Dyslexia-related loci are significantly associated with language and literacy in Chinese–English bilingual Hong Kong Chinese twins
A recent genome-wide association study on dyslexia in 51,800 affected European adults and 1,087,070 controls detected 42 genome-wide significant single nucleotide variants (SNPs). The association between rs2624839 in SEMA3F and reading fluency was replicated in a Chinese cohort. This study explores...
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description | A recent genome-wide association study on dyslexia in 51,800 affected European adults and 1,087,070 controls detected 42 genome-wide significant single nucleotide variants (SNPs). The association between rs2624839 in
SEMA3F
and reading fluency was replicated in a Chinese cohort. This study explores the genetic overlap between Chinese and English word reading, vocabulary knowledge and spelling, and aims at replicating the association in a unique cohort of bilingual (Chinese–English) Hong Kong Chinese twins. Our result showed an almost complete genetic overlap in vocabulary knowledge (
r
2
= 0.995), and some genetic overlaps in word reading and spelling (
r
2
= 0.846, 0.687) across the languages. To investigate the region near rs2624839, we tested proxy SNPs (rs1005678, rs12632110 and rs12494414) at the population level (
n
= 305–308) and the within-twin level (
n
= 342–344 [171–172 twin pairs]). All the three SNPs showed significant associations with quantitative Chinese and English vocabulary knowledge (
p
|
doi_str_mv | 10.1007/s00439-023-02594-6 |
format | Article |
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SEMA3F
and reading fluency was replicated in a Chinese cohort. This study explores the genetic overlap between Chinese and English word reading, vocabulary knowledge and spelling, and aims at replicating the association in a unique cohort of bilingual (Chinese–English) Hong Kong Chinese twins. Our result showed an almost complete genetic overlap in vocabulary knowledge (
r
2
= 0.995), and some genetic overlaps in word reading and spelling (
r
2
= 0.846, 0.687) across the languages. To investigate the region near rs2624839, we tested proxy SNPs (rs1005678, rs12632110 and rs12494414) at the population level (
n
= 305–308) and the within-twin level (
n
= 342–344 [171–172 twin pairs]). All the three SNPs showed significant associations with quantitative Chinese and English vocabulary knowledge (
p
< 0.05). The strongest association after multiple testing correction was between rs12494414 and English vocabulary knowledge at the within-twin level (
p
= 0.004). There was a trend of associations with word reading and spelling in English but not in Chinese. Our result suggested that the region near rs2624839 is one of the common genetic factors across English and Chinese vocabulary knowledge and unique factors of English word reading and English spelling in bilingual Chinese twins. A larger sample size is required to validate our findings. Further studies on the relationship between variable expression of
SEMA3F
, which is important to neurodevelopment, and language and literacy are encouraged.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/s00439-023-02594-6</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Bilingualism ; Biomedical and Life Sciences ; Biomedicine ; China ; Dyslexia ; Gene Function ; Genetic factors ; Genome-wide association studies ; genome-wide association study ; Genomes ; Human Genetics ; Language ; Literacy ; Metabolic Diseases ; Molecular Medicine ; neurodevelopment ; Original Investigation ; Reading ; sample size ; Semaphorins ; Single-nucleotide polymorphism ; Spelling ; Twins</subject><ispartof>Human genetics, 2023-10, Vol.142 (10), p.1519-1529</ispartof><rights>The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2023. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c380t-487ac1bc0e5dbcefe68c286d80042f438ba2964ea5ded216bc981b1476ffbba93</cites><orcidid>0000-0002-3616-6200</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00439-023-02594-6$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00439-023-02594-6$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids></links><search><creatorcontrib>Chung, Cheuk Yan</creatorcontrib><creatorcontrib>Pan, Dora Jue</creatorcontrib><creatorcontrib>Paracchini, Silvia</creatorcontrib><creatorcontrib>Jiang, Wenxuan</creatorcontrib><creatorcontrib>So, Hon-Cheong</creatorcontrib><creatorcontrib>McBride, Catherine</creatorcontrib><creatorcontrib>Maurer, Urs</creatorcontrib><creatorcontrib>Zheng, Mo</creatorcontrib><creatorcontrib>Choy, Kwong Wai</creatorcontrib><title>Dyslexia-related loci are significantly associated with language and literacy in Chinese–English bilingual Hong Kong Chinese twins</title><title>Human genetics</title><addtitle>Hum. Genet</addtitle><description>A recent genome-wide association study on dyslexia in 51,800 affected European adults and 1,087,070 controls detected 42 genome-wide significant single nucleotide variants (SNPs). The association between rs2624839 in
SEMA3F
and reading fluency was replicated in a Chinese cohort. This study explores the genetic overlap between Chinese and English word reading, vocabulary knowledge and spelling, and aims at replicating the association in a unique cohort of bilingual (Chinese–English) Hong Kong Chinese twins. Our result showed an almost complete genetic overlap in vocabulary knowledge (
r
2
= 0.995), and some genetic overlaps in word reading and spelling (
r
2
= 0.846, 0.687) across the languages. To investigate the region near rs2624839, we tested proxy SNPs (rs1005678, rs12632110 and rs12494414) at the population level (
n
= 305–308) and the within-twin level (
n
= 342–344 [171–172 twin pairs]). All the three SNPs showed significant associations with quantitative Chinese and English vocabulary knowledge (
p
< 0.05). The strongest association after multiple testing correction was between rs12494414 and English vocabulary knowledge at the within-twin level (
p
= 0.004). There was a trend of associations with word reading and spelling in English but not in Chinese. Our result suggested that the region near rs2624839 is one of the common genetic factors across English and Chinese vocabulary knowledge and unique factors of English word reading and English spelling in bilingual Chinese twins. A larger sample size is required to validate our findings. Further studies on the relationship between variable expression of
SEMA3F
, which is important to neurodevelopment, and language and literacy are encouraged.</description><subject>Bilingualism</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>China</subject><subject>Dyslexia</subject><subject>Gene Function</subject><subject>Genetic factors</subject><subject>Genome-wide association studies</subject><subject>genome-wide association study</subject><subject>Genomes</subject><subject>Human Genetics</subject><subject>Language</subject><subject>Literacy</subject><subject>Metabolic Diseases</subject><subject>Molecular Medicine</subject><subject>neurodevelopment</subject><subject>Original Investigation</subject><subject>Reading</subject><subject>sample size</subject><subject>Semaphorins</subject><subject>Single-nucleotide polymorphism</subject><subject>Spelling</subject><subject>Twins</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>BENPR</sourceid><recordid>eNqFkbtu3DAQRYnAAbJ-_IArAmnSKOFLFFUG61dgA2mcmqCokZYGTTkcLeztXPgP8of5knC9Bgy4cIqZKebcGVxcQo45-8oZa74hY0q2FROyVN2qSn8gC66kqLhgco8smFSs0g1vPpF9xBvGeN2KekGeTjYY4SG4KkN0M_Q0Tj5Ql4FiGFMYgndpjhvqEMvimbgP84pGl8a1G4G6VDRhhuz8hoZEl6uQAOHv45_TNMaAK9qFGLZwpBdTGunltr1QdL4PCQ_Jx8FFhKOXeUB-nZ1eLy-qq5_nP5bfryovDZsrZRrneecZ1H3nYQBtvDC6N8W8GJQ0nROtVuDqHnrBdedbwzuuGj0MXedaeUC-7O7e5en3GnC2twE9xOIFpjVayWvJdWNq9l-0_OWSKS1NQT-_QW-mdU7FyJbSWijRyEKJHeXzhJhhsHc53Lq8sZzZbYZ2l6EtGdrnDK0uIrkTYYHTCPn19Duqf3Wmoc8</recordid><startdate>20231001</startdate><enddate>20231001</enddate><creator>Chung, Cheuk Yan</creator><creator>Pan, Dora Jue</creator><creator>Paracchini, Silvia</creator><creator>Jiang, Wenxuan</creator><creator>So, Hon-Cheong</creator><creator>McBride, Catherine</creator><creator>Maurer, Urs</creator><creator>Zheng, Mo</creator><creator>Choy, Kwong Wai</creator><general>Springer Berlin Heidelberg</general><general>Springer Nature B.V</general><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QP</scope><scope>7TK</scope><scope>7TM</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PHGZM</scope><scope>PHGZT</scope><scope>PJZUB</scope><scope>PKEHL</scope><scope>PPXIY</scope><scope>PQEST</scope><scope>PQGLB</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>RC3</scope><scope>7X8</scope><scope>7S9</scope><scope>L.6</scope><orcidid>https://orcid.org/0000-0002-3616-6200</orcidid></search><sort><creationdate>20231001</creationdate><title>Dyslexia-related loci are significantly associated with language and literacy in Chinese–English bilingual Hong Kong Chinese twins</title><author>Chung, Cheuk Yan ; 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Genet</stitle><date>2023-10-01</date><risdate>2023</risdate><volume>142</volume><issue>10</issue><spage>1519</spage><epage>1529</epage><pages>1519-1529</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><abstract>A recent genome-wide association study on dyslexia in 51,800 affected European adults and 1,087,070 controls detected 42 genome-wide significant single nucleotide variants (SNPs). The association between rs2624839 in
SEMA3F
and reading fluency was replicated in a Chinese cohort. This study explores the genetic overlap between Chinese and English word reading, vocabulary knowledge and spelling, and aims at replicating the association in a unique cohort of bilingual (Chinese–English) Hong Kong Chinese twins. Our result showed an almost complete genetic overlap in vocabulary knowledge (
r
2
= 0.995), and some genetic overlaps in word reading and spelling (
r
2
= 0.846, 0.687) across the languages. To investigate the region near rs2624839, we tested proxy SNPs (rs1005678, rs12632110 and rs12494414) at the population level (
n
= 305–308) and the within-twin level (
n
= 342–344 [171–172 twin pairs]). All the three SNPs showed significant associations with quantitative Chinese and English vocabulary knowledge (
p
< 0.05). The strongest association after multiple testing correction was between rs12494414 and English vocabulary knowledge at the within-twin level (
p
= 0.004). There was a trend of associations with word reading and spelling in English but not in Chinese. Our result suggested that the region near rs2624839 is one of the common genetic factors across English and Chinese vocabulary knowledge and unique factors of English word reading and English spelling in bilingual Chinese twins. A larger sample size is required to validate our findings. Further studies on the relationship between variable expression of
SEMA3F
, which is important to neurodevelopment, and language and literacy are encouraged.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><doi>10.1007/s00439-023-02594-6</doi><tpages>11</tpages><orcidid>https://orcid.org/0000-0002-3616-6200</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | Bilingualism Biomedical and Life Sciences Biomedicine China Dyslexia Gene Function Genetic factors Genome-wide association studies genome-wide association study Genomes Human Genetics Language Literacy Metabolic Diseases Molecular Medicine neurodevelopment Original Investigation Reading sample size Semaphorins Single-nucleotide polymorphism Spelling Twins |
title | Dyslexia-related loci are significantly associated with language and literacy in Chinese–English bilingual Hong Kong Chinese twins |
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