{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:28:20Z","timestamp":1791325700055,"version":"4.3.1"},"reference-count":81,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2022,12,3]],"date-time":"2022-12-03T00:00:00Z","timestamp":1670025600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of Health","award":["Ricerca Corrente 2021"],"award-info":[{"award-number":["Ricerca Corrente 2021"]}]},{"name":"Fondazione Alessandro and Vincenzo Negroni and Fondazione Romeo and Enrica Invernizzi","award":["Ricerca Corrente 2021"],"award-info":[{"award-number":["Ricerca Corrente 2021"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nutrients"],"abstract":"<jats:p>Autism spectrum disorders (ASD) are characterized by a wide spectrum of clinical, behavioral, and cognitive manifestations. It is, therefore, crucial to investigate possible biomarkers associated with specific ASD phenotypes. Ample literature suggests a possible role for vitamin D (VD) in influencing ASD clinical phenotypes. We analyzed three vitamin D binding protein gene (DBP) functional polymorphisms (rs2282679, rs7041, and rs4588), which are involved in the modulation of vitamin D serum concentration in 309 ASD children and 831 healthy controls. Frequency comparisons of single nucleotide polymorphisms (SNPs) alleles, genotypes, and GC isoforms (GC1f, G1s, and GC2)\u2014generated by the combination of rs7041 and rs4588 alleles\u2014were correlated with ASD diagnostic, behavioral, and functioning scales. The GC1f isoform was significantly more frequent in ASD compared with controls (18.6% vs. 14.5% pc = 0.02). Significantly higher scores for item 15 of the Childhood Autism Rating Scale (CARS) and lower ones for the Children\u2019s Global Assessment Scale (CGAS) functioning scales were seen in ASD carrying the GC1f isoform. In GC phenotype analysis, a gradient of severity for overall CARS scores and CARS item 15 was observed, with scores decreasing according to the presence of GC1f-GC1f &gt; GC1f-GC1s &gt; GC1s-GC1s &gt; GC1f-GC2 &gt; GC2-GC2 isoforms. Similarly, lower CGAS scores were seen in carriers of the GC1f-GC1f isoform, whereas higher scores were present in those carrying GC2-GC2 (p = 0.028). This is the first study to evaluate possible relationships between GC variants and the different aspects of ASD in Italian ASD children. Results, although needing to be validated in ampler cohorts, suggest that the GC1f isoform could be a marker of severity in ASD that may be useful in establishing the intensity of therapeutic and rehabilitative protocols.<\/jats:p>","DOI":"10.3390\/nu14235153","type":"journal-article","created":{"date-parts":[[2022,12,5]],"date-time":"2022-12-05T04:40:09Z","timestamp":1670215209000},"page":"5153","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["GC1f Vitamin D Binding Protein Isoform as a Marker of Severity in Autism Spectrum Disorders"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5554-1697","authenticated-orcid":false,"given":"Elisabetta","family":"Bolognesi","sequence":"first","affiliation":[{"name":"IRCCS Fondazione Don Carlo Gnocchi ONLUS, 20148 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9461-5927","authenticated-orcid":false,"given":"Franca Rosa","family":"Guerini","sequence":"additional","affiliation":[{"name":"IRCCS Fondazione Don Carlo Gnocchi ONLUS, 20148 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Sotgiu","sequence":"additional","affiliation":[{"name":"Unit of Child Neuropsychiatry, Department of Medicine, Surgery and Pharmacy, University of Sassari, 07100 Sassari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2682-5006","authenticated-orcid":false,"given":"Matteo","family":"Chiappedi","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Carta","sequence":"additional","affiliation":[{"name":"Unit of Child Neuropsychiatry, Department of Medicine, Surgery and Pharmacy, University of Sassari, 07100 Sassari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9583-0554","authenticated-orcid":false,"given":"Martina Maria","family":"Mensi","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2022-3386","authenticated-orcid":false,"given":"Cristina","family":"Agliardi","sequence":"additional","affiliation":[{"name":"IRCCS Fondazione Don Carlo Gnocchi ONLUS, 20148 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milena","family":"Zanzottera","sequence":"additional","affiliation":[{"name":"IRCCS Fondazione Don Carlo Gnocchi ONLUS, 20148 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5920-6191","authenticated-orcid":false,"given":"Mario","family":"Clerici","sequence":"additional","affiliation":[{"name":"IRCCS Fondazione Don Carlo Gnocchi ONLUS, 20148 Milan, Italy"},{"name":"Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"American Psychiatric Association (2013). 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