Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder

Jia, X. M. (author)

Goes, F. S. (author)

Locke, A. E. (author)

Palmer, D. (author)

Wang, W. Q. (author)

Cohen-Woods, S. (author)

Genovese, G. (author)

Jackson, A. U. (author)

Jiang, C. (author)

Kvale, M. (author)

Mullins, N. (author)

Nguyen, H. (author)

Pirooznia, M. (author)

Rivera, M. (author)

Ruderfer, D. M. (author)

Shen, L. (author)

Thai, K. (author)

Zawistowski, M. (author)

Zhuang, Y. W. (author)

Abecasis, G. (author)

Akil, H. (author)

Bergen, S. (author): Karolinska Institutet

Burmeister, M. (author)

Champion, S. (author)

DelaBastide, M. (author)

Jureus, A. (author)

Kang, H. M. (author)

Kwok, P. Y. (author)

Li, J. Z. (author)

Levy, S. E. (author)

Monson, E. T. (author)

Moran, J. (author)

Sobell, J. (author)

Watson, S. (author)

Willour, V. (author)

Zollner, S. (author)

Adolfsson, Rolf (author): Umeå universitet,Psykiatri

Blackwood, D. (author)

Boehnke, M. (author)

Breen, G. (author)

Corvin, A. (author)

Craddock, N. (author)

DiFlorio, A. (author)

Hultman, C. M. (author)

Landén, Mikael, 1966 (author): Karolinska Institutet,Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Institute of Neuroscience and Physiology

Lewis, C. (author)

McCarroll, S. A. (author)

McCombie, W. R. (author)

McGuffin, P. (author)

McIntosh, A. (author)

McQuillin, A. (author)

Morris, D. (author)

Myers, R. M. (author)

O'Donovan, M. (author)

Ophoff, R. (author)

Boks, M. (author)

Kahn, R. (author)

Ouwehand, W. (author)

Owen, M. (author)

Pato, C. (author)

Pato, M. (author)

Posthuma, D. (author)

Potash, J. B. (author)

Reif, A. (author)

Sklar, P. (author)

Smoller, J. (author)

Sullivan, P. F. (author)

Vincent, J. (author)

Walters, J. (author)

Neale, B. (author)

Purcell, S. (author)

Risch, N. (author)

Schaefer, C. (author)

Stahl, E. A. (author)

Zandi, P. P. (author)

Scott, L. J. (author)

Chapman, Sinéad (author)

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2021-01-22
2021
English.
In: Molecular Psychiatry. - : Springer Science and Business Media LLC. - 1359-4184 .- 1476-5578. ; 26:9, s. 5239-5250

Related links:: https://www.nature.c...; show more...; https://doi.org/10.1...; https://umu.diva-por... (primary) (Raw object); https://gup.ub.gu.se...; https://doi.org/10.1...; https://urn.kb.se/re...; http://kipublication...; show less...

Journal article (peer-reviewed)

Abstract Subject headings

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)

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By the author/editor: Jia, X. M.; Goes, F. S.; Locke, A. E.; Palmer, D.; Wang, W. Q.; Cohen-Woods, S.; show more...; Genovese, G.; Jackson, A. U.; Jiang, C.; Kvale, M.; Mullins, N.; Nguyen, H.; Pirooznia, M.; Rivera, M.; Ruderfer, D. M.; Shen, L.; Thai, K.; Zawistowski, M.; Zhuang, Y. W.; Abecasis, G.; Akil, H.; Bergen, S.; Burmeister, M.; Champion, S.; DelaBastide, M.; Jureus, A.; Kang, H. M.; Kwok, P. Y.; Li, J. Z.; Levy, S. E.; Monson, E. T.; Moran, J.; Sobell, J.; Watson, S.; Willour, V.; Zollner, S.; Adolfsson, Rolf; Blackwood, D.; Boehnke, M.; Breen, G.; Corvin, A.; Craddock, N.; DiFlorio, A.; Hultman, C. M.; Landén, Mikael, ...; Lewis, C.; McCarroll, S. A.; McCombie, W. R.; McGuffin, P.; McIntosh, A.; McQuillin, A.; Morris, D.; Myers, R. M.; O'Donovan, M.; Ophoff, R.; Boks, M.; Kahn, R.; Ouwehand, W.; Owen, M.; Pato, C.; Pato, M.; Posthuma, D.; Potash, J. B.; Reif, A.; Sklar, P.; Smoller, J.; Sullivan, P. F.; Vincent, J.; Walters, J.; Neale, B.; Purcell, S.; Risch, N.; Schaefer, C.; Stahl, E. A.; Zandi, P. P.; Scott, L. J.; Chapman, Sinéad; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Psychiatry

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

Articles in the publication: Molecular Psychi ...

By the university: University of Gothenburg; Umeå University; Karolinska Institutet

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