Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.
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.
Affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.Show MeSH
Related in: MedlinePlus
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.
Affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.