6 documents found, page 1 of 1
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...
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 ...
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...