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Investigating rare ...
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder
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Jia, X. M. (author)
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Goes, F. S. (author)
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Locke, A. E. (author)
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show more...
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Palmer, D. (author)
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Wang, W. Q. (author)
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Cohen-Woods, S. (author)
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Genovese, G. (author)
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Jackson, A. U. (author)
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Jiang, C. (author)
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Kvale, M. (author)
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Mullins, N. (author)
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Nguyen, H. (author)
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Pirooznia, M. (author)
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Rivera, M. (author)
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Ruderfer, D. M. (author)
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Shen, L. (author)
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Thai, K. (author)
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Zawistowski, M. (author)
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Zhuang, Y. W. (author)
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Abecasis, G. (author)
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Akil, H. (author)
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- Bergen, S. (author)
- Karolinska Institutet
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Burmeister, M. (author)
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Champion, S. (author)
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DelaBastide, M. (author)
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Jureus, A. (author)
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Kang, H. M. (author)
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Kwok, P. Y. (author)
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Li, J. Z. (author)
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Levy, S. E. (author)
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Monson, E. T. (author)
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Moran, J. (author)
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Sobell, J. (author)
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Watson, S. (author)
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Willour, V. (author)
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Zollner, S. (author)
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- Adolfsson, Rolf (author)
- Umeå universitet,Psykiatri
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Blackwood, D. (author)
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Boehnke, M. (author)
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Breen, G. (author)
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Corvin, A. (author)
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Craddock, N. (author)
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DiFlorio, A. (author)
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Hultman, C. M. (author)
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- Landén, Mikael, 1966 (author)
- Karolinska Institutet,Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Institute of Neuroscience and Physiology
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Lewis, C. (author)
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McCarroll, S. A. (author)
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McCombie, W. R. (author)
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McGuffin, P. (author)
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McIntosh, A. (author)
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McQuillin, A. (author)
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Morris, D. (author)
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Myers, R. M. (author)
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O'Donovan, M. (author)
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Ophoff, R. (author)
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Boks, M. (author)
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Kahn, R. (author)
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Ouwehand, W. (author)
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Owen, M. (author)
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Pato, C. (author)
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Pato, M. (author)
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Posthuma, D. (author)
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Potash, J. B. (author)
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Reif, A. (author)
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Sklar, P. (author)
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Smoller, J. (author)
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Sullivan, P. F. (author)
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Vincent, J. (author)
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Walters, J. (author)
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Neale, B. (author)
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Purcell, S. (author)
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Risch, N. (author)
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Schaefer, C. (author)
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Stahl, E. A. (author)
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Zandi, P. P. (author)
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Scott, L. J. (author)
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Chapman, Sinéad (author)
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(creator_code:org_t)
- 2021-01-22
- 2021
- English.
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In: Molecular Psychiatry. - : Springer Science and Business Media LLC. - 1359-4184 .- 1476-5578. ; 26:9, s. 5239-5250
- Related links:
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https://www.nature.c...
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https://doi.org/10.1...
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https://umu.diva-por... (primary) (Raw object)
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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http://kipublication...
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Abstract
Subject headings
Close
- Bipolar disorder (BD) is a serious mental illness with substantial common variant heritability. However, the role of rare coding variation in BD is not well established. We examined the protein-coding (exonic) sequences of 3,987 unrelated individuals with BD and 5,322 controls of predominantly European ancestry across four cohorts from the Bipolar Sequencing Consortium (BSC). We assessed the burden of rare, protein-altering, single nucleotide variants classified as pathogenic or likely pathogenic (P-LP) both exome-wide and within several groups of genes with phenotypic or biologic plausibility in BD. While we observed an increased burden of rare coding P-LP variants within 165 genes identified as BD GWAS regions in 3,987 BD cases (meta-analysis OR = 1.9, 95% CI = 1.3-2.8, one-sided p = 6.0 x 10(-4)), this enrichment did not replicate in an additional 9,929 BD cases and 14,018 controls (OR = 0.9, one-side p = 0.70). Although BD shares common variant heritability with schizophrenia, in the BSC sample we did not observe a significant enrichment of P-LP variants in SCZ GWAS genes, in two classes of neuronal synaptic genes (RBFOX2 and FMRP) associated with SCZ or in loss-of-function intolerant genes. In this study, the largest analysis of exonic variation in BD, individuals with BD do not carry a replicable enrichment of rare P-LP variants across the exome or in any of several groups of genes with biologic plausibility. Moreover, despite a strong shared susceptibility between BD and SCZ through common genetic variation, we do not observe an association between BD risk and rare P-LP coding variants in genes known to modulate risk for SCZ.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Psykiatri (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Psychiatry (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- genome-wide association
- genetic epidemiology research
- spectrum
- disorder
- african-american
- adult health
- schizophrenia
- variants
- burden
- individuals
- risk
- Biochemistry & Molecular Biology
- Neurosciences & Neurology
- Psychiatry
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
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Jia, X. M.
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Goes, F. S.
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Locke, A. E.
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Palmer, D.
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Wang, W. Q.
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Cohen-Woods, S.
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show more...
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Genovese, G.
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Jackson, A. U.
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Jiang, C.
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Kvale, M.
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Mullins, N.
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Nguyen, H.
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Pirooznia, M.
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Rivera, M.
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Ruderfer, D. M.
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Shen, L.
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Thai, K.
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Zawistowski, M.
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Zhuang, Y. W.
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Abecasis, G.
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Akil, H.
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Bergen, S.
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Burmeister, M.
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Champion, S.
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DelaBastide, M.
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Jureus, A.
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Kang, H. M.
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Kwok, P. Y.
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Li, J. Z.
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Levy, S. E.
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Monson, E. T.
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Moran, J.
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Sobell, J.
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Watson, S.
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Willour, V.
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Zollner, S.
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Adolfsson, Rolf
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Blackwood, D.
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Boehnke, M.
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Breen, G.
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Corvin, A.
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Craddock, N.
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DiFlorio, A.
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Hultman, C. M.
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Landén, Mikael, ...
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Lewis, C.
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McCarroll, S. A.
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McCombie, W. R.
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McGuffin, P.
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McIntosh, A.
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McQuillin, A.
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Morris, D.
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Myers, R. M.
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O'Donovan, M.
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Ophoff, R.
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Boks, M.
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Kahn, R.
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Ouwehand, W.
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Owen, M.
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Pato, C.
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Pato, M.
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Posthuma, D.
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Potash, J. B.
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Reif, A.
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Sklar, P.
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Smoller, J.
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Sullivan, P. F.
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Vincent, J.
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Walters, J.
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Neale, B.
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Purcell, S.
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Risch, N.
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Schaefer, C.
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Stahl, E. A.
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Zandi, P. P.
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Scott, L. J.
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Chapman, Sinéad
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Psychiatry
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Molecular Psychi ...
- By the university
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University of Gothenburg
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Umeå University
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Karolinska Institutet