Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/246
Título: Association of the alpha4 integrin subunit gene (ITGA4) with autism
Autor: Correia, C.
Coutinho, A.M.
Almeida, J.
Lontro, R.
Lobo, C.
Miguel, T.S.
Martins, M.
Gallagher, L.
Conroy, J.
Gill, M.
Oliveira, G.
Vicente, A.M.
Palavras-chave: Autism
ITGA4 gene
Neuroimmune process
Perturbações do Desenvolvimento Infantil e Saúde Mental
Data: 5-Dez-2009
Editora: Wiley-Blackwell
Citação: Am J Med Genet B Neuropsychiatr Genet. 2009 Dec 5;150B(8):1147-51
Resumo: 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.
Peer review: yes
URI: http://hdl.handle.net/10400.18/246
ISSN: 1552-4841
Versão do Editor: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.b.30940/abstract
Aparece nas colecções:DPSPDNT - Artigos em revistas internacionais

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