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Twin Res Hum Genet. 2023 Feb;26(1):10-20. doi: 10.1017/thg.2023.2. Epub 2023 Mar 10.
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Discovery of 42 genome-wide significant loci associated with dyslexia.发现与阅读障碍相关的 42 个全基因组显著位点。
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Using neuroimaging genomics to investigate the evolution of human brain structure.利用神经影像学基因组学研究人类大脑结构的演化。
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Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people.对多达 34000 人的定量评估阅读和语言相关技能的个体差异进行全基因组分析。
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阅读障碍多基因指数与社会经济地位对澳大利亚和英国阅读技能的交互作用

Dyslexia Polygenic Index and Socio-Economic Status Interaction Effects on Reading Skills in Australia and the United Kingdom.

作者信息

Bicona Diana, Mountford Hayley S, Bridges Elinor C, Fontanillas Pierre, Martin Nicholas G, Fisher Simon E, Bates Timothy C, Luciano Michelle

机构信息

Department of Psychology, School of Philosophy, Psychology and Language Sciences, University of Edinburgh, Edinburgh, UK.

23andMe, Inc, Sunnyvale, CA, USA.

出版信息

Behav Genet. 2025 Sep;55(5):395-406. doi: 10.1007/s10519-025-10230-4. Epub 2025 Sep 24.

DOI:10.1007/s10519-025-10230-4
PMID:40991152
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12494669/
Abstract

Literacy is a significant predictor of important life outcomes, such as attained education and income (Ritchie and Bates in Psychol Sci 24(7):1301-1308, 2013. 10.1177/0956797612466268) yet difficulties in reading and spelling are common. Both genetic and environmental factors account for individual differences in reading and spelling abilities (Little et al. in Behav Genet 47:52-76, 2017. 10.1007/s10519-016-9810-6), but there is some evidence that genetic factors can be moderated by environmental factors, many of which relate to differences in socio-economic status (SES). Studies in the US indicate that the heritability of reading and spelling abilities is higher in higher SES environments (Hart et al. in J Child Psychol Psychiatry 54(10):1047-1055, 2013. 10.1111/jcpp.12083; Friend et al. in Psychol Sci 19(11), 2008. 10.1111/j.1467-9280.2008.02213.x). Because countries differ in terms of factors such as education access and social mobility, the genetics (or simply gene) x SES interaction may or may not be present in other populations. Here, we utilise summary statistics from a well-powered genome-wide association study on dyslexia (Doust et al. in Nat Genet 54:1621-1629, 2022. 10.1038/s41588-022-01192-y) to construct polygenic indices in two cohorts of children/adolescents in Australia (N = 1315) and the United Kingdom (N = 5461 at age 7; N = 4306 at age 16), and test whether the effect of measured genes on variation in reading ability is moderated by family SES. While polygenic indices and SES both showed statistically significant effects on reading and spelling performance, no interaction effect was found. These results are contrary to results of some twin studies in the United States that have found an interaction effect. Yet, these findings support the broader literature on gene x SES interaction that mostly report no such interaction in other cognitive traits outside the United States suggesting country differences in how strongly SES relates to education quality.

摘要

读写能力是重要生活成果的重要预测指标,如受教育程度和收入(Ritchie和Bates,《心理科学》,2013年,第24卷第7期,第1301 - 1308页。doi:10.1177/0956797612466268),然而阅读和拼写困难却很常见。遗传和环境因素都导致了阅读和拼写能力的个体差异(Little等人,《行为遗传学》,2017年,第47卷,第52 - 76页。doi:10.1007/s10519-016-9810-6),但有证据表明遗传因素可受到环境因素的调节,其中许多环境因素与社会经济地位(SES)差异有关。美国的研究表明,在较高社会经济地位环境中,阅读和拼写能力的遗传度更高(Hart等人,《儿童心理学与精神病学杂志》,2013年,第54卷第10期,第1047 - 1055页。doi:10.1111/jcpp.12083;Friend等人,《心理科学》,2008年,第19卷第11期。doi:10.1111/j.1467-9280.2008.02213.x)。由于不同国家在教育机会和社会流动性等因素方面存在差异,基因(或简单地说基因)×社会经济地位的相互作用在其他人群中可能存在,也可能不存在。在此,我们利用一项关于诵读困难的大规模全基因组关联研究的汇总统计数据(Doust等人,《自然遗传学》,2022年,第54卷,第1621 - 1629页。doi:10.1038/s41588-022-01192-y),在澳大利亚的两组儿童/青少年(N = 1315)和英国的两组儿童/青少年(7岁时N = 5461;16岁时N = 4306)中构建多基因指数,并测试家庭社会经济地位是否会调节所测基因对阅读能力变异的影响。虽然多基因指数和社会经济地位对阅读和拼写表现均显示出统计学上的显著影响,但未发现相互作用效应。这些结果与美国一些双胞胎研究的结果相反,那些研究发现了相互作用效应。然而,这些发现支持了关于基因×社会经济地位相互作用的更广泛文献,这些文献大多报告在美国以外的其他认知特征中不存在这种相互作用,这表明不同国家在社会经济地位与教育质量的关联强度方面存在差异。