المؤلفون: Stefania Riva, Marco Villa, Vittoria Trezzi, Valentina Riva, Sara Mascheretti, Diego Forni, Alessandra Mozzi, Roberto Giorda, Rachele Cagliani, Manuela Sironi

المصدر: Neuropsychologia. 130:52-58

مصطلحات موضوعية: Adult, Male, Candidate gene, Genotype, Offspring, Cognitive Neuroscience, media_common.quotation_subject, Individuality, Experimental and Cognitive Psychology, Neuropsychological Tests, Polymorphism, Single Nucleotide, 050105 experimental psychology, Dyslexia, 03 medical and health sciences, Behavioral Neuroscience, 0302 clinical medicine, DCDC2, Pleiotropy, Reading (process), Humans, Genetic Predisposition to Disease, 0501 psychology and cognitive sciences, Child, Nuclear family, Genetic Association Studies, media_common, Genetics, 05 social sciences, Haplotype, Genetic Variation, Haplotypes, Reading, Trait, Female, Psychology, Microtubule-Associated Proteins, 030217 neurology & neurosurgery

الوصف: Developmental dyslexia (DD) is a complex neurodevelopmental heritable disorder. Among DD candidate genes, DCDC2 is one of the most replicated, with rs793862, READ1 and rs793842 likely contribute to phenotypic variability in reading (dis)ability. In this study, we tested the effects of these genetic variants on DD as a categorical trait and on quantitative reading-related measures in a sample of 555 Italian nuclear families with 930 offspring, of which 687 were diagnosed with DD. We conducted both single-marker and haplotype analyses, finding that the READ1-deletion was significantly associated with reading, whereas no significant haplotype associations were found. Our findings add further evidence to support the hypothesis of a DCDC2 contribution to inter-individual variation in distinct indicators of reading (dis)ability in transparent languages (i.e., reading accuracy and speed), suggesting a potential pleiotropic effect.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c5f4822515d7a27d63c20b9c1ade78cTest
https://doi.org/10.1016/j.neuropsychologia.2018.05.021Test

المؤلفون: Roberto Giorda, Vittoria Trezzi, Cecilia Marino, Diego Forni, Sara Mascheretti, Massimo Molteni, Marco Villa

المصدر: Journal of Human Genetics. 62:949-955

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Nerve Tissue Proteins, Biology, Dyslexia, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Polymorphism (computer science), DCDC2, Genetic variation, Genetics, medicine, Humans, Genetic Predisposition to Disease, Regulatory Elements, Transcriptional, Allele, Child, Gene, Genetic Association Studies, Genetics (clinical), Haplotype, medicine.disease, Phenotype, Introns, 030104 developmental biology, Haplotypes, Italy, Female, Microtubule-Associated Proteins, 030217 neurology & neurosurgery

الوصف: Developmental dyslexia (DD) is a complex heritable condition characterized by impaired reading abilities. Two well-replicated candidate risk factors are as follows: (1) regulatory element associated with dyslexia 1 (READ1), which is located in intron 2 of DCDC2 and acts as a binding site for protein regulation of DCDC2 expression; and (2) a three-single-nucleotide polymorphism risk haplotype spanning KIAA0319. Phylogenetically similar READ1 variants showed synergistic effects with the KIAA0319 risk haplotype on reading-related phenotypes in a general population sample. Here we examine the association between different allele classes in READ1, the KIAA0319 risk haplotype and reading-related traits in a cohort of 368 Italian children with DD and their siblings (n=266) by testing both main and non-additive effects. We replicated the deleterious main effects upon both reading accuracy and speed exerted by the longer READ1 alleles. We further supported the interdependence through non-additive, possibly antagonistic, effects between READ1 and the KIAA0319 risk haplotype on reading accuracy. By suggesting the presence of common biological processes underlying reading (dis)ability, these findings represent initial support for a generalist effect of the non-additive interdependence between READ1 and the KIAA0319 risk haplotype. Moreover, our results confirm that using as much information as possible about genetic interdependence among dyslexia-candidate genes can help in clinically assessing the individual risk for DD.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b31310626c6ae74bb57cc4125ae238dTest
https://doi.org/10.1038/jhg.2017.80Test

المؤلفون: Maria Nobile, Laura Vanzin, Roberto Giorda, Cecilia Marino, Giorgia Menozzi, Massimo Molteni, Alessandra Citterio, Maria Luisa Lorusso, Andrea Facoetti

مصطلحات موضوعية: Genetic Markers, Male, Linkage disequilibrium, Genotype, Intelligence, Short-term memory, Nerve Tissue Proteins, Single-nucleotide polymorphism, Neuropsychological Tests, Biology, Linkage Disequilibrium, Dyslexia, Behavioral Neuroscience, DCDC2, Genetics, Humans, Child, Association (psychology), Genetic association, Intelligence Tests, Haplotype, Nuclear Proteins, DNA, Phenotype, Cytoskeletal Proteins, Memory, Short-Term, Haplotypes, Reading, Neurology, Female, Psychomotor Performance

الوصف: A substantial genetic contribution in the etiology of developmental dyslexia (DD) has been well documented with independent groups reporting a susceptibility locus on chromosome 15q. After the identification of the DYX1C1 gene as a potential candidate for DD, several independent association studies reported controversial results. We performed a family-based association study to determine whether the DYX1C1 single nucleotide polymorphisms (SNPs) that have been associated with DD before, that is SNPs '-3GA' and '1249GT', influence a broader phenotypic definition of DD. A significant linkage disequilibrium was observed with 'Single Letter Backward Span' (SLBS) in both single-marker and haplotype analyses. These results provide further support to the association between DD and DYX1C1 and it suggests that the linkage disequilibrium with DYX1C1 is more saliently explained in Italian dyslexics by short-term memory, as measured by 'SLBS', than by the categorical diagnosis of DD or other related phenotypes.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef0eef0cf1512ec115530c34173a8ebfTest
http://hdl.handle.net/11577/1773598Test