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Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.

Nudel R, Simpson NH, Baird G, O'Hare A, Conti-Ramsden G, Bolton PF, Hennessy ER, SLI ConsortiumRing SM, Davey Smith G, Francks C, Paracchini S, Monaco AP, Fisher SE, Newbury DF - Genes Brain Behav. (2014)

Bottom Line: We found genome-wide significant paternal parent-of-origin effects on chromosome 14q12 (P = 3.74 × 10(-8)) and suggestive maternal parent-of-origin effects on chromosome 5p13 (P = 1.16 × 10(-7)).The paternally-associated SNP on chromosome 14 yields a non-synonymous coding change within the NOP9 gene.This gene encodes an RNA-binding protein that has been reported to be significantly dysregulated in individuals with schizophrenia.

View Article: PubMed Central - PubMed

Affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

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Results of the maternal parent-of-origin effects association analysis. (a) Manhattan plot for the maternal parent-of-origin effects association analysis. (b) QQ plot for the maternal parent-of-origin effects association analysis with 95% confidence intervals.
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fig03: Results of the maternal parent-of-origin effects association analysis. (a) Manhattan plot for the maternal parent-of-origin effects association analysis. (b) QQ plot for the maternal parent-of-origin effects association analysis with 95% confidence intervals.

Mentions: We detected maternal parent-of-origin effects on chromosomal band 5p13 (Fig. 3a). The highest SNP (rs10447141) in the peak had a P-value of 1.16 × 10−7, and, again, it deviated from the ‘expected’ line on the QQ plot (Fig. 3b). The peak of association spans ∼300 kb (39 784 227–40 086 058, hg18) and encompasses 13 SNPs. The LD levels across the associated SNPs reached r2 = 0.8. Table1 includes the P-values for all SNPs in the peaks on chromosomes 5 and 14, and all associations with P ≤ 10−4 are available in Appendix S1. Figure 4 includes close-up plots of the association peaks.


Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.

Nudel R, Simpson NH, Baird G, O'Hare A, Conti-Ramsden G, Bolton PF, Hennessy ER, SLI ConsortiumRing SM, Davey Smith G, Francks C, Paracchini S, Monaco AP, Fisher SE, Newbury DF - Genes Brain Behav. (2014)

Results of the maternal parent-of-origin effects association analysis. (a) Manhattan plot for the maternal parent-of-origin effects association analysis. (b) QQ plot for the maternal parent-of-origin effects association analysis with 95% confidence intervals.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4114547&req=5

fig03: Results of the maternal parent-of-origin effects association analysis. (a) Manhattan plot for the maternal parent-of-origin effects association analysis. (b) QQ plot for the maternal parent-of-origin effects association analysis with 95% confidence intervals.
Mentions: We detected maternal parent-of-origin effects on chromosomal band 5p13 (Fig. 3a). The highest SNP (rs10447141) in the peak had a P-value of 1.16 × 10−7, and, again, it deviated from the ‘expected’ line on the QQ plot (Fig. 3b). The peak of association spans ∼300 kb (39 784 227–40 086 058, hg18) and encompasses 13 SNPs. The LD levels across the associated SNPs reached r2 = 0.8. Table1 includes the P-values for all SNPs in the peaks on chromosomes 5 and 14, and all associations with P ≤ 10−4 are available in Appendix S1. Figure 4 includes close-up plots of the association peaks.

Bottom Line: We found genome-wide significant paternal parent-of-origin effects on chromosome 14q12 (P = 3.74 × 10(-8)) and suggestive maternal parent-of-origin effects on chromosome 5p13 (P = 1.16 × 10(-7)).The paternally-associated SNP on chromosome 14 yields a non-synonymous coding change within the NOP9 gene.This gene encodes an RNA-binding protein that has been reported to be significantly dysregulated in individuals with schizophrenia.

View Article: PubMed Central - PubMed

Affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

Show MeSH
Related in: MedlinePlus