The BDNF gene is a prominent promoter of neuronal development, maturation and plasticity. Its Val⁶⁶Met polymorphism affects brain morphology and function within several areas and is associated with several cognitive functions and neurodevelopmental disorder susceptibility. Recently, it has been associated with reading, reading-related traits and altered neural activation in reading–related brain regions. However, it remains unknown if the intermediate phenotypes (IPs, such as brain activation and phonological skills) mediate the pathway from gene to reading or reading disability. By conducting a serial multiple mediation model in a sample of 94 children (age 5–13), our findings revealed no direct effects of genotype on reading. Instead, we found that genotype is associated with brain activation in reading-related and more domain general regions which in turn is associated with phonological processing which is associated with reading. These findings suggest that the BDNF-Val⁶⁶Met polymorphism is related to reading via phonological processing and functional activation. These results support brain imaging data and neurocognitive traits as viable IPs for complex behaviors.

BDNF基因是神经元发育、成熟和可塑性的重要启动子。它的瓦尔⁶⁶Met 多态性影响多个区域内的大脑形态和功能，并与多种认知功能和神经发育障碍易感性相关。最近，它与阅读、阅读相关特征和阅读相关大脑区域的神经激活改变有关。然而，尚不清楚中间表型（IP，如大脑激活和语音技能）是否介导了从基因到阅读或阅读障碍的途径。通过对 94 名儿童（5-13 岁）的样本进行连续多重中介模型，我们的研究结果显示基因型对阅读没有直接影响。相反，我们发现基因型与阅读相关和更多领域的一般区域中的大脑激活相关，而这又与与阅读相关的语音处理相关。BDNF -Val ⁶⁶ Met 多态性与通过语音处理和功能激活的阅读有关。这些结果支持大脑成像数据和神经认知特征作为复杂行为的可行 IP。