Yale University, New Heaven, CT, USA.
Behav Genet. 2011 Jan;41(1):6-30. doi: 10.1007/s10519-011-9444-7. Epub 2011 Jan 19.
Reading ability and specific reading disability (SRD) are complex traits involving several cognitive processes and are shaped by a complex interplay of genetic and environmental forces. Linkage studies of these traits have identified several susceptibility loci. Association studies have gone further in detecting candidate genes that might underlie these signals. These results have been obtained in samples of mainly European ancestry, which vary in their languages, inclusion criteria, and phenotype assessments. Such phenotypic heterogeneity across samples makes understanding the relationship between reading (dis)ability and reading-related processes and the genetic factors difficult; in addition, it may negatively influence attempts at replication. In moving forward, the identification of preferable phenotypes for future sample collection may improve the replicability of findings. This review of all published linkage and association results from the past 15 years was conducted to determine if certain phenotypes produce more replicable and consistent results than others.
阅读能力和特定阅读障碍（SRD）是涉及多个认知过程的复杂特征，受遗传和环境力量的复杂相互作用影响。这些特征的连锁研究已经确定了几个易感位点。关联研究更进一步，检测了可能构成这些信号的候选基因。这些结果是在主要具有欧洲血统的样本中获得的，这些样本在语言、纳入标准和表型评估方面存在差异。样本之间的这种表型异质性使得理解阅读（障碍）能力和阅读相关过程与遗传因素之间的关系变得困难；此外，它可能会对复制尝试产生负面影响。在向前推进的过程中，确定未来样本采集的优选表型可能会提高发现的可重复性。对过去 15 年所有已发表的连锁和关联研究结果的回顾旨在确定某些表型是否比其他表型产生更可重复和一致的结果。
