{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T14:21:47Z","timestamp":1791814907937,"version":"4.3.4"},"reference-count":40,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T00:00:00Z","timestamp":1726099200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of Health: Ricerca Corrente 2023","award":["RC2023"],"award-info":[{"award-number":["RC2023"]}]},{"name":"Italian Ministry of Health: Ricerca Corrente 2023","award":["2024_EREN-SIBS"],"award-info":[{"award-number":["2024_EREN-SIBS"]}]},{"name":"Fondazione Don Gnocchi, Autofin","award":["RC2023"],"award-info":[{"award-number":["RC2023"]}]},{"name":"Fondazione Don Gnocchi, Autofin","award":["2024_EREN-SIBS"],"award-info":[{"award-number":["2024_EREN-SIBS"]}]},{"name":"Fondazione Romeo and Enrica Invernizzi","award":["RC2023"],"award-info":[{"award-number":["RC2023"]}]},{"name":"Fondazione Romeo and Enrica Invernizzi","award":["2024_EREN-SIBS"],"award-info":[{"award-number":["2024_EREN-SIBS"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Autism Spectrum disorders (ASD) are diagnosed more often in males than in females, by a ratio of about 3:1; this is likely to be due to a difference in risk burden between the sexes and\/or to \u201ccompensatory skills\u201d in females, that may delay the diagnosis of ASD. Identifying specific risk factors for ASD in females may be important in facilitating early diagnosis. We investigated whether HLA- class I: -A, -B, -C and class II -DRB1 alleles, which have been suggested to play a role in the development of ASD, can be considered as sex-related risk\/protective markers towards the ASD. We performed HLA allele genotyping in 178 Italian children with ASD, 94 healthy siblings, and their parents. HLA allele distribution was compared between children with ASD, sex-matched healthy siblings, and a cohort of healthy controls (HC) enrolled in the Italian bone marrow donor registry. Allele transmission from parents to children with ASD and their siblings was also assessed. Our findings suggest that HLA-A*02, B*38, and C*12 alleles are more frequently carried by females with ASD compared to both HC and healthy female siblings, indicating these alleles as potential risk factors for ASD in females. Conversely, the HLA-A*03 allele was more commonly transmitted to healthy female siblings, suggesting it might have a protective effect. Additionally, the HLA-B*44 allele was found to be more prevalent in boys with ASD, indicating it is a potential risk factor for male patients. This is the first Italian study of sex-related HLA association with ASD. If confirmed, these results could facilitate early ASD diagnosis in female patients, allowing earlier interventions, which are crucial in the management of neurodevelopmental disorders.<\/jats:p>","DOI":"10.3390\/ijms25189879","type":"journal-article","created":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T11:04:33Z","timestamp":1726139073000},"page":"9879","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["HLA-A, -B, -C and -DRB1 Association with Autism Spectrum Disorder Risk: A Sex-Related Analysis in Italian ASD Children and Their Siblings"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9461-5927","authenticated-orcid":false,"given":"Franca Rosa","family":"Guerini","sequence":"first","affiliation":[{"name":"Laboratory of Molecular Medicine and Biotechnologies, IRCCS Fondazione Don Carlo Gnocchi, Via Capecelatro 66, 20148 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5554-1697","authenticated-orcid":false,"given":"Elisabetta","family":"Bolognesi","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Medicine and Biotechnologies, IRCCS Fondazione Don Carlo Gnocchi, Via Capecelatro 66, 20148 Milan, 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":"Department of Brain and Behavioural Sciences, University of Pavia, 27100 Pavia, Italy"},{"name":"IRCCS Fondazione Mondino, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Zanette","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Medicine and Biotechnologies, IRCCS Fondazione Don Carlo Gnocchi, Via Capecelatro 66, 20148 Milan, 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":"Laboratory of Molecular Medicine and Biotechnologies, IRCCS Fondazione Don Carlo Gnocchi, Via Capecelatro 66, 20148 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milena","family":"Zanzottera","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Medicine and Biotechnologies, IRCCS Fondazione Don Carlo Gnocchi, Via Capecelatro 66, 20148 Milan, 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 Neurology and Psychiatry Unit, ASST Pavia, 27029 Vigevano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0213-9810","authenticated-orcid":false,"given":"Silvia","family":"Annunziata","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Medicine and Biotechnologies, IRCCS Fondazione Don Carlo Gnocchi, Via Capecelatro 66, 20148 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Garc\u00eda-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Computational Biomedicine Laboratory, Principe Felipe Research Center (CIPF), C\/Eduardo Primo Y\u00fafera 3, 46012 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7727-4040","authenticated-orcid":false,"given":"Anna","family":"Cavallini","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Medicine and Biotechnologies, IRCCS Fondazione Don Carlo Gnocchi, Via Capecelatro 66, 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":"Laboratory of Molecular Medicine and Biotechnologies, IRCCS Fondazione Don Carlo Gnocchi, Via Capecelatro 66, 20148 Milan, Italy"},{"name":"Pathophysiology and Transplantation Department, University of Milan, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,9,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"American Psychiatry Association [APA] (2022). 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