Yale Child Study Center, USA.
Dev Sci. 2013 Jan;16(1):13-23. doi: 10.1111/j.1467-7687.2012.01180.x. Epub 2012 Oct 3.
In both children and adults there is large variability in reading skill, with approximately 5-10% of individuals characterized as having reading disability; these individuals struggle to learn to read despite adequate intelligence and opportunity. Although it is well established that a substantial portion of this variability is attributed to the genetic differences between individuals, specifics of the connections between reading and the genome are not understood. This article presents data that suggest that variation in the COMT gene, which has previously been associated with variation in higher-order cognition, is associated with reading and reading-related skills, at the level of both brain and behavior. In particular, we found that the COMT Val/Met polymorphism at rs4680, which results in the substitution of the ancestral Valine (Val) by Methionine (Met), was associated with better performance on a number of critical reading measures and with patterns of functional neural activation that have been linked to better readers. We argue that this polymorphism, known for its broad effects on cognition, may modulate (likely through frontal lobe function) reading skill.
在儿童和成人中,阅读技能存在很大的可变性,大约有 5-10%的个体被认为患有阅读障碍;这些个体尽管智力和机会充足,但仍难以学习阅读。尽管已经充分证明这种可变性的很大一部分归因于个体之间的遗传差异,但阅读与基因组之间的具体联系尚不清楚。本文提供的数据表明,先前与高级认知变异相关的 COMT 基因的变异与阅读和阅读相关技能有关,无论是在大脑还是行为水平上。特别是,我们发现 COMT 基因 rs4680 上的 Val/Met 多态性,导致了原始 Valine(Val)被 Methionine(Met)取代,与多项关键阅读指标的表现以及与更好的读者相关的功能神经激活模式有关。我们认为,这种多态性以其对认知的广泛影响而闻名,可能通过额叶功能来调节(可能是通过额叶功能)阅读技能。