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Genetic linkage of bipolar disorder to chromosome 6q22 is a consistent finding ...
Pato, Carlos N.; Middleton, Frank A.; Gentile, Karen L.; Morley, Christopher P.; Medeiros, Helena; Macedo, Antonio; Azevedo, M. Helena; Pato, Michele T.We recently reported genome-wide significant linkage to chromosome 6q for bipolar disorder, in a study of 25 Portuguese families, using the Human Mapping Assay Xba 131 (HMA10K). To explore the generalizability of this finding, we reanalyzed our SNP linkage data according to the families' geographic origin. Specifically, the 25 families included 20 families from the Portuguese island collection (PIC; 15 families...
Gene expression analysis of peripheral blood leukocytes from discordant sib-pai...
Middleton, Frank A.; Pato, Carlos N.; Gentile, Karen L.; McGann, Lindsay; Brown, Andrea M.; Trauzzi, Marco; Diab, Heba; Morley, Christopher P.We performed global RNA transcript analysis and comprehensive gene group analysis of peripheral blood leukocyte (PBL) RNA from two groups of matched sib-pairs that were discordant for either schizophrenia (n = 33 sib-pairs) or bipolar disorder (n = 5 sib-pairs). The pairs chosen for these analyses were selected from families with known patterns of genetic linkage (5q for schizophrenia and 6q for bipolar disorde...
A linkage study between the GABAA beta2 and GABAA gamma2 subunit genes and majo...
Ambrósio, Alda M.; Kennedy, James L.; Macciardi, Fabio; King, Nicole; Azevedo, Maria H.; Oliveira, Catarina R.; Pato, Carlos N.Background: Alterations of the γ-aminobutyric acid (GABA) system have been implicated in the pathophysiology of major psychoses. Objective: Restriction fragment length polymorphisms associated with the human γ-aminobutyric acid type A (GABAA) β2 and GABAA γ2 subunit genes on chromosome 5q32-q35 were tested to determine whether they confer susceptibility to major psychoses. Methods: Thirty-two schizophrenic fa...
Association between schizophrenia and the syntaxin 1A gene
Wong, Albert H. C.; Trakalo, Joseph; Likhodi, Olga; Yusuf, Muneeb; Macedo, Antonio; Azevedo, Maria-Helena; Klempan, Tim; Pato, Michele T.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.Methods ; http://www.sciencedirect.com/science/article/B6T4S-4CBVV0X-3/1/aaff2029f9c379930113bc4a5bb300cb
No evidence of association or linkage disequilibrium between polymorphisms in t...
Ambrósio, Alda M.; Kennedy, James L.; Macciardi, Fabio; Barr, Cathy; Soares, Maria J.; Oliveira, Catarina R.; Pato, Carlos N.Alterations in dopaminergic system have been implicated in the pathophysiology of this disease for many years, and this study was performed to assess the possible involvement of the dopamine D4 receptor (DRD4) gene polymorphisms either in the 5prime upstream or in the coding regions, in the etiology of schizophrenia. The approach included an association study with 90 Portuguese trios by doing the analysis of th...
Genome-wide scan in Portuguese Island families implicates multiple loci in bipo...
Pato, Carlos N.; Pato, M. T.; Kirby, A.; Petryshen, T. L.; Medeiros, H.; Carvalho, C.; Macedo, A.; Dourado, A.; Coelho, I.; Valente, J.; Soares, M. J.As part of an extensive study in the Portuguese Island population of families with multiple patients suffering from bipolar disorder and schizophrenia, we performed an initial genome-wide scan of 16 extended families with bipolar disorder that identified three regions on chromosomes 2, 11, and 19 with genome-wide suggestive linkage and several other regions, including chromosome 6q, also approached suggestive l...
Lack of association or linkage disequilibrium between schizophrenia and polymor...
Ambrósio, Alda M.; Kennedy, James L.; Macciardi, Fabio; Coelho, Isabel; Soares, Maria J.; Oliveira, Catarina R.; Pato, Carlos N.Genetic factors play a major role in the etiology of schizophrenia and disturbances of serotonergic pathways have been implicated in this disorder. The aim of the present study was to examine genetic association between schizophrenia and polymorphisms in the 5-HT1Dalpha (TaqI) and 5-HT1Dbeta (T261G and G861C) autoreceptor genes in ninety trios from Portugal. No association or linkage disequilibrium was obtained...
Evidence for linkage disequilibrium between the alpha 7-nicotinic receptor gene...
Xu, Junzhe; Pato, Michele T.; Torre, Camille Dalla; Medeiros, Helena; Carvalho, Celia; Basile, Vincenzo S.; Bauer, Amy; Dourado, Ana; Valente, JoséRecent studies have suggested that the alpha 7-nicotinic receptor gene (CHRNA7) may play a role in the pathogenesis of schizophrenia. The alpha 7-nicotinic receptor gene (CHRNA7) is involved in P50 auditory sensory gating deficits, and the genomic locus for this gene lies in the chromosome 15q13-14 regions. The human gene is partially duplicated (exons 5-10) with four novel upstream exons. The marker D15S1360 h...
An Unstable Trinucleotide-Repeat Region on Chromosome 13 Implicated in Spinocer...
Vincent, John B.; Neves-Pereira, Maria L.; Paterson, Andrew D.; Yamamoto, Etsuko; Parikh, Sagar V.; Macciardi, Fabio; Gurling, Hugh M. D.Larger CAG/CTG trinucleotide-repeat tracts in individuals affected with schizophrenia (SCZ) and bipolar affective disorder (BPAD) in comparison with control individuals have previously been reported, implying a possible etiological role for trinucleotide repeats in these diseases. Two unstable CAG/CTG repeats, SEF2-1B and ERDA1, have recently been cloned, and studies indicate that the majority of individuals wi...
Long repeat tracts at SCA8 in major psychosis
Vincent, John B.; Yuan, Qiu-Ping; Schalling, Martin; Adolfsson, R; Azevedo, M. Helena; Macedo, Antonio; Bauer, Amy; DallaTorre, CamilleExpansion at a recently identified unstable trinucleotide repeat on chromosome 13q21 has been reported as the molecular cause for spinocerebellar ataxia type 8 (SCA8). The trinucleotide repeat, which consists of a [CTA]n repeat and adjacent [CTG]n repeat, was reported to have a pathogenic range of 107-127 CTG repeats (or 110-130 combined CTA and CTG repeats) in a large ataxia kindred. This repeat region was als...
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