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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, Célia

Background: 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, Helena

Recent 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, David

Schizophrenia 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...


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