KIAA0319 and ROBO1: evidence on association with reading and pleiotropic effects on language and mathematics abilities in developmental dyslexia

التفاصيل البيبلوغرافية
العنوان: KIAA0319 and ROBO1: evidence on association with reading and pleiotropic effects on language and mathematics abilities in developmental dyslexia
المؤلفون: Roberto Giorda, Sara Mascheretti, Maria Rosaria Cellino, Cecilia Marino, Silvana Beri, Valentina Riva, Lara Francesca Emilia Lanzoni
المصدر: Journal of human genetics. 59(4)
سنة النشر: 2013
مصطلحات موضوعية: Proband, medicine.medical_specialty, Adolescent, Nerve Tissue Proteins, Biology, Quantitative trait locus, Language Development, Polymorphism, Single Nucleotide, Developmental psychology, Cohort Studies, Dyslexia, Cognition, Genetics, medicine, Humans, Receptors, Immunologic, Child, Nuclear family, Genetics (clinical), Genetic Association Studies, Language, Genetic Pleiotropy, Transmission disequilibrium test, Mathematical Concepts, medicine.disease, Developmental disorder, Phenotype, Genetic epidemiology, Reading, Trait, Medical genetics
الوصف: Substantial heritability has been reported for developmental dyslexia (DD), and KIAA0319 and ROBO1 appear as more than plausible candidate susceptibility genes for this developmental disorder. Converging evidence indicates that developmental difficulties in oral language and mathematics can predate or co-occur with DD, and substantial genetic correlations have been found between these abilities and reading traits. In this study, we explored the role of eight single-nucleotide polymorphisms spanning within KIAA0319 and ROBO1 genes, and DD as a dichotomic trait, related neuropsychological phenotypes and comorbid language and mathematical (dis)abilities in a large cohort of 493 Italian nuclear families ascertained through a proband with a diagnosis of DD. Marker-trait association was analyzed by implementing a general test of family-based association for quantitative traits (that is, the Quantitative Transmission Disequilibrium Test, version 2.5.1). By providing evidence for significant association with mathematics skills, our data add further result in support of ROBO1 contributing to the deficits in DD and its correlated phenotypes. Taken together, our findings shed further light into the etiologic basis and the phenotypic complexity of this developmental disorder.
تدمد: 1435-232X
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::826442afb179b0f9300a481d7078872dTest
https://pubmed.ncbi.nlm.nih.gov/24430574Test
حقوق: OPEN
رقم الانضمام: edsair.doi.dedup.....826442afb179b0f9300a481d7078872d
قاعدة البيانات: OpenAIRE