7 documents found, page 1 of 1
Analysis of shared heritability in common disorders of the brain
Anttila, Verneri; Bulik-Sullivan, Brendan; Finucane, Hilary K.; Walters, Raymond K.; Bras, Jose; Duncan, Laramie; Escott-Price, ValentinaDisorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified the genetic sharing of 25 brain disorders from genome-wide association studies of 265,218 patients and 784,643 control participants and assessed their relationship to 17 phenotypes from 1,191,588 individuals. Psychiatric disorders share common varian...
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 fami...
Family association study between DRD2 and DRD3 gene polymorphisms and schizophr...
Ambrósio, Alda M.; Kennedy, James L.; Macciardi, Fabio; Macedo, António; Valente, José; Dourado, Ana; Oliveira, Catarina R.; Pato, CarlosSchizophrenia is a highly heritable condition, as demonstrated in family, twin and adoption studies. Candidate genes from the dopaminergic system have long been hypothesized to be involved in the etiology of this disorder. In the present study, we investigated the genetic association between polymorphisms in the D2 and D3 dopamine receptor (DRD2, DRD3) genes and schizophrenia. We examined 90 trios from Portugal...
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...
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, Célia; 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...