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.2011-10-042011-10-042009-12-05Am J Med Genet B Neuropsychiatr Genet. 2009 Dec 5;150B(8):1147-511552-4841doi: 10.1002/ajmg.b.30940http://hdl.handle.net/10400.18/246In 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.engAutismITGA4 geneNeuroimmune processPerturbações do Desenvolvimento Infantil e Saúde Mentaljournal article