{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T01:49:38Z","timestamp":1771379378186,"version":"3.50.1"},"reference-count":56,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,4,24]],"date-time":"2017-04-24T00:00:00Z","timestamp":1492992000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Language\u2010based Learning Disabilities (LLDs) encompass a group of complex, comorbid, and developmentally associated deficits in communication. Language impairment and developmental dyslexia (DD) represent the most recognized forms of LLDs. Substantial genetic correlations exist between language and reading (dis)abilities. Common variants in the <jats:italic>FOXP2<\/jats:italic> gene were consistently associated with language\u2010 and reading\u2010related neuropsychological and neuroanatomical phenotypes. We tested the effect of a <jats:italic>FOXP2<\/jats:italic> common variant, that is, rs6980093 (A\/G), on quantitative measures of language and reading in two independent Italian samples: a population\u2010based cohort of 699 subjects (3\u201311 years old) and a sample of 572 children with DD (6\u201318 years old). rs6980093 modulates expressive language in the general population sample, with an effect on fluency scores. In the DD sample, the variant showed an association with the accuracy in the single word reading task. rs6980093 shows distinct genetic models of association in the two cohorts, with a dominant effect of the G allele in the general population sample and heterozygote advantage in the DD cohort. We provide preliminary evidence that rs6980093 associates with language and reading (dis)abilities in two independent Italian cohorts. rs6980093 is an intronic SNP, suggesting that it (or a linked variant) modulates phenotypic association via regulation of <jats:italic>FOXP2<\/jats:italic> expression. Because <jats:italic>FOXP2<\/jats:italic> brain expression is finely regulated, both temporally and spatially, it is possible that the two alleles at rs6980093 differentially modulate expression levels in a developmental stage\u2010 or brain area\u2010specific manner. This might help explaining the heterozygote advantage effect and the different genetic models in the two cohorts.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.b.32546","type":"journal-article","created":{"date-parts":[[2017,4,24]],"date-time":"2017-04-24T07:28:22Z","timestamp":1493018902000},"page":"578-586","source":"Crossref","is-referenced-by-count":25,"title":["A common genetic variant in <i>FOXP2<\/i> is associated with language\u2010based learning (dis)abilities: Evidence from two Italian independent samples"],"prefix":"10.1002","volume":"174","author":[{"given":"Alessandra","family":"Mozzi","sequence":"first","affiliation":[{"name":"Bioinformatics Scientific Institute IRCCS Eugenio Medea Bosisio Parini Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Riva","sequence":"additional","affiliation":[{"name":"Scientific Institute, IRCCS Eugenio Medea Child Psychopathology Unit Bosisio Parini Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diego","family":"Forni","sequence":"additional","affiliation":[{"name":"Bioinformatics Scientific Institute IRCCS Eugenio Medea Bosisio Parini Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Sironi","sequence":"additional","affiliation":[{"name":"Bioinformatics Scientific Institute IRCCS Eugenio Medea Bosisio Parini Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecilia","family":"Marino","sequence":"additional","affiliation":[{"name":"Scientific Institute, IRCCS Eugenio Medea Child Psychopathology Unit Bosisio Parini Italy"},{"name":"Centre for Addiction and Mental Health University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo","family":"Molteni","sequence":"additional","affiliation":[{"name":"Scientific Institute, IRCCS Eugenio Medea Child Psychopathology Unit Bosisio Parini Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefania","family":"Riva","sequence":"additional","affiliation":[{"name":"Bioinformatics Scientific Institute IRCCS Eugenio Medea Bosisio Parini Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franca R.","family":"Guerini","sequence":"additional","affiliation":[{"name":"Don C. 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