Selection of homogeneous populations for genetic study: the Portugal genetics of psychosis projectC N Pato
Department of Psychiatry, SUNY at Buffalo, New York 14203, USA
Am J Med Genet 74:286-8. 1997
..13 in a rural American population and 0.38 in an urban American population. The results of this analysis indicate that the Azores have the highest degree of homogeneity, and mainland Portugal has a high degree of homogeneity...
- Detection of expansion regions in Portuguese bipolar families
C N Pato
Department of Psychiatry, State University of New York at Buffalo, Buffalo, New York 14214 3000, USA
Am J Med Genet 96:854-7. 2000
..One family shows segregation with the chromosome 18 locus, whereas the other family segregates with expansions at the SCA8 locus. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:854-857, 2000...
- Genetic analyses of schizophrenia
C N Pato
Department of Psychiatry, State University of New York at Buffalo, Laboratory of Psychiatric and Molecular Genetics, G 10 Farber Hall, 3435 Main Street, Buffalo, NY 14214, USA
Curr Psychiatry Rep 2:137-42. 2000
..This review highlights some of the latest progress and findings in the molecular genetic analyses of schizophrenia, including both candidate gene analyses and genome scan studies...
- Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder: fine mapping adds support on chromosomes 6 and 11
Carlos N Pato
Veterans Affairs Medical Center, Washington, DC 20422, USA
Am J Med Genet B Neuropsychiatr Genet 127:30-4. 2004
..Our findings provide additional support for a susceptibility locus for bipolar disorder on 6q, as well as, suggesting the importance of denser scans. Published 2004 Wiley-Liss, Inc...
Genetic overlap of schizophrenia and bipolar disorder in a high-density linkage survey in the Portuguese Island populationAyman H Fanous
Mental Health Service Line, Washington VA Medical Center, Washington, DC, USA
Am J Med Genet B Neuropsychiatr Genet 159:383-91. 2012
..These results suggest that high-density marker maps may provide greater power and precision in linkage studies than lower density maps. They also further support the hypothesis that SZ and BP share at least some risk alleles...
- Genetic linkage of bipolar disorder to chromosome 6q22 is a consistent finding in Portuguese subpopulations and may generalize to broader populations
Carlos N Pato
Veterans Affairs Medical Center, Washington, DC 20422, USA
Am J Med Genet B Neuropsychiatr Genet 134:119-21. 2005
..Taken together these observations suggest a shared genetic liability among Portuguese populations for bipolar disorder on chromosome 6q, and that the PIC population is likely representative of Caucasians in general...
- Lack of association or linkage disequilibrium between schizophrenia and polymorphisms in the 5-HT1Dalpha and 5-HT1Dbeta autoreceptor genes: family-based association study
Alda M Ambrósio
Center for Neuroscience of Coimbra, Department of Neurochemistry, Faculty of Medicine, University of Coimbra, 3004 517 Coimbra, Portugal
Am J Med Genet B Neuropsychiatr Genet 128:1-5. 2004
..Thus, our data provide no support for the hypothesis that polymorphisms at 5-HT1Dalpha (TaqI) and 5-HT1Dbeta (T261G and G861C) genes contributes to susceptibility to schizophrenia in the Portuguese population...
- Association between schizophrenia and the syntaxin 1A gene
Albert H C Wong
Centre for Addiction and Mental Health, Toronto, Ontario, Canada
Biol Psychiatry 56:24-9. 2004
..Both microarray and candidate molecule studies have demonstrated that protein and mRNA expression of syntaxin and other genes involved in synaptic function are altered in the cerebral cortex of patients with schizophrenia...
- Gene expression analysis of peripheral blood leukocytes from discordant sib-pairs with schizophrenia and bipolar disorder reveals points of convergence between genetic and functional genomic approaches
Frank A Middleton
Center for Neuropsychiatric Genetics, Upstate Medical University, Syracuse, NY 13210, USA
Am J Med Genet B Neuropsychiatr Genet 136:12-25. 2005
..Verification of selected changes in expression was performed using quantitative real-time RT-PCR. Our results provide compelling evidence for the utility of analyzing PBL RNA for changes in expression in neuropsychiatric disorders...
- Rare chromosomal deletions and duplications increase risk of schizophrenia
Jennifer L Stone
Nature 455:237-41. 2008
..Our results provide strong support for a model of schizophrenia pathogenesis that includes the effects of multiple rare structural variants, both genome-wide and at specific loci...
Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8qMatthew B McQueen
Harvard School of Public Health, Department of Epidemiology, Boston, MA 02115, USA
Am J Hum Genet 77:582-95. 2005
..Our results establish genomewide significant linkage to BP on chromosomes 6q and 8q, which provides solid information to guide future gene-finding efforts that rely on fine-mapping and association approaches...
- Genetic and post-mortem mRNA analysis of the 14-3-3 genes that encode phosphoserine/threonine-binding regulatory proteins in schizophrenia and bipolar disorder
Albert H C Wong
Centre for Addiction and Mental Health, Faculty of Medicine, University of Toronto, Canada
Schizophr Res 78:137-46. 2005
..The 14-3-3 genes code for a family of proteins that bind to and regulate other proteins, and they modulate neurodevelopment, cell-division, signal transduction and gene transcription...
- Human p53 tumor suppressor gene (TP53) and schizophrenia: case-control and family studies
Xingqun Ni
Neuroscience Research Department, Neurogenetics Section, Centre for Addiction and Mental Health, 250 College Street, Toronto, Canada M5T 1R8
Neurosci Lett 388:173-8. 2005
..017) in Portuguese schizophrenia families. Haplotype analysis also showed a significant association between TP53 and schizophrenia. These results provide further evidence that TP53 may play a role in the pathogenesis of schizophrenia...
- No evidence of association or linkage disequilibrium between polymorphisms in the 5' upstream and coding regions of the dopamine D4 receptor gene and schizophrenia in a Portuguese population
Alda M Ambrósio
Center for Neuroscience of Coimbra, Department of Neurochemistry, Faculty of Medicine, University of Coimbra, Coimbra, Portugal
Am J Med Genet B Neuropsychiatr Genet 125:20-4. 2004
..These data suggest that polymorphisms (-C616G, -C521T, and 48 bp repeat) at the DRD4 gene do not have a minor effect in the susceptibility to schizophrenia in our sample...
- A linkage study between the GABAA beta2 and GABAA gamma2 subunit genes and major psychoses
Alda M Ambrósio
Unit of Clinical and Molecular Genetics, National Institute of Legal Medicine, Faculty of Medicine, University of Coimbra, Largo da Se Nova, 3000 213 Coimbra, Portugal
CNS Spectr 10:57-61. 2005
..Alterations of the gamma-aminobutyric acid (GABA) system have been implicated in the pathophysiology of major psychoses...
