In search of the perfect phenotype: an analysis of linkage and association studies of reading and reading-related processes.
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.
Yale University, New Heaven, CT, USA.
Thomas
T
Skiba
Nicole
N
Landi
Richard
R
Wagner
Elena L
EL
Grigorenko
D000124:Achievement; D001289:Attention Deficit Disorder with Hyperactivity / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D002648:Child; D015897:Comorbidity; D003431:Cross-Cultural Comparison; D004200:Diseases in Twins / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D004410:Dyslexia / Q000235:genetics* / Q000523:psychology; D004519:Education, Special; D056726:Genetic Association Studies; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D007360:Intelligence / Q000235:genetics; D008126:Lod Score; D011939:Mental Recall; D018895:Microsatellite Repeats; D009483:Neuropsychological Tests; D010641:Phenotype; D010700:Phonetics; D014706:Verbal Learning
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