Abstract
BackgroundOne of the most basic human traits is language. Linguistic ability, and disability, have been shown to have a strong genetic component in family and twin studies, but molecular genetic studies of language phenotypes are scarce, relative to studies of other cognitive traits and neurodevelopmental phenotypes. Moreover, most genetic studies examining such phenotypes do not incorporate parent-of-origin effects, which could account for some of the heritability of the investigated trait. We performed a genome-wide association study of receptive language, examining both child genetic effects and parent-of-origin effects.ResultsUsing a family-based cohort with 400 children with receptive language scores, we found a genome-wide significant paternal parent-of-origin effect with a SNP, rs11787922, on chromosome 9q21.31, whereby the T allele reduced the mean receptive language score by ~ 23, constituting a reduction of more than 1.5 times the population SD (P = 1.04 × 10−8). We further confirmed that this association was not driven by broader neurodevelopmental diagnoses in the child or a family history of psychiatric diagnoses by incorporating covariates for the above and repeating the analysis.ConclusionsOur study reports a genome-wide significant association for receptive language skills; to our knowledge, this is the first documented genome-wide significant association for this phenotype. Furthermore, our study illustrates the importance of considering parent-of-origin effects in association studies, particularly in the case of cognitive or neurodevelopmental traits, in which parental genetic data are not always incorporated.
Highlights
One of the most basic human traits is language
It should be mentioned that, in some cases, children who received an autism spectrum disorder (ASD) diagnosis might have received it in part due to having low language ability, as mentioned in the Methods section; not all children with ASD had Test for Reception of Grammar 2 (TROG-2) scores below the population mean for their age, and some had scores above the population mean
This association was not driven by the presence of two other neurodevelopmental disorders in which language may be impaired, namely ASD and attention deficit/hyperactivity disorder (ADHD), nor was it driven by the parents’ having a diagnosis of schizophrenia or bipolar disorder, despite the fact that the receptive language scores across individuals with ASD, ADHD or whose parents had the above psychiatric diagnoses were lower on average compared to the entire cohort
Summary
One of the most basic human traits is language. Linguistic ability, and disability, have been shown to have a strong genetic component in family and twin studies, but molecular genetic studies of language phenotypes are scarce, relative to studies of other cognitive traits and neurodevelopmental phenotypes. The investigated traits in those studies were either manifestations of atypical language development or of specific language skills in the general population [1], the genetic factors influencing the two do not have to be the same These insights were obtained through various study designs, such as twin studies and pedigree studies, which did not examine molecular genetic data. With advances in molecular genetic techniques and the establishment of samples with available language-related phenotypes, studies were performed whose goal was to identify genes (or genetic variants) associated with linguistic ability It was a series of studies of one extended pedigree which reported the first gene implicated in a speech and language disorder, FOXP2 [2,3,4]. A discrepancy between verbal and non-verbal intelligence is not required for the latter diagnosis
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