We analyzed genetic linkage and association of measures of language, speech and reading phenotypes to candidate regions in
a single set of families ascertained for SLI. Sib-pair and family-based analyses were carried out for candidate gene loci
for Reading Disability (RD) on chromosomes 1p36, 3p12-q13, 6p22, and 15q21, and the speech-language candidate region on 7q31
in a sample of 322 participants ascertained for Specific Language Impairment (SLI). Replication or suggestive replication
of linkage was obtained in all of these regions, but the evidence suggests that the genetic influences may not be identical
for the three domains. In particular, linkage analysis replicated the influence of genes on chromosome 6p for all three domains,
but association analysis indicated that only one of the candidate genes for reading disability, KIAA0319, had a strong effect
on language phenotypes. The findings are consistent with a multiple gene model of the comorbidity between language impairments
and reading disability and have implications for neurocognitive developmental models and maturational processes.
Keywords Gene linkage - Language, reading, speech phenotypes - Language impairments - Specific language impairment - Gene associations