Eising, Else, Mirza-Schreiber, Nazanin, de Zeeuw, Eveline L., Wang, Carol A., Truong, Dongnhu T., Allegrini, Andrea G., Shapland, Chin Yang, Zhu, Gu, Wigg, Karen G., Gerritse, Margot L., Molz, Barbara, Alagöz, Gökberk, Gialluisi, Alessandro, Abbondanza, Filippo, Rimfeld, Kaili, van Donkelaar, Marjolein, Liao, Zhijie, Jansen, Philip R., Andlauer, Till F.M., Bates, Timothy C., Bernard, Manon, Blokland, Kirsten, Bonte, Milene, Børglum, Anders D., Bourgeron, Thomas, Brandeis, Daniel, Ceroni, Fabiola, Csépe, Valéria, Dale, Philip S., de Jong, Peter F., DeFries, John C., Démonet, Jean François, Demontis, Ditte, Feng, Yu, Gordon, Scott D., Guger, Sharon L., Hayiou-Thomas, Marianna E., Hernández-Cabrera, Juan A., Hottenga, Jouke Jan, Hulme, Charles, Kere, Juha, Kerr, Elizabeth N., Koomar, Tanner, Landerl, Karin, Leonard, Gabriel T., Lovett, Maureen W., Lyytinen, Heikki, Martin, Nicholas G., Martinelli, Angela, Maurer, Urs, Michaelson, Jacob J., Moll, Kristina, Monaco, Anthony P., Morgan, Angela T., Nöthen, Markus M., Pausova, Zdenka, Pennell, Craig E., Pennington, Bruce F., Price, Kaitlyn M., Rajagopal, Veera M., Ramus, Franck, Richer, Louis, Simpson, Nuala H., Smith, Shelley D., Snowling, Margaret J., Stein, John, Strug, Lisa J., Talcott, Joel B., Tiemeier, Henning, van der Schroeff, Marc P., Verhoef, Ellen, Watkins, Kate E., Wilkinson, Margaret, Wright, Margaret J., Barr, Cathy L., Boomsma, Dorret I., Carreiras, Manuel, Franken, Marie Christine J., Gruen, Jeffrey R., Luciano, Michelle, Müller-Myhsok, Bertram, Newbury, Dianne F., Olson, Richard K., Paracchini, Silvia, Paus, Tomáš, Plomin, Robert, Reilly, Sheena, Schulte-Körne, Gerd, Tomblin, J. Bruce, van Bergen, Elsje, Whitehouse, Andrew J.O., Willcutt, Erik G., St Pourcain, Beate, Francks, Clyde and Fisher, Simon E. (2022). Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people. Proceedings of the National Academy of Sciences of the United States of America, 119 (35),
Abstract
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.
| Publication DOI: | https://doi.org/10.1073/pnas.2202764119 |
|---|---|
| Divisions: | College of Health & Life Sciences > School of Psychology College of Health & Life Sciences > Aston Institute of Health & Neurodevelopment (AIHN) College of Health & Life Sciences > Clinical and Systems Neuroscience College of Health & Life Sciences College of Health & Life Sciences > School of Optometry > Vision, Hearing and Language |
| Additional Information: | Copyright © 2022 the Author(s). Published by PNAS. This open access article is distributed under Creative Commons Attribution License 4.0 (CC BY). |
| Uncontrolled Keywords: | genome-wide association study,language,meta-analysis,reading,General |
| Publication ISSN: | 1091-6490 |
| Last Modified: | 24 Apr 2024 07:24 |
| Date Deposited: | 21 Sep 2022 15:15 |
| Full Text Link: | |
| Related URLs: |
http://www.scop ... tnerID=8YFLogxK
(Scopus URL) https://www.pna ... pnas.2202764119 (Publisher URL) |
PURE Output Type: | Article |
| Published Date: | 2022-08-23 |
| Accepted Date: | 2022-05-31 |
| Authors: |
Eising, Else
Mirza-Schreiber, Nazanin de Zeeuw, Eveline L. Wang, Carol A. Truong, Dongnhu T. Allegrini, Andrea G. Shapland, Chin Yang Zhu, Gu Wigg, Karen G. Gerritse, Margot L. Molz, Barbara Alagöz, Gökberk Gialluisi, Alessandro Abbondanza, Filippo Rimfeld, Kaili van Donkelaar, Marjolein Liao, Zhijie Jansen, Philip R. Andlauer, Till F.M. Bates, Timothy C. Bernard, Manon Blokland, Kirsten Bonte, Milene Børglum, Anders D. Bourgeron, Thomas Brandeis, Daniel Ceroni, Fabiola Csépe, Valéria Dale, Philip S. de Jong, Peter F. DeFries, John C. Démonet, Jean François Demontis, Ditte Feng, Yu Gordon, Scott D. Guger, Sharon L. Hayiou-Thomas, Marianna E. Hernández-Cabrera, Juan A. Hottenga, Jouke Jan Hulme, Charles Kere, Juha Kerr, Elizabeth N. Koomar, Tanner Landerl, Karin Leonard, Gabriel T. Lovett, Maureen W. Lyytinen, Heikki Martin, Nicholas G. Martinelli, Angela Maurer, Urs Michaelson, Jacob J. Moll, Kristina Monaco, Anthony P. Morgan, Angela T. Nöthen, Markus M. Pausova, Zdenka Pennell, Craig E. Pennington, Bruce F. Price, Kaitlyn M. Rajagopal, Veera M. Ramus, Franck Richer, Louis Simpson, Nuala H. Smith, Shelley D. Snowling, Margaret J. Stein, John Strug, Lisa J. Talcott, Joel B. ( 
0000-0001-7958-8369)
Tiemeier, Henning van der Schroeff, Marc P. Verhoef, Ellen Watkins, Kate E. Wilkinson, Margaret Wright, Margaret J. Barr, Cathy L. Boomsma, Dorret I. Carreiras, Manuel Franken, Marie Christine J. Gruen, Jeffrey R. Luciano, Michelle Müller-Myhsok, Bertram Newbury, Dianne F. Olson, Richard K. Paracchini, Silvia Paus, Tomáš Plomin, Robert Reilly, Sheena Schulte-Körne, Gerd Tomblin, J. Bruce van Bergen, Elsje Whitehouse, Andrew J.O. Willcutt, Erik G. St Pourcain, Beate Francks, Clyde Fisher, Simon E. |
CORE (COnnecting REpositories)
CORE (COnnecting REpositories)