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Association of the alpha4 integrin subunit gene (ITGA4) with autism

dc.contributor.authorCorreia, C.
dc.contributor.authorCoutinho, A.M.
dc.contributor.authorAlmeida, J.
dc.contributor.authorLontro, R.
dc.contributor.authorLobo, C.
dc.contributor.authorMiguel, T.S.
dc.contributor.authorMartins, M.
dc.contributor.authorGallagher, L.
dc.contributor.authorConroy, J.
dc.contributor.authorGill, M.
dc.contributor.authorOliveira, G.
dc.contributor.authorVicente, A.M.
dc.date.accessioned2011-10-04T16:11:22Z
dc.date.available2011-10-04T16:11:22Z
dc.date.issued2009-12-05
dc.description.abstractIn the present work, we provide further evidence for the involvement of the integrin alpha-4 precursor gene (ITGA4) in the etiology of autism, by replicating previous findings of a genetic association with autism in various independent populations. The ITGA4 gene maps to the autism linkage region on 2q31-33 and is therefore a plausible positional candidate. We tested eight single nucleotide polymorphisms (SNPs) in the ITGA4 gene region for association with autism in a sample of 164 nuclear families. Evidence for association was found for the rs155100 marker (P = 0.019) and for a number of specific marker haplotypes containing this SNP (0.00053 < P < 0.022). alpha4 integrins are known to play a key role in neuroinflammatory processes, which are hypothesized to contribute to autism. In this study, an association was found between the ITGA4 rs1449263 marker and levels of a serum autoantibody directed to brain tissue, which was previously shown to be significantly more frequent in autistic patients than in age-matched controls in our population. This result suggests that the ITGA4 gene could be involved in a neuroimmune process thought to occur in autistic patients and, together with previous findings, offers a new perspective on the role of integrins in the etiology of autism to which little attention has been paid so far.por
dc.identifier.citationAm J Med Genet B Neuropsychiatr Genet. 2009 Dec 5;150B(8):1147-51por
dc.identifier.issn1552-4841
dc.identifier.otherdoi: 10.1002/ajmg.b.30940
dc.identifier.urihttp://hdl.handle.net/10400.18/246
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherWiley-Blackwellpor
dc.relation.publisherversionhttp://onlinelibrary.wiley.com/doi/10.1002/ajmg.b.30940/abstractpor
dc.subjectAutismpor
dc.subjectITGA4 genepor
dc.subjectNeuroimmune processpor
dc.subjectPerturbações do Desenvolvimento Infantil e Saúde Mentalpor
dc.titleAssociation of the alpha4 integrin subunit gene (ITGA4) with autismpor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage1151por
oaire.citation.startPage1147por
oaire.citation.titleAmerican Journal of Medical Genetics Part B: Neuropsychiatric Geneticspor
rcaap.rightsrestrictedAccesspor
rcaap.typearticlepor

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