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000874604 1001_ $$0P:(DE-HGF)0$$aForstner, Andreas J$$b0$$eCorresponding author
000874604 245__ $$aWhole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families
000874604 260__ $$aLondon$$bNature Publishing Group$$c2020
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000874604 520__ $$aBipolar disorder (BD) is a highly heritable neuropsychiatric disease characterized by recurrent episodes of depression and mania. Research suggests that the cumulative impact of common alleles explains 25-38% of phenotypic variance, and that rare variants may contribute to BD susceptibility. To identify rare, high-penetrance susceptibility variants for BD, whole-exome sequencing (WES) was performed in three affected individuals from each of 27 multiply affected families from Spain and Germany. WES identified 378 rare, non-synonymous, and potentially functional variants. These spanned 368 genes, and were carried by all three affected members in at least one family. Eight of the 368 genes harbored rare variants that were implicated in at least two independent families. In an extended segregation analysis involving additional family members, five of these eight genes harbored variants showing full or nearly full cosegregation with BD. These included the brain-expressed genes RGS12 and NCKAP5, which were considered the most promising BD candidates on the basis of independent evidence. Gene enrichment analysis for all 368 genes revealed significant enrichment for four pathways, including genes reported in de novo studies of autism (padj < 0.006) and schizophrenia (padj = 0.015). These results suggest a possible genetic overlap with BD for autism and schizophrenia at the rare-sequence-variant level. The present study implicates novel candidate genes for BD development, and may contribute to an improved understanding of the biological basis of this common and often devastating disease.
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000874604 7001_ $$aFischer, Sascha B$$b1
000874604 7001_ $$aSchenk, Lorena M$$b2
000874604 7001_ $$aStrohmaier, Jana$$b3
000874604 7001_ $$aMaaser-Hecker, Anna$$b4
000874604 7001_ $$aReinbold, Céline S$$b5
000874604 7001_ $$aSivalingam, Sugirthan$$b6
000874604 7001_ $$aHecker, Julian$$b7
000874604 7001_ $$00000-0003-1080-4339$$aStreit, Fabian$$b8
000874604 7001_ $$aDegenhardt, Franziska$$b9
000874604 7001_ $$00000-0002-1571-1468$$aWitt, Stephanie H$$b10
000874604 7001_ $$aSchumacher, Johannes$$b11
000874604 7001_ $$aThiele, Holger$$b12
000874604 7001_ $$aNürnberg, Peter$$b13
000874604 7001_ $$aGuzman-Parra, José$$b14
000874604 7001_ $$aOrozco Diaz, Guillermo$$b15
000874604 7001_ $$aAuburger, Georg$$b16
000874604 7001_ $$aAlbus, Margot$$b17
000874604 7001_ $$aBorrmann-Hassenbach, Margitta$$b18
000874604 7001_ $$aGonzález, Maria José$$b19
000874604 7001_ $$aGil Flores, Susana$$b20
000874604 7001_ $$aCabaleiro Fabeiro, Francisco J$$b21
000874604 7001_ $$aDel Río Noriega, Francisco$$b22
000874604 7001_ $$aPerez Perez, Fermin$$b23
000874604 7001_ $$aHaro González, Jesus$$b24
000874604 7001_ $$aRivas, Fabio$$b25
000874604 7001_ $$aMayoral, Fermin$$b26
000874604 7001_ $$00000-0002-2666-859X$$aBauer, Michael$$b27
000874604 7001_ $$aPfennig, Andrea$$b28
000874604 7001_ $$00000-0002-0992-634X$$aReif, Andreas$$b29
000874604 7001_ $$aHerms, Stefan$$b30
000874604 7001_ $$aHoffmann, Per$$b31
000874604 7001_ $$aPirooznia, Mehdi$$b32
000874604 7001_ $$00000-0001-6262-8264$$aGoes, Fernando S$$b33
000874604 7001_ $$00000-0002-5236-6149$$aRietschel, Marcella$$b34
000874604 7001_ $$aNöthen, Markus M$$b35
000874604 7001_ $$0P:(DE-Juel1)140234$$aCichon, Sven$$b36$$eCorresponding author$$ufzj
000874604 773__ $$0PERI:(DE-600)2609311-X$$a10.1038/s41398-020-0732-y$$gVol. 10, no. 1, p. 57$$n1$$p57$$tTranslational Psychiatry$$v10$$x2158-3188$$y2020
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