{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T03:02:05Z","timestamp":1792551725403,"version":"4.5.0"},"reference-count":58,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,2,21]],"date-time":"2020-02-21T00:00:00Z","timestamp":1582243200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["RF\u20102013\u201002358607"],"award-info":[{"award-number":["RF\u20102013\u201002358607"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002383","name":"King Saud University","doi-asserted-by":"publisher","award":["ISPP\u2010118"],"award-info":[{"award-number":["ISPP\u2010118"]}],"id":[{"id":"10.13039\/501100002383","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Autism Research"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>Vitamin D is endowed with a number of biological properties, including down\u2010regulation of inflammation, and might contribute to the pathogenesis of autism spectrum disorders (ASD). Vitamin D binds to the vitamin D Receptor (VDR); the biological activity of the ensuing complex depends on VDR <jats:italic>FokI<\/jats:italic>, <jats:italic>BsmI<\/jats:italic>, <jats:italic>ApaI<\/jats:italic>, and <jats:italic>TaqI<\/jats:italic> gene polymorphisms. We evaluated such Single Nucletoide Polymorphismsm (SNPs) in a cohort of 100 Italian families with ASD children. <jats:italic>FokI<\/jats:italic> genotype distribution was skewed in ASD children compared with their healthy sibs (<jats:italic>P<\/jats:italic><jats:sub>c<\/jats:sub> =\u20090.03 2 <jats:italic>df<\/jats:italic>) and to a group of 170 Italian healthy women (HC) (<jats:italic>P<\/jats:italic><jats:sub>c<\/jats:sub> =\u20090.04 2 <jats:italic>df<\/jats:italic>). <jats:italic>FokI<\/jats:italic> genotype and allelic distribution skewing were also observed in mothers of ASD children compared to HC (<jats:italic>P<\/jats:italic><jats:sub>c<\/jats:sub> =\u20090.04 2 <jats:italic>df<\/jats:italic>). Both Transmission Disequilibrium Test for single loci and haplotype analysis distribution revealed a major <jats:italic>FokI (C)<\/jats:italic> allele\u2010mediated protective effect, which was more frequently transmitted (73%) than not transmitted to healthy sibs (<jats:italic>P<\/jats:italic> = 0.02). A protective <jats:italic>FokI\u2010<\/jats:italic>, <jats:italic>BsmI\u2010<\/jats:italic>, <jats:italic>ApaI\u2010<\/jats:italic>, and <jats:italic>TaqI<\/jats:italic> (<jats:italic>CCAG<\/jats:italic>) haplotype was more frequently carried by healthy sibs than by ASD children (<jats:italic>P<\/jats:italic> = 1 \u00d7\u200910<jats:sup>\u22124<\/jats:sup>; OR: 0.1, 95% CI: 0.03\u20130.4) too. Finally, a strong gene\u2010dose association of <jats:italic>FokI (T)<\/jats:italic> allele with both higher Childhood Autism Rating Scale score (<jats:italic>P<\/jats:italic><jats:sub>c<\/jats:sub> =\u20090.01) and, particularly, with hyperactivity behavior (<jats:italic>P<\/jats:italic><jats:sub>c<\/jats:sub> =\u20090.006) emerged in ASD children. Because the protein produced by the <jats:italic>FokI (T)<\/jats:italic> allele is transcriptionally less active than that produced by the <jats:italic>FokI (C)<\/jats:italic> allele, the reduced biological activity of the vitamin D\/VDR complex prevalent in ASD could favor ASD\u2010 and maternal immune activation\u2010 associated inflammation. Vitamin D supplementation might be useful in preventative and rehabilitation protocols for ASD. <jats:italic><jats:bold>Autism Res<\/jats:bold> 2020, 13: 680\u2013690<\/jats:italic>. \u00a9 2020 International Society for Autism Research, Wiley Periodicals, Inc.<\/jats:p><\/jats:sec><jats:sec><jats:title>Lay Summary<\/jats:title><jats:p>Vitamin D deficiency and Vitamin D receptor (VDR) polymorphisms are associated with structural and functional brain abnormalities and behavioral disorders. We analyzed the association of VDR gene polymorphisms in a cohort of 100 Italian families with ASD children. A strong correlation between one of the VDR polymorphisms and hyperactivity behavior was evidenced in ASD children. In healthy mothers, the same VDR polymorphism was also correlated with an increased risk of giving birth to children with ASD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/aur.2279","type":"journal-article","created":{"date-parts":[[2020,2,21]],"date-time":"2020-02-21T13:24:54Z","timestamp":1582291494000},"page":"680-690","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["Vitamin D Receptor Polymorphisms Associated with Autism Spectrum Disorder"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9461-5927","authenticated-orcid":false,"given":"Franca Rosa","family":"Guerini","sequence":"first","affiliation":[{"name":"IRCCS Fondazione Don Carlo Gnocchi  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Bolognesi","sequence":"additional","affiliation":[{"name":"IRCCS Fondazione Don Carlo Gnocchi  Milan 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