| Title |
Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes
|
|---|---|
| Published in |
Journal of Neurodevelopmental Disorders, June 2016
|
| DOI | 10.1186/s11689-016-9157-6 |
| Pubmed ID | |
| Authors |
Kerry A. Pettigrew, Emily Frinton, Ron Nudel, May T. M. Chan, Paul Thompson, Marianna E. Hayiou-Thomas, Joel B. Talcott, John Stein, Anthony P. Monaco, Charles Hulme, Margaret J. Snowling, Dianne F. Newbury, Silvia Paracchini |
| Abstract |
Specific language impairment (SLI) is a common neurodevelopmental disorder, observed in 5-10 % of children. Family and twin studies suggest a strong genetic component, but relatively few candidate genes have been reported to date. A recent genome-wide association study (GWAS) described the first statistically significant association specifically for a SLI cohort between a missense variant (rs4280164) in the NOP9 gene and language-related phenotypes under a parent-of-origin model. Replications of these findings are particularly challenging because the availability of parental DNA is required. We used two independent family-based cohorts characterised with reading- and language-related traits: a longitudinal cohort (n = 106 informative families) including children with language and reading difficulties and a nuclear family cohort (n = 264 families) selected for dyslexia. We observed association with language-related measures when modelling for parent-of-origin effects at the NOP9 locus in both cohorts: minimum P = 0.001 for phonological awareness with a paternal effect in the first cohort and minimum P = 0.0004 for irregular word reading with a maternal effect in the second cohort. Allelic and parental trends were not consistent when compared to the original study. A parent-of-origin effect at this locus was detected in both cohorts, albeit with different trends. These findings contribute in interpreting the original GWAS report and support further investigations of the NOP9 locus and its role in language-related traits. A systematic evaluation of parent-of-origin effects in genetic association studies has the potential to reveal novel mechanisms underlying complex traits. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 33% |
| United Kingdom | 1 | 33% |
| Unknown | 1 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Practitioners (doctors, other healthcare professionals) | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 53 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 53 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 9 | 17% |
| Student > Master | 7 | 13% |
| Student > Ph. D. Student | 6 | 11% |
| Student > Bachelor | 5 | 9% |
| Professor | 5 | 9% |
| Other | 9 | 17% |
| Unknown | 12 | 23% |
| Readers by discipline | Count | As % |
|---|---|---|
| Psychology | 13 | 25% |
| Biochemistry, Genetics and Molecular Biology | 7 | 13% |
| Neuroscience | 7 | 13% |
| Social Sciences | 4 | 8% |
| Nursing and Health Professions | 2 | 4% |
| Other | 7 | 13% |
| Unknown | 13 | 25% |
Attention Score in Context
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#13,922,133
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Outputs from Journal of Neurodevelopmental Disorders
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Outputs of similar age from Journal of Neurodevelopmental Disorders
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