Identification of NCAN as a candidate gene for developmental dyslexia

Show full item record



Permalink

http://hdl.handle.net/10138/224366

Citation

Einarsdottir , E , Peyrard-Janvid , M , Darki , F , Tuulari , J J , Merisaari , H , Karlsson , L , Scheinin , N M , Saunavaara , J , Parkkola , R , Kantojarvi , K , Ammala , A-J , Yu , N Y-L , Matsson , H , Nopola-Hemmi , J , Karlsson , H , Paunio , T , Klingberg , T , Leinonen , E & Kere , J 2017 , ' Identification of NCAN as a candidate gene for developmental dyslexia ' , Scientific Reports , vol. 7 , 9294 . https://doi.org/10.1038/s41598-017-10175-7

Title: Identification of NCAN as a candidate gene for developmental dyslexia
Author: Einarsdottir, Elisabet; Peyrard-Janvid, Myriam; Darki, Fahimeh; Tuulari, Jetro J.; Merisaari, Harri; Karlsson, Linnea; Scheinin, Noora M.; Saunavaara, Jani; Parkkola, Riitta; Kantojarvi, Katri; Ammala, Antti-Jussi; Yu, Nancy Yiu-Lin; Matsson, Hans; Nopola-Hemmi, Jaana; Karlsson, Hasse; Paunio, Tiina; Klingberg, Torkel; Leinonen, Eira; Kere, Juha
Contributor: University of Helsinki, Research Programs Unit
University of Helsinki, Clinicum
University of Helsinki, Clinicum
University of Helsinki, Lastenneurologian yksikkö
University of Helsinki, University of Helsinki
University of Helsinki, Research Programs Unit
University of Helsinki, Research Programs Unit
Date: 2017-08-24
Language: eng
Number of pages: 11
Belongs to series: Scientific Reports
ISSN: 2045-2322
URI: http://hdl.handle.net/10138/224366
Abstract: 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.
Subject: RISK VARIANT RS10503253
GENOME-WIDE ASSOCIATION
VOXEL BASED MORPHOMETRY
WHITE-MATTER STRUCTURE
BIPOLAR DISORDER
READING-ABILITY
COMMON VARIATION
HEALTHY-SUBJECTS
BRAIN
SCHIZOPHRENIA
3111 Biomedicine
Rights:


Files in this item

Total number of downloads: Loading...

Files Size Format View
s41598_017_10175_7.pdf 1.776Mb PDF View/Open

This item appears in the following Collection(s)

Show full item record