FOXP3 gene variations and susceptibility to autism: A case–control study
Autism Spectrum Disorders (ASD) are a group of heterogeneous neurodevelopmental disorders associated with immune system dysregulation. There are supporting evidences for the role of Forkhead Box P3 (FOXP3) gene as a lineage specification factor of regulatory T cells in the pathogenesis of ASD. The a...
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| Veröffentlicht in: | Gene 2017-01, Vol.596, p.119-122 |
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| container_title | Gene |
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| creator | Safari, Mohammad Reza Ghafouri-Fard, Soudeh Noroozi, Rezvan Sayad, Arezou Omrani, Mir Davood Komaki, Alireza Eftekharian, Mohammad Mahdi Taheri, Mohammad |
| description | Autism Spectrum Disorders (ASD) are a group of heterogeneous neurodevelopmental disorders associated with immune system dysregulation. There are supporting evidences for the role of Forkhead Box P3 (FOXP3) gene as a lineage specification factor of regulatory T cells in the pathogenesis of ASD. The aim of this study was to explore possible relationship between genetic variants rs2232365 and rs3761548 of FOXP3 and ASD in 523 ASD patients versus 472 control individuals. Allele frequency analyses showed significant overpresentation of rs2232365-G allele in cases versus controls. In addition, rs2232365 GG genotype was associated with ASD in dominant inheritance model. Haplotype analysis revealed no significant association of any estimated block of rs2232365/rs3761548 with ASD. Our study indicated that rs2232365 is associated with ASD.
•We studied possible relationship between genetic variants rs2232365 and rs3761548 of FOXP3 and ASD.•We showed significant overpresentation of rs2232365-G allele in cases versus controls.•The rs2232365 GG genotype was associated with ASD in dominant inheritance model.•Haplotype analysis revealed no significant association of any estimated block of rs2232365/rs3761548 with ASD. |
| doi_str_mv | 10.1016/j.gene.2016.10.019 |
| format | Article |
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•We studied possible relationship between genetic variants rs2232365 and rs3761548 of FOXP3 and ASD.•We showed significant overpresentation of rs2232365-G allele in cases versus controls.•The rs2232365 GG genotype was associated with ASD in dominant inheritance model.•Haplotype analysis revealed no significant association of any estimated block of rs2232365/rs3761548 with ASD.</description><identifier>ISSN: 0378-1119</identifier><identifier>EISSN: 1879-0038</identifier><identifier>DOI: 10.1016/j.gene.2016.10.019</identifier><identifier>PMID: 27751813</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>Adolescent ; Autism Spectrum Disorders ; Autistic Disorder - genetics ; Case-Control Studies ; Child ; Female ; Forkhead Transcription Factors - genetics ; FOXP3 ; Genes, Dominant ; Genetic Predisposition to Disease ; Haplotypes ; Humans ; Immunity ; Iran ; Linkage Disequilibrium ; Male ; Polymorphism ; Polymorphism, Single Nucleotide</subject><ispartof>Gene, 2017-01, Vol.596, p.119-122</ispartof><rights>2016 Elsevier B.V.</rights><rights>Copyright © 2016 Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c389t-49b24c320a3a295b9312702fbde25823c090e32936fbab16081438c334b070163</citedby><cites>FETCH-LOGICAL-c389t-49b24c320a3a295b9312702fbde25823c090e32936fbab16081438c334b070163</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.gene.2016.10.019$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27751813$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Safari, Mohammad Reza</creatorcontrib><creatorcontrib>Ghafouri-Fard, Soudeh</creatorcontrib><creatorcontrib>Noroozi, Rezvan</creatorcontrib><creatorcontrib>Sayad, Arezou</creatorcontrib><creatorcontrib>Omrani, Mir Davood</creatorcontrib><creatorcontrib>Komaki, Alireza</creatorcontrib><creatorcontrib>Eftekharian, Mohammad Mahdi</creatorcontrib><creatorcontrib>Taheri, Mohammad</creatorcontrib><title>FOXP3 gene variations and susceptibility to autism: A case–control study</title><title>Gene</title><addtitle>Gene</addtitle><description>Autism Spectrum Disorders (ASD) are a group of heterogeneous neurodevelopmental disorders associated with immune system dysregulation. There are supporting evidences for the role of Forkhead Box P3 (FOXP3) gene as a lineage specification factor of regulatory T cells in the pathogenesis of ASD. The aim of this study was to explore possible relationship between genetic variants rs2232365 and rs3761548 of FOXP3 and ASD in 523 ASD patients versus 472 control individuals. Allele frequency analyses showed significant overpresentation of rs2232365-G allele in cases versus controls. In addition, rs2232365 GG genotype was associated with ASD in dominant inheritance model. Haplotype analysis revealed no significant association of any estimated block of rs2232365/rs3761548 with ASD. Our study indicated that rs2232365 is associated with ASD.
•We studied possible relationship between genetic variants rs2232365 and rs3761548 of FOXP3 and ASD.•We showed significant overpresentation of rs2232365-G allele in cases versus controls.•The rs2232365 GG genotype was associated with ASD in dominant inheritance model.•Haplotype analysis revealed no significant association of any estimated block of rs2232365/rs3761548 with ASD.</description><subject>Adolescent</subject><subject>Autism Spectrum Disorders</subject><subject>Autistic Disorder - genetics</subject><subject>Case-Control Studies</subject><subject>Child</subject><subject>Female</subject><subject>Forkhead Transcription Factors - genetics</subject><subject>FOXP3</subject><subject>Genes, Dominant</subject><subject>Genetic Predisposition to Disease</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>Immunity</subject><subject>Iran</subject><subject>Linkage Disequilibrium</subject><subject>Male</subject><subject>Polymorphism</subject><subject>Polymorphism, Single Nucleotide</subject><issn>0378-1119</issn><issn>1879-0038</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkMtKAzEUhoMotlZfwIVk6WbGXOaSiJtSrBcKdaHgLmQyGUmZS00yhe58B9_QJzFDq0sxmxMO3_k55wPgHKMYI5xdreI33eqYhH9oxAjzAzDGLOcRQpQdgjGiOYswxnwETpxbofDSlByDEcnzFDNMx-Bxvnx9onAIghtpjfSmax2UbQld75Ree1OY2vgt9B2UvTeuuYZTqKTTXx-fqmu97WrofF9uT8FRJWunz_Z1Al7mt8-z-2ixvHuYTReRooz7KOEFSRQlSFJJeFpwikmOSFWUmqSMUIU40pRwmlWFLHCGGE4oU5QmBcrDqXQCLne5a9u999p50ZiwaV3LVne9E5glWYLyBKf_QGmapIRleUDJDlW2c87qSqytaaTdCozEoFusxGBJDLqHXtAdhi72-X3R6PJ35MdvAG52gA5CNkZb4ZTRrdKlsVp5UXbmr_xvU82POQ</recordid><startdate>20170105</startdate><enddate>20170105</enddate><creator>Safari, Mohammad Reza</creator><creator>Ghafouri-Fard, Soudeh</creator><creator>Noroozi, Rezvan</creator><creator>Sayad, Arezou</creator><creator>Omrani, Mir Davood</creator><creator>Komaki, Alireza</creator><creator>Eftekharian, Mohammad Mahdi</creator><creator>Taheri, Mohammad</creator><general>Elsevier B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>20170105</creationdate><title>FOXP3 gene variations and susceptibility to autism: A case–control study</title><author>Safari, Mohammad Reza ; Ghafouri-Fard, Soudeh ; Noroozi, Rezvan ; Sayad, Arezou ; Omrani, Mir Davood ; Komaki, Alireza ; Eftekharian, Mohammad Mahdi ; Taheri, Mohammad</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c389t-49b24c320a3a295b9312702fbde25823c090e32936fbab16081438c334b070163</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Adolescent</topic><topic>Autism Spectrum Disorders</topic><topic>Autistic Disorder - genetics</topic><topic>Case-Control Studies</topic><topic>Child</topic><topic>Female</topic><topic>Forkhead Transcription Factors - genetics</topic><topic>FOXP3</topic><topic>Genes, Dominant</topic><topic>Genetic Predisposition to Disease</topic><topic>Haplotypes</topic><topic>Humans</topic><topic>Immunity</topic><topic>Iran</topic><topic>Linkage Disequilibrium</topic><topic>Male</topic><topic>Polymorphism</topic><topic>Polymorphism, Single Nucleotide</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Safari, Mohammad Reza</creatorcontrib><creatorcontrib>Ghafouri-Fard, Soudeh</creatorcontrib><creatorcontrib>Noroozi, Rezvan</creatorcontrib><creatorcontrib>Sayad, Arezou</creatorcontrib><creatorcontrib>Omrani, Mir Davood</creatorcontrib><creatorcontrib>Komaki, Alireza</creatorcontrib><creatorcontrib>Eftekharian, Mohammad Mahdi</creatorcontrib><creatorcontrib>Taheri, Mohammad</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Gene</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Safari, Mohammad Reza</au><au>Ghafouri-Fard, Soudeh</au><au>Noroozi, Rezvan</au><au>Sayad, Arezou</au><au>Omrani, Mir Davood</au><au>Komaki, Alireza</au><au>Eftekharian, Mohammad Mahdi</au><au>Taheri, Mohammad</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>FOXP3 gene variations and susceptibility to autism: A case–control study</atitle><jtitle>Gene</jtitle><addtitle>Gene</addtitle><date>2017-01-05</date><risdate>2017</risdate><volume>596</volume><spage>119</spage><epage>122</epage><pages>119-122</pages><issn>0378-1119</issn><eissn>1879-0038</eissn><abstract>Autism Spectrum Disorders (ASD) are a group of heterogeneous neurodevelopmental disorders associated with immune system dysregulation. There are supporting evidences for the role of Forkhead Box P3 (FOXP3) gene as a lineage specification factor of regulatory T cells in the pathogenesis of ASD. The aim of this study was to explore possible relationship between genetic variants rs2232365 and rs3761548 of FOXP3 and ASD in 523 ASD patients versus 472 control individuals. Allele frequency analyses showed significant overpresentation of rs2232365-G allele in cases versus controls. In addition, rs2232365 GG genotype was associated with ASD in dominant inheritance model. Haplotype analysis revealed no significant association of any estimated block of rs2232365/rs3761548 with ASD. Our study indicated that rs2232365 is associated with ASD.
•We studied possible relationship between genetic variants rs2232365 and rs3761548 of FOXP3 and ASD.•We showed significant overpresentation of rs2232365-G allele in cases versus controls.•The rs2232365 GG genotype was associated with ASD in dominant inheritance model.•Haplotype analysis revealed no significant association of any estimated block of rs2232365/rs3761548 with ASD.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>27751813</pmid><doi>10.1016/j.gene.2016.10.019</doi><tpages>4</tpages></addata></record> |
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| subjects | Adolescent Autism Spectrum Disorders Autistic Disorder - genetics Case-Control Studies Child Female Forkhead Transcription Factors - genetics FOXP3 Genes, Dominant Genetic Predisposition to Disease Haplotypes Humans Immunity Iran Linkage Disequilibrium Male Polymorphism Polymorphism, Single Nucleotide |
| title | FOXP3 gene variations and susceptibility to autism: A case–control study |
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