{"title":"Vitamin D receptor gene polymorphisms and the risk of autism spectrum disorder (ASD): A meta-analysis","authors":"Ghasem Fakourizad , Alireza Hatami , Saeed Aslani , Mohammad Masoud Eslami , Danyal Imani , Bahman Razi , Tannaz Jamialahmadi , Prashant Kesharwani , Amirhossein Sahebkar","doi":"10.1016/j.humgen.2025.201517","DOIUrl":null,"url":null,"abstract":"<div><div>Several investigations have noted to the potential link between <em>Vitamin D Receptor</em> (<em>VDR</em>) gene polymorphisms and autism spectrum disorder (ASD); however, the findings have been controversial. To find a convincing answer, we performed this meta-analysis to identify a reliable understanding for plausible association of <em>VDR</em> gene SNPs and risk of ASD susceptibility. A systematic search was performed to search for relevant studies assessing the association between the Cdx (rs11568820), TaqI (rs731236), <em>Fok</em>I (rs2228570), <em>Apa</em>I (rs7975232), and <em>Bsm</em>I (rs1544410) SNPs of the <em>VDR</em> gene and susceptibility to ASD released before January 2024. Odd Ratio (OR) and 95 % CI were used to show statistical relationship between the <em>VDR</em> gene SNPs and ASD. In the final analysis 14 studies containing 2023 ASD patients and 2008 healthy individuals were included. The comprehensive analysis revealed that the TaqI variant across all genotypes, and the <em>Fok</em>I variant in recessive, allelic, and homozygote genetic models, were associated with an increased risk of ASD. According to the findings of this meta-analysis, TaqI and FokI SNPs play a role in predisposition to ASD; however, because of limitation in sample size and geographical distribution of included studies, findings should be interpreted cautiously.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201517"},"PeriodicalIF":0.9000,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Human Gene","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2773044125001433","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/11/26 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Several investigations have noted to the potential link between Vitamin D Receptor (VDR) gene polymorphisms and autism spectrum disorder (ASD); however, the findings have been controversial. To find a convincing answer, we performed this meta-analysis to identify a reliable understanding for plausible association of VDR gene SNPs and risk of ASD susceptibility. A systematic search was performed to search for relevant studies assessing the association between the Cdx (rs11568820), TaqI (rs731236), FokI (rs2228570), ApaI (rs7975232), and BsmI (rs1544410) SNPs of the VDR gene and susceptibility to ASD released before January 2024. Odd Ratio (OR) and 95 % CI were used to show statistical relationship between the VDR gene SNPs and ASD. In the final analysis 14 studies containing 2023 ASD patients and 2008 healthy individuals were included. The comprehensive analysis revealed that the TaqI variant across all genotypes, and the FokI variant in recessive, allelic, and homozygote genetic models, were associated with an increased risk of ASD. According to the findings of this meta-analysis, TaqI and FokI SNPs play a role in predisposition to ASD; however, because of limitation in sample size and geographical distribution of included studies, findings should be interpreted cautiously.