Genetic Epidemiology

Research Interests

Our main research interest is the genetic basis of complex traits, with a major focus on behavioral pathologies such as autism spectrum disorders. Autism is a chronic behavioral disorder characterized by deficiencies in social interaction, verbal and non-verbal communication and repetitive and stereotyped behaviors, and by a wide variability in symptom severity among patients. Although educational/behavioral intervention and pharmacological therapy can be sometimes helpful, they do not represent a cure for this disorder. The pathophysiology of autism is not understood, but the familiar aggregation of the disease and of other disorders in the spectrum are strong indicators of a genetic contribution, with the involvement of multiple genes.

Publications

Coutinho, A.M., Oliveira, G., Morgadinho, T., Fesel, C., Macedo, T.R., Bento, C., Marques, C., Ataíde, A., Miguel, T., Borges, L., Vicente, A.M. (2004). Variants of the Serotonin Transporter Gene (SLC6A4) Significantly Contribute to Hyperserotonemia in Autism. Molecular Psychiatry 9(3) :264-271

Barreto, M., Santos, E., Ferreira, R., Fesel, C., Fontes, F., Pereira, C., Martins, B., Andreia, R., Viana, J.F., Crespo, F., Vasconcelos, C., Ferreira, C. and Vicente, A.M. (2004). Evidence for CTLA4 as a susceptibility gene for Systemic Lupus Erythematosus. European Journal of Human Genetics (in press)

Silva, S., Correia, C., Fesel, C., Coutinho, A.M., Barreto, M., Marques, C., São-Miguel, T., Ataide, A., Bento, C., Borges, L., Oliveira, G., Vicente, A.M. (2004). Autoantibody repertoires to brain tissue in autism spectrum disorders. Journal of Neuroimmunology (in press)

Oliveira, G., Diogo, L., Grazina, M., Garcia, P., Borges, L., Vicente, A.M., Oliveira, C.R. (2004). Mitochondrial Dysfunction in Autism Spectrum Disorders – evidence for the association of a mitochondrial respiratory chain functional abnormality with autism. Developmental Medicine and Child Neurology (submitted)

Muglia, P., Vicente, A.M., Verga, M., King, N., Macciardi, F., Kennedy, J.L. (2003). Association between the BDNF gene and schizophrenia. Molecular Psychiatry 8(2) :146-147

Wong, A.H.C., Macciardi, F., Klempan, T., Kawczynski, W., Barr, C.L., Lakatoo, S., Wong, M., Buckle, C., Trakalo, J., Boffa, E., Oak, J., Azevedo, M.H., Dourado, A., Coelho, I., Macedo, A., Vicente, A., Valente, J., Ferreira, C.P., Pato, M.T., Pato, C.N., Kennedy, J.L. & Van Tol, H.H.M. (2003). Identification of candidate genes for psychosis in rat models, and possible association between schizophrenia and the 14-3-3 gene. Molecular Psychiatry 8(2) :156-166

Oliveira, G., Matoso, E., Vicente, A.M., Ribeiro, P., Marques, C., Ataíde, A., São-Miguel, T., Saraiva, J., Carreira, I. (2003). Partial Tetrasomy of chromosome 3q mosaicism in a child with autism. Journal of Autism and Developmental Disorders 33(2) :177-185

Vicente, A.M., Coutinho, A.M., Mota-Vieira, L., Marques, C., Oliveira, G. (2000). Genetic variation of serotonin system genes in a sample of autism families form Portugal. Am J Hum Genet 67(4) :Supp.2:303

Petronis, A., Timinskas, A., Basile, V., Vicente, A.M., Janulaitis, A., Kennedy, J.L. (1999). A novel PCR-RFLP detection method using an optimized set of restriction enzymes. Neuromethods 34 In Vitro Neurochemical Techniques. Boulton AA, Baker GB (eds.). Humana Press, Totowa, New Jersey

Basile, V., Vicente, A.M., Martignetti, J.A., Skryabin, B.V., Brosius, J., Kennedy, J.L. (1998). Assignment of the human BC200 RNA gene (BCYRN1) to chromosome 2p16 by radiation hybrid mapping. Cytogenet Cell Genet 82(3-4) :271-2

Vicente, A.M. and Kennedy, J.L. (1997). Molecular Genetics of Neurodevelopment and Schizophrenia. In: Neurodevelopmental Models of Adult Psycopathology Keshavan MS and Murray RM (eds). Cambridge University Press, London

Vicente, A.M., Verga, M., Macciardi, F., Bassett, A., Honer, W., Bean, G., Kennedy, J.L. (1997). NCAM and schizophrenia: genetic studies. Molecular Psychiatry 2 :65-69

Vicente, A.M. and Ambrósio, A. (1997). Genetic strategies in schizophrenia research Psiquiatria Clínica 18(1) :25-34

Vicente, A.M., St.George-hyslop, P., Macciardi, F., Sorbi, S., Mortilla, M., Rogaev, E., Heggart, D., Kennedy, J.L. (1993). Evaluation of APP codon 713 in schizophrenia and Alzheimer's disease. Psychiatric Genetics 3 :223-225