Kerry A. Pettigrew|Emily Frinton|Ron Nudel|May T. M. Chan|Paul A. Thompson|Marianna E. Hayiou?Thomas|Joel B. Talcott|John Stein|Anthony P. Monaco|Charles Hulme|Margaret J. Snowling|Dianne F. Newbury|Silvia Paracchini
Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes
University of St Andrews|University of St Andrews|Wellcome Centre for Human Genetics|University of Oxford|Wellcome Centre for Human Genetics|University of Oxford|University of Oxford|University of York|Aston University|University of Oxford|Wellcome Centre for Human Genetics|University of Oxford|University College London|University of Oxford|Wellcome Centre for Human Genetics|University of Oxford|University of St Andrews
specific language impairment sli common neurodevelopmental disorder observed 510 children family twin studies suggest strong genetic component relatively candidate genes reported date recent genomewide association study gwas described first statistically significant association specifically sli cohort missense variant rs4280164 nop9 gene languagerelated phenotypes parentoforigin model replications findings particularly challenging availability parental dna required used two independent familybased cohorts characterised reading languagerelated traits longitudinal cohort n 106 informative families including children language reading difficulties nuclear family cohort n 264 families selected dyslexia observed association languagerelated measures modelling parentoforigin effects nop9 locus cohorts minimum p 0001 phonological awareness paternal effect first cohort minimum p 00004 irregular word reading maternal effect second cohort allelic parental trends consistent compared original study parentoforigin effect locus detected cohorts albeit different trends findings contribute interpreting original gwas report support investigations nop9 locus role languagerelated traits systematic evaluation parentoforigin effects genetic association studies potential reveal novel mechanisms underlying complex traits