TY  - JOUR
AU  - Csépe, Valéria
AU  - Honbolygó, Ferenc
TI  - From psychophysiology to brain imaging: forty-five years MMN history of investigating acoustic change sensitivity
JF  - BIOLOGIA FUTURA
J2  - BIOL FUTURA
VL  - 2024
PY  - 2024
SN  - 2676-8615
DO  - 10.1007/s42977-024-00216-4
UR  - https://m2.mtmt.hu/api/publication/34795630
ID  - 34795630
AB  - Forty-five years have passed since the first publication of the mismatch negativity (MMN) event-related brain potential (ERP) component. The first 10 years of research hardly gained any particular attention of the scientific community interested in acoustic perception. Debates on the nature of sensation versus perception were going on, and the technical possibilities to record ERPs, called in general evoked potentials, were very limited. Subtle changes in pure tone frequency or intensity giving rise to the MMN component were first investigated in humans. The background of the theoretical model developed by Risto Näätänen was the orientation reaction model of E.N. Sokolov published in 1963 so that the MMN was seen first as an electrophysiological correlate of auditory change detection. This fundamental ability of the auditory system seen as crucial for survival led to the development of the first animal model of the MMN (Csépe et al. in Clin Neurophysiol 66: 571–578, 1987). Indeed, it was confirmed that the MMN was the brain correlate of subtle changes detected that might alert to potential threats in the environment and direct the behavioral orientation. The investigations performed after 2000 introduced complex models and more sophisticated methods, both in animal and human studies, so that the MMN method was on the way to become a tool on the first place and not the main goal of research. This approach was further strengthened by the increasing number of studies on different clinical populations aiming at future applications. The aim of our review is to describe and redefine what the MMN may reflect in auditory perception and to show why and how this brain correlate of changes in the auditory scene can be used as a valuable tool in cognitive neuroscience research. We refer to publications selected to underly the argument the MMN cannot be classified anymore as a sign of simple change detection and not all the indicators used to confirm how genuine the MMN elicited by variations of tones are valid for those to  speech contrasts. We provide a fresh view on the broadly used MMN models, provided by some influential publications as well as on the unwritten history of MMN research aiming to give revised picture on what the MMN may truly reflect. We show how the focus and terminology of the MMN research have changed and what kind of misunderstandings and seemingly contradictive results prevent the MMN community to accept a generally usable cognitive model.
LA  - English
DB  - MTMT
ER  - 

TY  - JOUR
AU  - Kiss, Annamária
AU  - Csépe, Valéria
TI  - The role of cognitive control and naming in aphasia
JF  - BIOLOGIA FUTURA
J2  - BIOL FUTURA
VL  - 2024
PY  - 2024
SN  - 2676-8615
DO  - 10.1007/s42977-024-00212-8
UR  - https://m2.mtmt.hu/api/publication/34743153
ID  - 34743153
AB  - The classical aphasia literature has placed considerable emphasis on the language-centered understanding of aphasia and failed to consider the role of executive functions (EFs) regarding different aspects of patients’ performance. Many current studies suggest deficits in EFs in individuals with aphasia, however, the available data is still limited. Here, our aim was to investigate the impairment of EFs and its potential negative effects on naming (slower performance, increased reaction time and/or decreased accuracy). We sought to determine whether the poor performance observed in word fluency task correlated with similar outcomes in naming. Our study involved five Hungarian post stroke aphasic patients (2 males and 3 females) between the ages of 60 and 70, as well as a control group matched for age and gender. The participants were diagnosed with different types of aphasia (global, Wernicke’s, anomic and conduction). This study employed various neuropsychological and linguistic batteries. By comparing the patients’ performance to that of the control group, we aimed to investigate the impacts of stroke. Within the aphasia group, we observed difficulties in following complex commands and a connection between general slowness and reduced accuracy in naming. We concluded that impairment of executive functions may have a negative impact on naming, comprehension, and fluency. Therefore, it is important to consider functional variations in neural networks, and to base our interpretations on the available psychophysiological data in literature. Our findings provide an alternative perspective to the traditional assessment of aphasia and highlight the importance of considering the role of executive functions.
LA  - English
DB  - MTMT
ER  - 

TY  - JOUR
AU  - Zora, Hatice
AU  - Wester, Janniek
AU  - Csépe, Valéria
TI  - Predictions about prosody facilitate lexical access: Evidence from P50/N100 and MMN components
JF  - INTERNATIONAL JOURNAL OF PSYCHOPHYSIOLOGY
J2  - INT J PSYCHOPHYSIOL
VL  - 194
PY  - 2023
SN  - 0167-8760
DO  - 10.1016/j.ijpsycho.2023.112262
UR  - https://m2.mtmt.hu/api/publication/34479905
ID  - 34479905
LA  - English
DB  - MTMT
ER  - 

TY  - JOUR
AU  - Kóbor, Andrea
AU  - Tóth-Fáber, Eszter
AU  - Balogh-Kardos, Zsófia Klára
AU  - Takács, Ádám
AU  - Éltető, Noémi
AU  - Janacsek, Karolina
AU  - Csépe, Valéria
AU  - Németh, Dezső
TI  - Deterministic and probabilistic regularities underlying risky choices are acquired in a changing decision context
JF  - SCIENTIFIC REPORTS
J2  - SCI REP
VL  - 13
PY  - 2023
IS  - 1
SN  - 2045-2322
DO  - 10.1038/s41598-023-27642-z
UR  - https://m2.mtmt.hu/api/publication/33587111
ID  - 33587111
N1  - Brain Imaging Centre, Research Centre for Natural Sciences, Magyar tudósok körútja 2, Budapest, 1117, Hungary            
            Doctoral School of Psychology, ELTE Eötvös Loránd University, Izabella utca 46, Budapest, 1064, Hungary            
            Institute of Psychology, ELTE Eötvös Loránd University, Izabella utca 46, Budapest, 1064, Hungary            
            Brain, Memory and Language Research Group, Institute of Cognitive Neuroscience and Psychology, Research Centre for Natural Sciences, Magyar tudósok körútja 2, Budapest, 1117, Hungary            
            Department of Cognitive Science, Budapest University of Technology and Economics, Egry József utca 1, Budapest, 1111, Hungary            
            Cognitive Neurophysiology, Department of Child and Adolescent Psychiatry, Faculty of Medicine, TU Dresden, Fetscherstraße 74, Dresden, 01307, Germany            
            Max Planck Institute for Biological Cybernetics, Max-Planck-Ring 8, Tübingen, 72076, Germany            
            Centre of Thinking and Learning, Institute for Lifecourse Development, School of Human Sciences, Faculty of Education, Health and Human Sciences, University of Greenwich, Old Royal Naval College, Park Row, 150 Dreadnought, London, SE10 9LS, United Kingdom            
            Faculty of Modern Philology and Social Sciences, University of Pannonia, Egyetem utca 10, Veszprém, 8200, Hungary            
            Université Claude Bernard Lyon 1, CNRS, INSERM, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292, Bâtiment 462 – Neurocampus 95 Boulevard Pinel, Bron, F-69500, France                    
            Correspondence Address: Kóbor, A.; Brain Imaging Centre, Magyar tudósok körútja 2, Hungary; email: kobor.andrea@ttk.hu            
            Correspondence Address: Nemeth, D.; Université Claude Bernard Lyon 1, Bâtiment 462 – Neurocampus 95 Boulevard Pinel, France; email: dezso.nemeth@univ-lyon1.fr
AB  - Predictions supporting risky decisions could become unreliable when outcome probabilities temporarily change, making adaptation more challenging. Therefore, this study investigated whether sensitivity to the temporal structure in outcome probabilities can develop and remain persistent in a changing decision environment. In a variant of the Balloon Analogue Risk Task with 90 balloons, outcomes (rewards or balloon bursts) were predictable in the task’s first and final 30 balloons and unpredictable in the middle 30 balloons. The temporal regularity underlying the predictable outcomes differed across three experimental conditions. In the deterministic condition, a repeating three-element sequence dictated the maximum number of pumps before a balloon burst. In the probabilistic condition, a single probabilistic regularity ensured that burst probability increased as a function of pumps. In the hybrid condition, a repeating sequence of three different probabilistic regularities increased burst probabilities. In every condition, the regularity was absent in the middle 30 balloons. Participants were not informed about the presence or absence of the regularity. Sensitivity to both the deterministic and hybrid regularities emerged and influenced risk taking. Unpredictable outcomes of the middle phase did not deteriorate this sensitivity. In conclusion, humans can adapt their risky choices in a changing decision environment by exploiting the statistical structure that controls how the environment changes.
LA  - English
DB  - MTMT
ER  - 

TY  - CHAP
AU  - Csépe, Valéria
ED  - Di Blasio, Barbara
ED  - Demeter, Gáborné
TI  - TANULÁS, TANÍTÁS ÉS A VÉGREHAJTÓ FUNKCIÓK
T2  - Hatékony tanulás
PB  - Magyar Tudományos Akadémia Pécsi Területi Bizottsága III. Matematikai és Informatikai Tudományok Szakbizottság Szakmódszertan és Hatékony Tanulás Munkabizottság
CY  - Pécs
SN  - 9789636260804
PY  - 2022
SP  - 10
EP  - 24
PG  - 15
UR  - https://m2.mtmt.hu/api/publication/33721720
ID  - 33721720
AB  - A tanulmány a végrehajtó funkcióknak a tanulásban, társas és érzelmi fejlődésben és alkalmazkodásban betöltött szerepéből kiindulva mutatja be a tipikus fejlődés pszichológiai, pedagógiai és idegtudományi aspektusait. Bemutatja, hogy a fejlődést mely funkciók szerint követhetjük, s ezek atipikus fejlődése miként jelenik meg az egyén teljesítményében, s milyen kihívásokat jelent a pedagógiai munkában. A végrehajtó funkciók pszichológiai modelljeinek segítségével bemutatásra kerülnek azok a legfőbb összefüggések, amelyek az érzelemszabályozástól a társas interakciókon át a problémamegoldásig befolyásolhatják az iskolai sikert és az alacsony teljesítményt.
LA  - Hungarian
DB  - MTMT
ER  - 

TY  - GEN
AU  - Zora, H.
AU  - Csépe, Valéria
TI  - Inferential process of lexical access as evidenced by a mismatch negativity study
PY  - 2022
UR  - https://m2.mtmt.hu/api/publication/33371960
ID  - 33371960
LA  - English
DB  - MTMT
ER  - 

TY  - JOUR
AU  - Price, Kaitlyn M.
AU  - Wigg, Karen G.
AU  - Eising, Else
AU  - Feng, Yu
AU  - Blokland, Kirsten
AU  - Wilkinson, Margaret
AU  - Kerr, Elizabeth N.
AU  - Guger, Sharon L.
AU  - Abbondanza, Filippo
AU  - Allegrini, Andrea G.
AU  - Andlauer, Till F. M.
AU  - Bates, Timothy C.
AU  - Bernard, Manon
AU  - Bonte, Milene
AU  - Boomsma, Dorret I.
AU  - Bourgeron, Thomas
AU  - Brandeis, Daniel
AU  - Carreiras, Manuel
AU  - Ceroni, Fabiola
AU  - Csépe, Valéria
AU  - Dale, Philip S.
AU  - DeFries, John C.
AU  - de Jong, Peter F.
AU  - Démonet, Jean Francois
AU  - de Zeeuw, Eveline L.
AU  - Franken, Marie-Christine J.
AU  - Francks, Clyde
AU  - Gerritse, Margot
AU  - Gialluisi, Alessandro
AU  - Gordon, Scott D.
AU  - Gruen, Jeffrey R.
AU  - Hayiou-Thomas, Marianna E.
AU  - Hernández-Cabrera, Juan
AU  - Hottenga, Jouke-Jan
AU  - Hulme, Charles
AU  - Jansen, Philip R.
AU  - Kere, Juha
AU  - Koomar, Tanner
AU  - Landerl, Karin
AU  - Leonard, Gabriel T.
AU  - Liao, Zhijie
AU  - Luciano, Michelle
AU  - Lyytinen, Heikki
AU  - Martin, Nicholas G.
AU  - Martinelli, Angela
AU  - Maurer, Urs
AU  - Michaelson, Jacob J.
AU  - Mirza-Schreiber, Nazanin
AU  - Moll, Kristina
AU  - Monaco, Anthony P.
AU  - Morgan, Angela T.
AU  - Müller-Myhsok, Bertram
AU  - Newbury, Dianne F.
AU  - Nöthen, Markus M.
AU  - Olson, Richard K.
AU  - Paracchini, Silvia
AU  - Paus, Tomas
AU  - Pausova, Zdenka
AU  - Pennell, Craig E.
AU  - Pennington, Bruce F.
AU  - Plomin, Robert J.
AU  - Ramus, Franck
AU  - Reilly, Sheena
AU  - Richer, Louis
AU  - Rimfeld, Kaili
AU  - Schulte-Körne, Gerd
AU  - Shapland, Chin Yang
AU  - Simpson, Nuala H.
AU  - Smith, Shelley D.
AU  - Snowling, Margaret J.
AU  - St Pourcain, Beate
AU  - Stein, John F.
AU  - Talcott, Joel B.
AU  - Tiemeier, Henning
AU  - Tomblin, J. Bruce
AU  - Truong, Dongnhu T.
AU  - van Bergen, Elsje
AU  - van der Schroeff, Marc P.
AU  - Van Donkelaar, Marjolein
AU  - Verhoef, Ellen
AU  - Wang, Carol A.
AU  - Watkins, Kate E.
AU  - Whitehouse, Andrew J. O.
AU  - Willcutt, Erik G.
AU  - Wright, Margaret J.
AU  - Zhu, Gu
AU  - Fisher, Simon E.
AU  - Lovett, Maureen W.
AU  - Strug, Lisa J.
AU  - Barr, Cathy L.
TI  - Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities
JF  - TRANSLATIONAL PSYCHIATRY
J2  - TRANSL PSYCHIAT
VL  - 12
PY  - 2022
IS  - 1
PG  - 9
SN  - 2158-3188
DO  - 10.1038/s41398-022-02250-z
UR  - https://m2.mtmt.hu/api/publication/33365063
ID  - 33365063
AB  - Reading Disability (RD) is often characterized by difficulties in the phonology of the language. While the molecular mechanisms underlying it are largely undetermined, loci are being revealed by genome-wide association studies (GWAS). In a previous GWAS for word reading (Price, 2020), we observed that top single-nucleotide polymorphisms (SNPs) were located near to or in genes involved in neuronal migration/axon guidance (NM/AG) or loci implicated in autism spectrum disorder (ASD). A prominent theory of RD etiology posits that it involves disturbed neuronal migration, while potential links between RD-ASD have not been extensively investigated. To improve power to identify associated loci, we up-weighted variants involved in NM/AG or ASD, separately, and performed a new Hypothesis-Driven (HD)–GWAS. The approach was applied to a Toronto RD sample and a meta-analysis of the GenLang Consortium. For the Toronto sample ( n  = 624), no SNPs reached significance; however, by gene-set analysis, the joint contribution of ASD-related genes passed the threshold ( p ~1.45 × 10 –2 , threshold = 2.5 × 10 –2 ). For the GenLang Cohort ( n  = 26,558), SNPs in DOCK7 and CDH4 showed significant association for the NM/AG hypothesis (sFDR q = 1.02 × 10 –2 ). To make the GenLang dataset more similar to Toronto, we repeated the analysis restricting to samples selected for reading/language deficits ( n  = 4152). In this GenLang selected subset, we found significant association for a locus intergenic between BTG3 - C21orf91 for both hypotheses (sFDR q < 9.00 × 10 –4 ). This study contributes candidate loci to the genetics of word reading. Data also suggest that, although different variants may be involved, alleles implicated in ASD risk may be found in the same genes as those implicated in word reading. This finding is limited to the Toronto sample suggesting that ascertainment influences genetic associations.
LA  - English
DB  - MTMT
ER  - 

TY  - GEN
AU  - Kóbor, Andrea
AU  - Janacsek, Karolina
AU  - Hermann, Petra
AU  - Zavecz, Zsófia
AU  - Varga, Vera
AU  - Csépe, Valéria
AU  - Vidnyánszky, Zoltán
AU  - Kovács, Gyula
AU  - Németh, Dezső
TI  - Predictability-dependent encoding of statistical regularities in the early visual cortex
PY  - 2022
PG  - 48
DO  - 10.31234/osf.io/axq49
UR  - https://m2.mtmt.hu/api/publication/33188791
ID  - 33188791
LA  - English
DB  - MTMT
ER  - 

TY  - JOUR
AU  - Doust, Catherine
AU  - Fontanillas, Pierre
AU  - Eising, Else
AU  - Gordon, Scott D.
AU  - Wang, Zhengjun
AU  - Alagöz, Gökberk
AU  - Molz, Barbara
AU  - Aslibekyan, Stella
AU  - Auton, Adam
AU  - Babalola, Elizabeth
AU  - Bell, Robert K.
AU  - Bielenberg, Jessica
AU  - Bryc, Katarzyna
AU  - Bullis, Emily
AU  - Coker, Daniella
AU  - Partida, Gabriel Cuellar
AU  - Dhamija, Devika
AU  - Das, Sayantan
AU  - Elson, Sarah L.
AU  - Filshtein, Teresa
AU  - Fletez-Brant, Kipper
AU  - Freyman, Will
AU  - Gandhi, Pooja M.
AU  - Heilbron, Karl
AU  - Hicks, Barry
AU  - Hinds, David A.
AU  - Jewett, Ethan M.
AU  - Jiang, Yunxuan
AU  - Kukar, Katelyn
AU  - Lin, Keng-Han
AU  - Lowe, Maya
AU  - McCreight, Jey
AU  - McIntyre, Matthew H.
AU  - Micheletti, Steven J.
AU  - Moreno, Meghan E.
AU  - Mountain, Joanna L.
AU  - Nandakumar, Priyanka
AU  - Noblin, Elizabeth S.
AU  - O’Connell, Jared
AU  - Petrakovitz, Aaron A.
AU  - Poznik, G. David
AU  - Schumacher, Morgan
AU  - Shastri, Anjali J.
AU  - Shelton, Janie F.
AU  - Shi, Jingchunzi
AU  - Shringarpure, Suyash
AU  - Tran, Vinh
AU  - Tung, Joyce Y.
AU  - Wang, Xin
AU  - Wang, Wei
AU  - Weldon, Catherine H.
AU  - Wilton, Peter
AU  - Hernandez, Alejandro
AU  - Wong, Corinna
AU  - Tchakouté, Christophe Toukam
AU  - Abbondanza, Filippo
AU  - Allegrini, Andrea G.
AU  - Andlauer, Till F. M.
AU  - Barr, Cathy L.
AU  - Bernard, Manon
AU  - Blokland, Kirsten
AU  - Bonte, Milene
AU  - Boomsma, Dorret I.
AU  - Bourgeron, Thomas
AU  - Brandeis, Daniel
AU  - Carreiras, Manuel
AU  - Ceroni, Fabiola
AU  - Csépe, Valéria
AU  - Dale, Philip S.
AU  - de Jong, Peter F.
AU  - Démonet, Jean Francois
AU  - de Zeeuw, Eveline L.
AU  - Feng, Yu
AU  - Franken, Marie-Christine J.
AU  - Gerritse, Margot
AU  - Gialluisi, Alessandro
AU  - Guger, Sharon L.
AU  - Hayiou-Thomas, Marianna E.
AU  - Hernández-Cabrera, Juan
AU  - Hottenga, Jouke-Jan
AU  - Hulme, Charles
AU  - Jansen, Philip R.
AU  - Kere, Juha
AU  - Kerr, Elizabeth N.
AU  - Koomar, Tanner
AU  - Landerl, Karin
AU  - Leonard, Gabriel T.
AU  - Liao, Zhijie
AU  - Lovett, Maureen W.
AU  - Lyytinen, Heikki
AU  - Martinelli, Angela
AU  - Maurer, Urs
AU  - Michaelson, Jacob J.
AU  - Mirza-Schreiber, Nazanin
AU  - Moll, Kristina
AU  - Morgan, Angela T.
AU  - Müller-Myhsok, Bertram
AU  - Newbury, Dianne F.
AU  - Nöthen, Markus M.
AU  - Paus, Tomas
AU  - Pausova, Zdenka
AU  - Pennell, Craig E.
AU  - Plomin, Robert J.
AU  - Price, Kaitlyn M.
AU  - Ramus, Franck
AU  - Reilly, Sheena
AU  - Richer, Louis
AU  - Rimfeld, Kaili
AU  - Schulte-Körne, Gerd
AU  - Shapland, Chin Yang
AU  - Simpson, Nuala H.
AU  - Snowling, Margaret J.
AU  - Stein, John F.
AU  - Strug, Lisa J.
AU  - Tiemeier, Henning
AU  - Tomblin, J. Bruce
AU  - Truong, Dongnhu T.
AU  - van Bergen, Elsje
AU  - van der Schroeff, Marc P.
AU  - Van Donkelaar, Marjolein
AU  - Verhoef, Ellen
AU  - Wang, Carol A.
AU  - Watkins, Kate E.
AU  - Whitehouse, Andrew J. O.
AU  - Wigg, Karen G.
AU  - Wilkinson, Margaret
AU  - Zhu, Gu
AU  - Pourcain, Beate St
AU  - Francks, Clyde
AU  - Marioni, Riccardo E.
AU  - Zhao, Jingjing
AU  - Paracchini, Silvia
AU  - Talcott, Joel B.
AU  - Monaco, Anthony P.
AU  - Stein, John F.
AU  - Gruen, Jeffrey R.
AU  - Olson, Richard K.
AU  - Willcutt, Erik G.
AU  - DeFries, John C.
AU  - Pennington, Bruce F.
AU  - Smith, Shelley D.
AU  - Wright, Margaret J.
AU  - Martin, Nicholas G.
AU  - Auton, Adam
AU  - Bates, Timothy C.
AU  - Fisher, Simon E.
AU  - Luciano, Michelle
TI  - Discovery of 42 genome-wide significant loci associated with dyslexia
JF  - NATURE GENETICS
J2  - NAT GENET
VL  - 54
PY  - 2022
SN  - 1061-4036
DO  - 10.1038/s41588-022-01192-y
UR  - https://m2.mtmt.hu/api/publication/33188249
ID  - 33188249
AB  - Reading and writing are crucial life skills but roughly one in ten children are affected by dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70%, yet few convincing genetic markers have been found. Here we performed a genome-wide association study of 51,800 adults self-reporting a dyslexia diagnosis and 1,087,070 controls and identified 42 independent genome-wide significant loci: 15 in genes linked to cognitive ability/educational attainment, and 27 new and potentially more specific to dyslexia. We validated 23 loci (13 new) in independent cohorts of Chinese and European ancestry. Genetic etiology of dyslexia was similar between sexes, and genetic covariance with many traits was found, including ambidexterity, but not neuroanatomical measures of language-related circuitry. Dyslexia polygenic scores explained up to 6% of variance in reading traits, and might in future contribute to earlier identification and remediation of dyslexia.
LA  - English
DB  - MTMT
ER  - 

TY  - JOUR
AU  - Eising, Else
AU  - Mirza-Schreiber, Nazanin
AU  - de Zeeuw, Eveline L.
AU  - Wang, Carol A.
AU  - Truong, Dongnhu T.
AU  - Allegrini, Andrea G.
AU  - Shapland, Chin Yang
AU  - Zhu, Gu
AU  - Wigg, Karen G.
AU  - Gerritse, Margot L.
AU  - Molz, Barbara
AU  - Alagöz, Gökberk
AU  - Gialluisi, Alessandro
AU  - Abbondanza, Filippo
AU  - Rimfeld, Kaili
AU  - van Donkelaar, Marjolein
AU  - Liao, Zhijie
AU  - Jansen, Philip R.
AU  - Andlauer, Till F. M.
AU  - Bates, Timothy C.
AU  - Bernard, Manon
AU  - Blokland, Kirsten
AU  - Bonte, Milene
AU  - Børglum, Anders D.
AU  - Bourgeron, Thomas
AU  - Brandeis, Daniel
AU  - Ceroni, Fabiola
AU  - Csépe, Valéria
AU  - Dale, Philip S.
AU  - de Jong, Peter F.
AU  - DeFries, John C.
AU  - Démonet, Jean-François
AU  - Demontis, Ditte
AU  - Feng, Yu
AU  - Gordon, Scott D.
AU  - Guger, Sharon L.
AU  - Hayiou-Thomas, Marianna E.
AU  - Hernández-Cabrera, Juan A.
AU  - Hottenga, Jouke-Jan
AU  - Hulme, Charles
AU  - Kere, Juha
AU  - Kerr, Elizabeth N.
AU  - Koomar, Tanner
AU  - Landerl, Karin
AU  - Leonard, Gabriel T.
AU  - Lovett, Maureen W.
AU  - Lyytinen, Heikki
AU  - Martin, Nicholas G.
AU  - Martinelli, Angela
AU  - Maurer, Urs
AU  - Michaelson, Jacob J.
AU  - Moll, Kristina
AU  - Monaco, Anthony P.
AU  - Morgan, Angela T.
AU  - Nöthen, Markus M.
AU  - Pausova, Zdenka
AU  - Pennell, Craig E.
AU  - Pennington, Bruce F.
AU  - Price, Kaitlyn M.
AU  - Rajagopal, Veera M.
AU  - Ramus, Franck
AU  - Richer, Louis
AU  - Simpson, Nuala H.
AU  - Smith, Shelley D.
AU  - Snowling, Margaret J.
AU  - Stein, John
AU  - Strug, Lisa J.
AU  - Talcott, Joel B.
AU  - Tiemeier, Henning
AU  - van der Schroeff, Marc P.
AU  - Verhoef, Ellen
AU  - Watkins, Kate E.
AU  - Wilkinson, Margaret
AU  - Wright, Margaret J.
AU  - Barr, Cathy L.
AU  - Boomsma, Dorret I.
AU  - Carreiras, Manuel
AU  - Franken, Marie-Christine J.
AU  - Gruen, Jeffrey R.
AU  - Luciano, Michelle
AU  - Müller-Myhsok, Bertram
AU  - Newbury, Dianne F.
AU  - Olson, Richard K.
AU  - Paracchini, Silvia
AU  - Paus, Tomáš
AU  - Plomin, Robert
AU  - Reilly, Sheena
AU  - Schulte-Körne, Gerd
AU  - Tomblin, J. Bruce
AU  - van Bergen, Elsje
AU  - Whitehouse, Andrew J. O.
AU  - Willcutt, Erik G.
AU  - St Pourcain, Beate
AU  - Francks, Clyde
AU  - Fisher, Simon E.
TI  - Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people
JF  - PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
J2  - P NATL ACAD SCI USA
VL  - 119
PY  - 2022
IS  - 35
SN  - 0027-8424
DO  - 10.1073/pnas.2202764119
UR  - https://m2.mtmt.hu/api/publication/33084651
ID  - 33084651
AB  - The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered. We present a multicohort genome-wide association study (GWAS) of five traits assessed individually using psychometric measures (word reading, nonword reading, spelling, phoneme awareness, and nonword repetition) in samples of 13,633 to 33,959 participants aged 5 to 26 y. We identified genome-wide significant association with word reading (rs11208009, P = 1.098 × 10 −8 ) at a locus that has not been associated with intelligence or educational attainment. All five reading-/language-related traits showed robust SNP heritability, accounting for 13 to 26% of trait variability. Genomic structural equation modeling revealed a shared genetic factor explaining most of the variation in word/nonword reading, spelling, and phoneme awareness, which only partially overlapped with genetic variation contributing to nonword repetition, intelligence, and educational attainment. A multivariate GWAS of word/nonword reading, spelling, and phoneme awareness maximized power for follow-up investigation. Genetic correlation analysis with neuroimaging traits identified an association with the surface area of the banks of the left superior temporal sulcus, a brain region linked to the processing of spoken and written language. Heritability was enriched for genomic elements regulating gene expression in the fetal brain and in chromosomal regions that are depleted of Neanderthal variants. Together, these results provide avenues for deciphering the biological underpinnings of uniquely human traits.
LA  - English
DB  - MTMT
ER  -