Reading and language abilities are critical for educational achievement and success in adulthood. Variation in these traits is highly heritable, but the underlying genetic architecture is largely undiscovered. Genetic studies of reading and language skills traditionally focus on children with developmental disorders; however, much larger unselected adult samples are available, increasing power to identify associations with specific genetic variants of small effect size. We introduce an Australian adult population cohort (41.7–73.2 years of age, N = 1505) in which we obtained data using validated measures of several aspects of reading and language abilities. We performed genetic association analysis for a reading and spelling composite score, nonword reading (assessing phonological processing: a core component in learning to read), phonetic spelling, self-reported reading impairment and nonword repetition (a marker of language ability). Given the limited power in a sample of this size (~80% power to find a minimum effect size of 0.005), we focused on analyzing candidate genes that have been associated with dyslexia and developmental speech and language disorders in prior studies. In gene-based tests, FOXP2, a gene implicated in speech/language disorders, was associated with nonword repetition (p < .001), phonetic spelling (p = .002) and the reading and spelling composite score (p < .001). Gene-set analyses of candidate dyslexia and speech/language disorder genes were not significant. These findings contribute to the assessment of genetic associations in reading and language disorders, crucial for understanding their etiology and informing intervention strategies, and validate the approach of using unselected adult samples for gene discovery in language and reading.

中文翻译：

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阅读障碍和发育性言语和语言障碍候选基因与成人阅读和语言能力的关联

阅读和语言能力对于成年后的教育成就和成功至关重要。这些性状的变异是高度可遗传的，但潜在的遗传结构在很大程度上未被发现。阅读和语言技能的遗传研究传统上侧重于发育障碍儿童；然而，更大的未选择成人样本可用，从而增加了识别与小效应大小的特定遗传变异关联的能力。我们介绍了一个澳大利亚成年人群（41.7-73.2 岁，ñ= 1505），其中我们使用经过验证的阅读和语言能力几个方面的测量来获得数据。我们对阅读和拼写综合得分、非单词阅读（评估语音处理：学习阅读的核心组成部分）、语音拼写、自我报告的阅读障碍和非单词重复（语言能力的标志）进行了遗传关联分析。鉴于这种大小样本的能力有限（约 80% 的能力可以找到 0.005 的最小效应大小），我们专注于分析与先前研究中的阅读障碍和发育性言语和语言障碍相关的候选基因。在基于基因的测试中，福克斯2，一个与言​​语/语言障碍有关的基因，与非单词重复有关（p< .001), 拼音 (p= .002) 和阅读和拼写综合得分 (p< .001)。候选阅读障碍和言语/语言障碍基因的基因组分析不显着。这些发现有助于评估阅读和语言障碍中的遗传关联，这对于了解其病因和告知干预策略至关重要，并验证了使用未经选择的成人样本进行语言和阅读基因发现的方法。