Publications

@article{Darki2017,
title = {Human ROBO1 regulates white matter structure in corpus callosum},
author = {Fahimeh Darki and Satu Massinen and Elina Salmela and Hans Matsson and Myriam Peyrard-Janvid and Torkel Klingberg and Juha Kere},
doi = {10.1007/s00429-016-1240-y},
issn = {18632661},
year = {2017},
date = {2017-01-01},
journal = {Brain Structure and Function},
volume = {222},
number = {2},
pages = {707--716},
publisher = {Springer Berlin Heidelberg},
abstract = {textcopyright 2016, The Author(s). The axon guidance receptor, Robo1, controls the pathfinding of callosal axons in mice. To determine whether the orthologous ROBO1 gene is involved in callosal development also in humans, we studied polymorphisms in the ROBO1 gene and variation in the white matter structure in the corpus callosum using both structural magnetic resonance imaging and diffusion tensor magnetic resonance imaging. We found that five polymorphisms in the regulatory region of ROBO1 were associated with white matter density in the posterior part of the corpus callosum pathways. One of the polymorphisms, rs7631357, was also significantly associated with the probability of connections to the parietal cortical regions. Our results demonstrate that human ROBO1 may be involved in the regulation of the structure and connectivity of posterior part of corpus callosum.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}

@article{Darki2014,
title = {DCDC2 Polymorphism Is Associated with Left Temporoparietal Gray and White Matter Structures during Development},
author = {F Darki and M Peyrard-Janvid and H Matsson and J Kere and T Klingberg},
doi = {10.1523/jneurosci.1216-14.2014},
issn = {0270-6474},
year = {2014},
date = {2014-01-01},
journal = {Journal of Neuroscience},
volume = {34},
number = {43},
pages = {14455--14462},
abstract = {textcopyright 2014 the authors. Three genes, DYX1C1, DCDC2, and KIAA0319, have been previously associated with dyslexia, neuronal migration, and ciliary function. Three polymorphisms within these genes, rs3743204 (DYX1C1), rs793842 (DCDC2), and rs6935076 (KIAA0319) have also been linked to normal variability of left temporoparietal white matter volume connecting the middle temporal cortex to the angular and supramarginal gyri. Here, we assessed whether these polymorphisms are also related to the cortical thickness of the associated regions during childhood development using a longitudinal dataset of 76 randomly selected children and young adults who were scanned up to three times each, 2 years apart. rs793842 in DCDC2 was significantly associated with the thickness of left angular and supramarginal gyri as well as the left lateral occipital cortex. The cortex was significantly thicker for T-allele carriers, who also had lower white matter volume and lower reading comprehension scores. There was a negative correlation between white matter volume and cortical thickness, but only white matter volume predicted reading comprehension 2 years after scanning. These results show how normal variability in reading comprehension is related to gene, white matter volume, and cortical thickness in the inferior parietal lobe. Possibly, the variability of gray and white matter structures could both be related to the role of DCDC2 in ciliary function, which affects both neuronal migration and axonal outgrowth.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}

@article{Darki2012,
title = {Three Dyslexia Susceptibility Genes, DYX1C1, DCDC2, and KIAA0319, Affect Temporo-Parietal White Matter Structure},
author = {Fahimeh Darki and Myriam Peyrard-Janvid and Hans Matsson and Juha Kere and Torkel Klingberg},
url = {https://www.sciencedirect.com/science/article/pii/S0006322312004453 http://linkinghub.elsevier.com/retrieve/pii/S0006322312004453 http://dx.doi.org/10.1016/j.biopsych.2012.05.008},
doi = {10.1016/j.biopsych.2012.05.008},
issn = {00063223},
year = {2012},
date = {2012-10-01},
journal = {Biological Psychiatry},
volume = {72},
number = {8},
pages = {671--676},
publisher = {Elsevier},
abstract = {BACKGROUND Volume and integrity of white matter correlate with reading ability, but the underlying factors contributing to this variability are unknown. METHODS We investigated single nucleotide polymorphisms in three genes previously associated with dyslexia and implicated in neuronal migration (DYX1C1, DCDC2, KIAA0319) and white matter volume in a cohort of 76 children and young adults from the general population. RESULTS We found that all three genes contained polymorphisms that were significantly associated with white matter volume in the left temporo-parietal region and that white matter volume influenced reading ability. CONCLUSIONS The identified region contained white matter pathways connecting the middle temporal gyrus with the inferior parietal lobe. The finding links previous neuroimaging and genetic results and proposes a mechanism underlying variability in reading ability in both normal and impaired readers.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}

@article{Ziermans2012,
title = {Working memory brain activity and capacity link MAOA polymorphism to aggressive behavior during development},
author = {T Ziermans and I Dumontheil and C Roggeman and M Peyrard-Janvid and H Matsson and J Kere and T Klingberg},
url = {http://dx.doi.org/10.1038/tp.2012.7},
doi = {10.1038/tp.2012.7},
issn = {21583188},
year = {2012},
date = {2012-01-01},
journal = {Translational Psychiatry},
volume = {2},
number = {2},
pages = {e85--9},
publisher = {Nature Publishing Group},
abstract = {A developmental increase in working memory capacity is an important part of cognitive development, and low working memory (WM) capacity is a risk factor for developing psychopathology. Brain activity represents a promising endophenotype for linking genes to behavior and for improving our understanding of the neurobiology of WM development. We investigated gene-brain-behavior relationships by focusing on 18 single-nucleotide polymorphisms (SNPs) located in six dopaminergic candidate genes (COMT, SLC6A3/DAT1, DBH, DRD4, DRD5, MAOA). Visuospatial WM (VSWM) brain activity, measured with functional magnetic resonance imaging, and VSWM capacity were assessed in a longitudinal study of typically developing children and adolescents. Behavioral problems were evaluated using the Child Behavior Checklist (CBCL). One SNP (rs6609257), located ~6.6 kb downstream of the monoamine oxidase A gene (MAOA) on human chromosome X, significantly affected brain activity in a network of frontal, parietal and occipital regions. Increased activity in this network, but not in caudate nucleus or anterior prefrontal regions, was correlated with VSWM capacity, which in turn predicted externalizing (aggressive/oppositional) symptoms, with higher WM capacity associated with fewer externalizing symptoms. There were no direct significant correlations between rs6609257 and behavioral symptoms. These results suggest a mediating role of WM brain activity and capacity in linking the MAOA gene to aggressive behavior during development.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}