01 DOI:10.1017/thg.2023.2
Elinor C Bridges, N William Rayner, Hayley S Mountford, Timothy C Bates, Michelle Luciano
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引用次数: 0

摘要

阅读困难在世界范围内普遍存在,包括在经济发达国家,并且与学习成绩低和失业有关。纵向研究已经确定了几个早期儿童阅读能力的预测因素,但研究往往缺乏基因型数据,无法测试具有遗传影响的预测因素。国家儿童发展研究(NCDS)是英国的一项出生队列研究,包含从7岁到成年的每个数据收集波的直接阅读技能变量,并包含可获得现代基因型数据的子样本(最终n = 6431)。它是目前可用的基因型数据中运行时间最长的英国队列研究之一,是一个丰富的数据集,具有未来阅读表型和基因与环境相互作用研究的巨大潜力。在这里,我们将基因型数据插入到单倍型参考面板,这是一个更新的参考面板,提供更高的插入质量。指导表型选择,我们报告了9个阅读变量的主成分分析,产生了基因分型样本中阅读能力的综合测量。我们建议使用复合分数和最可靠的变量,以便在儿童期进行纵向、遗传敏感的阅读能力分析时使用。
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Longitudinal Reading Measures and Genome Imputation in the National Child Development Study: Prospects for Future Reading Research.

Reading difficulties are prevalent worldwide, including in economically developed countries, and are associated with low academic achievement and unemployment. Longitudinal studies have identified several early childhood predictors of reading ability, but studies frequently lack genotype data that would enable testing of predictors with heritable influences. The National Child Development Study (NCDS) is a UK birth cohort study containing direct reading skill variables at every data collection wave from age 7 years through to adulthood with a subsample (final n = 6431) for whom modern genotype data are available. It is one of the longest running UK cohort studies for which genotyped data are currently available and is a rich dataset with excellent potential for future phenotypic and gene-by-environment interaction studies in reading. Here, we carry out imputation of the genotype data to the Haplotype Reference Panel, an updated reference panel that offers greater imputation quality. Guiding phenotype choice, we report a principal components analysis of nine reading variables, yielding a composite measure of reading ability in the genotyped sample. We include recommendations for use of composite scores and the most reliable variables for use during childhood when conducting longitudinal, genetically sensitive analyses of reading ability.

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来源期刊
Twin Research and Human Genetics
Twin Research and Human Genetics 医学-妇产科学
CiteScore
1.50
自引率
11.10%
发文量
37
审稿时长
6-12 weeks
期刊介绍: Twin Research and Human Genetics is the official journal of the International Society for Twin Studies. Twin Research and Human Genetics covers all areas of human genetics with an emphasis on twin studies, genetic epidemiology, psychiatric and behavioral genetics, and research on multiple births in the fields of epidemiology, genetics, endocrinology, fetal pathology, obstetrics and pediatrics. Through Twin Research and Human Genetics the society aims to publish the latest research developments in twin studies throughout the world.
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