13 documents found, page 1 of 2
Association Study of 83 Candidate Genes for Bipolar Disorder in Chromosome 6q S...
Bigdeli, Bernard; Maher, Brion S.; Zhao, Zhongming; Sun, Jingchun; Medeiros, Helena; Akula, Nirmala; McMahon, Francis J.; Carvalho, CéliaBackground: Prior genome-scans of bipolar disorder have revealed chromosome 6q22 as a promising candidate region. However, linkage disequilibrium (LD) mapping studies have yet to identify replicated susceptibility loci. Methods: We analyzed 1,422 LD-tagging single nucleotide polymorphisms (SNPs) in 83 genes to test single-marker and locus-wide evidence of association with bipolar disorder in the NIMH Genetics I...
Genetic Overlap of Schizophrenia and Bipolar Disorder in a High-Density Linkage...
Fanous, Ayman H.; Middleton, Frank A.; Gentile, Karen; Amdur, Richard L.; Maher, Brion S.; Zhao, Zhongming; Sun, Jingchun; Medeiros, HelenaRecent family and genome-wide association studies strongly suggest shared genetic risk factors for schizophrenia (SZ) and bipolar disorder (BP). However, linkage studies have not been used to test for statistically significant genome-wide overlap between them. Forty-seven Portuguese families with sibpairs concordant for SZ, BP, or psychosis (PSY, which includes either SZ or psychotic BP) were genotyped for over...
Common polygenic variation contributes to risk of schizophrenia and bipolardiso...
Purcell, S. M.; Wray, N. R.; Stone, J. L.; Visscher, P. M.; O'Donovan, M. C.; Sullivan, P. F.; Sklar, P.; Leader, S. M.; Ruderfer, D. M.; McQuillin, A.Schizophrenia is a severe mental disorder with a lifetime risk of about 1%, characterized by hallucinations, delusions and cognitive deficits, with heritability estimated at up to 80%. We performed a genome-wide association study of 3,322 European individuals with schizophrenia and 3,587 controls. Here we show, using two analytic approaches, the extent to which common genetic variation underlies the risk of sch...
Rare chromosomal deletions and duplications increase risk of schizophrenia
Craddock, N. J.; Gill, M.; Hultman, C. M.; Lichtenstein, P.; McQuillin, A.; Pato, Carlos N.; Ruderfer, D. M.; Owen, M. J.; St Clair, DavidSchizophrenia is a severe mental disorder marked by hallucinations, delusions, cognitive deficits and apathy, with a heritability estimated at 73–90% (ref. 1). Inheritance patterns are complex, and the number and type of genetic variants involved are not understood. Copy number variants (CNVs) have been identified in individual patients with schizophrenia and also in neurodevelopmental disorders, but large-scal...
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, António; 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...
Genome-wide scan in Portuguese Island families identifies 5q31-5q35 as a suscep...
Sklar, P.; Pato, Michele T.; Kirby, A. N.; Petryshen, T. L.; Medeiros, Helena; Carvalho, Célia; Macedo, António; Dourado, A.; Coelho, I.; Valente, J.Schizophrenia is a common psychiatric disorder with a complex genetic etiology. To understand the genetic basis of this syndrome in Portuguese Island populations, we performed a genome-wide scan of 29 families with schizophrenia, which identified a single region on 5q31-5q35 with strong linkage (NPL=3.09, P=0.0012 at D5S820). Empirical simulations set a genome-wide threshold of NPL=3.10 for significant linkage....
Genome-wide scan in Portuguese Island families implicates multiple loci in bipo...
Pato, Carlos N.; Pato, Michele T.; Kirby, A. N.; Petryshen, T. L.; Medeiros, Helena; Carvalho, Célia; Macedo, António; Dourado, A.; Coelho, I.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...
Genomewide Linkage Analysis of Bipolar Disorder by Use of a High Density Single...
Middleton, Frank A.; Pato, Michele T.; Gentile, Karen; Morley, C. P.; Zhao, X.; Eisener, A. F.; Brown, A.; Petryshen, T. L.; Kirby, A. N.We performed a linkage analysis on 25 extended multiplex Portuguese families segregating for bipolar disorder, by use of a high-density single-nucleotide-polymorphism (SNP) genotyping assay, the GeneChip Human Mapping 10K Array (HMA10K). Of these families, 12 were used for a direct comparison of the HMA10K with the traditional 10-cM microsatellite marker set and the more dense 4-cM marker set. This comparative ...
Bioactive components of Hedera helix.
Medeiros, Jorge R.; Medeiros, Helena; Mascarenhas, Carla; Davin, Laurence B.; Lewis, Norman G.The composition of a methylene chloride extract from the leaves of Hedera helix growing on S. Miguel island (Azores) was investigated. Fourteen compounds were identified. The extract was rich in methyl esters of several carboxylic acids, stigmasterol and α− and β−amyrin and promising antithrombin activity. The active components were identified as β−amyrin, stigmasterol and hexadecanoic acid. β−amyrin also prese...