Publication
Association of the alpha4 integrin subunit gene (ITGA4) with autism
| dc.contributor.author | Correia, C. | |
| dc.contributor.author | Coutinho, A.M. | |
| dc.contributor.author | Almeida, J. | |
| dc.contributor.author | Lontro, R. | |
| dc.contributor.author | Lobo, C. | |
| dc.contributor.author | Miguel, T.S. | |
| dc.contributor.author | Martins, M. | |
| dc.contributor.author | Gallagher, L. | |
| dc.contributor.author | Conroy, J. | |
| dc.contributor.author | Gill, M. | |
| dc.contributor.author | Oliveira, G. | |
| dc.contributor.author | Vicente, A.M. | |
| dc.date.accessioned | 2011-10-04T16:11:22Z | |
| dc.date.available | 2011-10-04T16:11:22Z | |
| dc.date.issued | 2009-12-05 | |
| dc.description.abstract | In 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.citation | Am J Med Genet B Neuropsychiatr Genet. 2009 Dec 5;150B(8):1147-51 | por |
| dc.identifier.issn | 1552-4841 | |
| dc.identifier.other | doi: 10.1002/ajmg.b.30940 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/246 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | Wiley-Blackwell | por |
| dc.relation.publisherversion | http://onlinelibrary.wiley.com/doi/10.1002/ajmg.b.30940/abstract | por |
| dc.subject | Autism | por |
| dc.subject | ITGA4 gene | por |
| dc.subject | Neuroimmune process | por |
| dc.subject | Perturbações do Desenvolvimento Infantil e Saúde Mental | por |
| dc.title | Association of the alpha4 integrin subunit gene (ITGA4) with autism | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 1151 | por |
| oaire.citation.startPage | 1147 | por |
| oaire.citation.title | American Journal of Medical Genetics Part B: Neuropsychiatric Genetics | por |
| rcaap.rights | restrictedAccess | por |
| rcaap.type | article | por |
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