Mediational effects of reading-related intermediate phenotypes from polygenic scores to reading skills

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Udgivet i:NPJ Science of Learning vol. 10, no. 1 (2025), p. 56-66
Hovedforfatter: Remon, Alexandra
Andre forfattere: Mascheretti, Sara, Voronin, Ivan, Feng, Bei, Ouellet-Morin, Isabelle, Brendgen, Mara, Vitaro, Frank, Robaey, Philippe, Andlauer, Till F. M., Boivin, Michel, Dionne, Ginette
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022 |a 2056-7936 
024 7 |a 10.1038/s41539-025-00346-x  |2 doi 
035 |a 3241071876 
045 2 |b d20250101  |b d20251231 
084 |a 274874  |2 nlm 
100 1 |a Remon, Alexandra  |u School of Psychology, Université Laval, Québec city, QC, Canada (ROR: https://ror.org/04sjchr03) (GRID: grid.23856.3a) (ISNI: 0000 0004 1936 8390) 
245 1 |a Mediational effects of reading-related intermediate phenotypes from polygenic scores to reading skills 
260 |b Nature Publishing Group  |c 2025 
513 |a Journal Article 
520 3 |a Reading is a fundamental human capacity that recruits and tunes brain circuitry subserving several neurocognitive skills. Individual differences in reading-related skills are largely influenced by genetic variation. However, the molecular basis of the heritability of reading-related skills remains narrowly replicated. Genome-wide association studies have enabled the computation of cumulative indices (polygenic scores-PGSs) aiming to capture individuals’ genetic susceptibility for a given trait. By using a multiple-mediator framework, we investigated whether the associations between a reading-specific PGS (Reading-PGS) and reading decoding and comprehension could be explained by reading-related endophenotypes (i.e., phonological awareness-PA, phonological memory, rapid auditory processing, rapid bimodal temporal processing-RBTP, and rapid automatized naming) in a sample of 8-year-old French-speaking Canadian twins (N = 328 subjects (87 MZ and 241 DZ) from 208 twin pairs—one child per MZ pairs; males, N = 159). The association between Reading-PGS and reading performance is partially mediated by PA and RBTP. Furthermore, we supported the specificity of the direct and indirect effects between Reading-PGS and reading skills after controlling for the shared genetic variation with educational attainment and cognitive ability. Finally, we uncovered a sequence from Reading-PGS to behavior mediated through sensory processing and phonological skills, supporting one of the most robust theoretical hypothesis underlying reading acquisitions. PGSs specifically targeting reading skills are essential for improved prediction and understanding of the complex etiology through which reading skills unfold during childhood. This will facilitate the early identification of children with a genetic susceptibility for reading (dis)ability at a time when these phenotypes remain malleable to intervention. 
653 |a Reading comprehension 
653 |a French language 
653 |a Memory 
653 |a Brain 
653 |a Phenotypes 
653 |a Polygenic inheritance 
653 |a Genomes 
653 |a Cognitive ability 
653 |a Phonology 
653 |a Cognition & reasoning 
653 |a Twins 
653 |a Genetic engineering 
653 |a Phonological memory 
653 |a Linguistics 
653 |a Heritability 
653 |a Information processing 
653 |a Reading ability 
653 |a Educational attainment 
653 |a Decoding 
653 |a Cognition 
653 |a Genome-wide association studies 
653 |a Language 
653 |a Auditory processing 
653 |a Naming 
653 |a Longitudinal studies 
653 |a Sound 
653 |a Skills 
653 |a Individual differences 
653 |a Children 
653 |a Phonological processing 
653 |a Temporal processing 
653 |a Phonological awareness 
653 |a Sensory integration 
653 |a Genetic diversity 
653 |a Childhood 
653 |a Reading 
653 |a Computation 
653 |a Indirect effects 
653 |a Genomics 
653 |a Cognitive functioning 
653 |a Attainment 
653 |a Consciousness 
653 |a Recruits 
653 |a Susceptibility 
653 |a Comprehension 
653 |a Genetic susceptibility 
653 |a Etiology 
653 |a Genetics 
653 |a Sensory processes 
653 |a Reading Instruction 
653 |a Sample Size 
653 |a Reading Fluency 
653 |a Auditory Stimuli 
653 |a Short Term Memory 
653 |a Thinking Skills 
653 |a Attention 
653 |a Structural Equation Models 
653 |a Reading Skills 
653 |a Meta Analysis 
653 |a Auditory Perception 
653 |a Decoding (Reading) 
700 1 |a Mascheretti, Sara  |u Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy (ROR: https://ror.org/00s6t1f81) (GRID: grid.8982.b) (ISNI: 0000 0004 1762 5736); Child Psychopathology Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy (ROR: https://ror.org/05ynr3m75) (GRID: grid.420417.4) (ISNI: 0000 0004 1757 9792) 
700 1 |a Voronin, Ivan  |u School of Psychology, Université Laval, Québec city, QC, Canada (ROR: https://ror.org/04sjchr03) (GRID: grid.23856.3a) (ISNI: 0000 0004 1936 8390) 
700 1 |a Feng, Bei  |u School of Psychology, Université Laval, Québec city, QC, Canada (ROR: https://ror.org/04sjchr03) (GRID: grid.23856.3a) (ISNI: 0000 0004 1936 8390) 
700 1 |a Ouellet-Morin, Isabelle  |u School of Criminology, University of Montreal, Montreal, QC, Canada (ROR: https://ror.org/0161xgx34) (GRID: grid.14848.31) (ISNI: 0000 0001 2104 2136); Centre for Studies on Human Stress, Research Centre of the Montreal Mental Health Institute, Montreal, QC, Canada 
700 1 |a Brendgen, Mara  |u Department of Psychology, University of Québec at Montreal, Montréal, QC, Canada (ROR: https://ror.org/002rjbv21) (GRID: grid.38678.32) (ISNI: 0000 0001 2181 0211); Ste-Justine Hospital Research Center, Montreal, Montreal, QC, Canada (ROR: https://ror.org/01gv74p78) (GRID: grid.411418.9) (ISNI: 0000 0001 2173 6322) 
700 1 |a Vitaro, Frank  |u Ste-Justine Hospital Research Center, Montreal, Montreal, QC, Canada (ROR: https://ror.org/01gv74p78) (GRID: grid.411418.9) (ISNI: 0000 0001 2173 6322); School of Psychoeducation, University of Montreal, Montreal, QC, Canada (ROR: https://ror.org/0161xgx34) (GRID: grid.14848.31) (ISNI: 0000 0001 2104 2136) 
700 1 |a Robaey, Philippe  |u Department of Psychiatry, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada (ROR: https://ror.org/03c4mmv16) (GRID: grid.28046.38) (ISNI: 0000 0001 2182 2255) 
700 1 |a Andlauer, Till F. M.  |u Department of Neurology, Technical University of Munich, Munich, Germany (ROR: https://ror.org/02kkvpp62) (GRID: grid.6936.a) (ISNI: 0000 0001 2322 2966) 
700 1 |a Boivin, Michel  |u School of Psychology, Université Laval, Québec city, QC, Canada (ROR: https://ror.org/04sjchr03) (GRID: grid.23856.3a) (ISNI: 0000 0004 1936 8390); Institute of Genetic, Neurobiological and Social Foundations of Child Development, Tomsk State University, Tomsk, Russia (ROR: https://ror.org/02he2nc27) (GRID: grid.77602.34) (ISNI: 0000 0001 1088 3909) 
700 1 |a Dionne, Ginette  |u School of Psychology, Université Laval, Québec city, QC, Canada (ROR: https://ror.org/04sjchr03) (GRID: grid.23856.3a) (ISNI: 0000 0004 1936 8390) 
773 0 |t NPJ Science of Learning  |g vol. 10, no. 1 (2025), p. 56-66 
786 0 |d ProQuest  |t Health & Medical Collection 
856 4 1 |3 Citation/Abstract  |u https://www.proquest.com/docview/3241071876/abstract/embedded/L8HZQI7Z43R0LA5T?source=fedsrch 
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856 4 0 |3 Full Text - PDF  |u https://www.proquest.com/docview/3241071876/fulltextPDF/embedded/L8HZQI7Z43R0LA5T?source=fedsrch