A genome-wide association study of Chinese and English language phenotypes in Hong Kong Chinese children
Abstract Dyslexia and developmental language disorders are important learning difficulties. However, their genetic basis remains poorly understood, and most genetic studies were performed on Europeans. There is a lack of genome-wide association studies (GWAS) on literacy phenotypes of Chinese as a n...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2024-03-01
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| Series: | npj Science of Learning |
| Online Access: | https://doi.org/10.1038/s41539-024-00229-7 |
| _version_ | 1827301360968663040 |
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| author | Yu-Ping Lin Yujia Shi Ruoyu Zhang Xiao Xue Shitao Rao Liangying Yin Kelvin Fai Hong Lui Dora Jue PAN Urs Maurer Kwong-Wai Choy Silvia Paracchini Catherine McBride Hon-Cheong So |
| author_facet | Yu-Ping Lin Yujia Shi Ruoyu Zhang Xiao Xue Shitao Rao Liangying Yin Kelvin Fai Hong Lui Dora Jue PAN Urs Maurer Kwong-Wai Choy Silvia Paracchini Catherine McBride Hon-Cheong So |
| author_sort | Yu-Ping Lin |
| collection | DOAJ |
| description | Abstract Dyslexia and developmental language disorders are important learning difficulties. However, their genetic basis remains poorly understood, and most genetic studies were performed on Europeans. There is a lack of genome-wide association studies (GWAS) on literacy phenotypes of Chinese as a native language and English as a second language (ESL) in a Chinese population. In this study, we conducted GWAS on 34 reading/language-related phenotypes in Hong Kong Chinese bilingual children (including both twins and singletons; total N = 1046). We performed association tests at the single-variant, gene, and pathway levels. In addition, we tested genetic overlap of these phenotypes with other neuropsychiatric disorders, as well as cognitive performance (CP) and educational attainment (EA) using polygenic risk score (PRS) analysis. Totally 5 independent loci (LD-clumped at r2 = 0.01; MAF > 0.05) reached genome-wide significance (p < 5e-08; filtered by imputation quality metric Rsq>0.3 and having at least 2 correlated SNPs (r2 > 0.5) with p < 1e-3). The loci were associated with a range of language/literacy traits such as Chinese vocabulary, character and word reading, and rapid digit naming, as well as English lexical decision. Several SNPs from these loci mapped to genes that were reported to be associated with EA and other neuropsychiatric phenotypes, such as MANEA and PLXNC1. In PRS analysis, EA and CP showed the most consistent and significant polygenic overlap with a variety of language traits, especially English literacy skills. To summarize, this study revealed the genetic basis of Chinese and English abilities in a group of Chinese bilingual children. Further studies are warranted to replicate the findings. |
| first_indexed | 2024-04-24T16:21:50Z |
| format | Article |
| id | doaj.art-f5337c8aea734bbeb6b1bf72e436f00b |
| institution | Directory Open Access Journal |
| issn | 2056-7936 |
| language | English |
| last_indexed | 2024-04-24T16:21:50Z |
| publishDate | 2024-03-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | npj Science of Learning |
| spelling | doaj.art-f5337c8aea734bbeb6b1bf72e436f00b2024-03-31T11:10:57ZengNature Portfolionpj Science of Learning2056-79362024-03-019111810.1038/s41539-024-00229-7A genome-wide association study of Chinese and English language phenotypes in Hong Kong Chinese childrenYu-Ping Lin0Yujia Shi1Ruoyu Zhang2Xiao Xue3Shitao Rao4Liangying Yin5Kelvin Fai Hong Lui6Dora Jue PAN7Urs Maurer8Kwong-Wai Choy9Silvia Paracchini10Catherine McBride11Hon-Cheong So12School of Biomedical Sciences, The Chinese University of Hong KongSchool of Biomedical Sciences, The Chinese University of Hong KongSchool of Biomedical Sciences, The Chinese University of Hong KongSchool of Biomedical Sciences, The Chinese University of Hong KongSchool of Biomedical Sciences, The Chinese University of Hong KongSchool of Biomedical Sciences, The Chinese University of Hong KongDepartment of Psychology, Lingnan UniversitySchool of Humanities and Social Science, The Chinese University of Hong Kong (Shenzhen)Department of Psychology, The Chinese University of Hong KongDepartment of Obstetrics and Gynecology, The Chinese University of Hong KongSchool of Medicine, University of St AndrewsDepartment of Human Development and Family Science, Purdue UniversitySchool of Biomedical Sciences, The Chinese University of Hong KongAbstract Dyslexia and developmental language disorders are important learning difficulties. However, their genetic basis remains poorly understood, and most genetic studies were performed on Europeans. There is a lack of genome-wide association studies (GWAS) on literacy phenotypes of Chinese as a native language and English as a second language (ESL) in a Chinese population. In this study, we conducted GWAS on 34 reading/language-related phenotypes in Hong Kong Chinese bilingual children (including both twins and singletons; total N = 1046). We performed association tests at the single-variant, gene, and pathway levels. In addition, we tested genetic overlap of these phenotypes with other neuropsychiatric disorders, as well as cognitive performance (CP) and educational attainment (EA) using polygenic risk score (PRS) analysis. Totally 5 independent loci (LD-clumped at r2 = 0.01; MAF > 0.05) reached genome-wide significance (p < 5e-08; filtered by imputation quality metric Rsq>0.3 and having at least 2 correlated SNPs (r2 > 0.5) with p < 1e-3). The loci were associated with a range of language/literacy traits such as Chinese vocabulary, character and word reading, and rapid digit naming, as well as English lexical decision. Several SNPs from these loci mapped to genes that were reported to be associated with EA and other neuropsychiatric phenotypes, such as MANEA and PLXNC1. In PRS analysis, EA and CP showed the most consistent and significant polygenic overlap with a variety of language traits, especially English literacy skills. To summarize, this study revealed the genetic basis of Chinese and English abilities in a group of Chinese bilingual children. Further studies are warranted to replicate the findings.https://doi.org/10.1038/s41539-024-00229-7 |
| spellingShingle | Yu-Ping Lin Yujia Shi Ruoyu Zhang Xiao Xue Shitao Rao Liangying Yin Kelvin Fai Hong Lui Dora Jue PAN Urs Maurer Kwong-Wai Choy Silvia Paracchini Catherine McBride Hon-Cheong So A genome-wide association study of Chinese and English language phenotypes in Hong Kong Chinese children npj Science of Learning |
| title | A genome-wide association study of Chinese and English language phenotypes in Hong Kong Chinese children |
| title_full | A genome-wide association study of Chinese and English language phenotypes in Hong Kong Chinese children |
| title_fullStr | A genome-wide association study of Chinese and English language phenotypes in Hong Kong Chinese children |
| title_full_unstemmed | A genome-wide association study of Chinese and English language phenotypes in Hong Kong Chinese children |
| title_short | A genome-wide association study of Chinese and English language phenotypes in Hong Kong Chinese children |
| title_sort | genome wide association study of chinese and english language phenotypes in hong kong chinese children |
| url | https://doi.org/10.1038/s41539-024-00229-7 |
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