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Identification of NCAN as a candidate gene for developmental dyslexia.
Einarsdottir, Elisabet; Peyrard-Janvid, Myriam; Darki, Fahimeh; Tuulari, Jetro J; Merisaari, Harri; Karlsson, Linnea; Scheinin, Noora M; Saunavaara, Jani; Parkkola, Riitta; Kantojärvi, Katri; Ämmälä, Antti-Jussi; Yiu-Lin Yu, Nancy; Matsson, Hans; Nopola-Hemmi, Jaana; Karlsson, Hasse; Paunio, Tiina; Klingberg, Torkel; Leinonen, Eira; Kere, Juha.
Afiliación
  • Einarsdottir E; Folkhälsan Institute of Genetics, and Molecular Neurology Research Program, University of Helsinki, Helsinki, Finland. elisabet.einarsdottir@ki.se.
  • Peyrard-Janvid M; Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden. elisabet.einarsdottir@ki.se.
  • Darki F; Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden.
  • Tuulari JJ; Department of Neuroscience, Karolinska Institutet, Solna, Sweden.
  • Merisaari H; University of Turku, Institute of Clinical Medicine, Turku Brain and Mind Center, FinnBrain Birth Cohort Study, Turku, Finland.
  • Karlsson L; University of Turku, Institute of Clinical Medicine, Turku Brain and Mind Center, FinnBrain Birth Cohort Study, Turku, Finland.
  • Scheinin NM; Turku PET Centre, University of Turku, Turku, Finland.
  • Saunavaara J; University of Turku, Institute of Clinical Medicine, Turku Brain and Mind Center, FinnBrain Birth Cohort Study, Turku, Finland.
  • Parkkola R; University of Turku and Turku University Hospital, Department of Child Psychiatry, Turku, Finland.
  • Kantojärvi K; University of Turku, Institute of Clinical Medicine, Turku Brain and Mind Center, FinnBrain Birth Cohort Study, Turku, Finland.
  • Ämmälä AJ; University of Turku and Turku University Hospital, Department of Psychiatry, Turku, Finland.
  • Yiu-Lin Yu N; Department of Medical Physics, Turku University Hospital, Turku, Finland.
  • Matsson H; Department of Radiology, Turku University Hospital and Turku University, 20520, Turku, Finland.
  • Nopola-Hemmi J; Genomics and Biomarkers Unit, National Institute for Health and Welfare, Helsinki, Finland.
  • Karlsson H; Department of Psychiatry, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
  • Paunio T; Genomics and Biomarkers Unit, National Institute for Health and Welfare, Helsinki, Finland.
  • Klingberg T; Department of Psychiatry, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
  • Leinonen E; Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden.
  • Kere J; Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden.
Sci Rep ; 7(1): 9294, 2017 08 24.
Article en En | MEDLINE | ID: mdl-28839234
A whole-genome linkage analysis in a Finnish pedigree of eight cases with developmental dyslexia (DD) revealed several regions shared by the affected individuals. Analysis of coding variants from two affected individuals identified rs146011974G > A (Ala1039Thr), a rare variant within the NCAN gene co-segregating with DD in the pedigree. This variant prompted us to consider this gene as a putative candidate for DD. The RNA expression pattern of the NCAN gene in human tissues was highly correlated (R > 0.8) with that of the previously suggested DD susceptibility genes KIAA0319, CTNND2, CNTNAP2 and GRIN2B. We investigated the association of common variation in NCAN to brain structures in two data sets: young adults (Brainchild study, Sweden) and infants (FinnBrain study, Finland). In young adults, we found associations between a common genetic variant in NCAN, rs1064395, and white matter volume in the left and right temporoparietal as well as the left inferior frontal brain regions. In infants, this same variant was found to be associated with cingulate and prefrontal grey matter volumes. Our results suggest NCAN as a new candidate gene for DD and indicate that NCAN variants affect brain structure.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteoglicanos Tipo Condroitín Sulfato / Predisposición Genética a la Enfermedad / Lectinas Tipo C / Dislexia / Proteínas del Tejido Nervioso Tipo de estudio: Diagnostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Sci Rep Año: 2017 Tipo del documento: Article País de afiliación: Finlandia Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteoglicanos Tipo Condroitín Sulfato / Predisposición Genética a la Enfermedad / Lectinas Tipo C / Dislexia / Proteínas del Tejido Nervioso Tipo de estudio: Diagnostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Sci Rep Año: 2017 Tipo del documento: Article País de afiliación: Finlandia Pais de publicación: Reino Unido