Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Journal
Molecular psychiatry
ISSN: 1476-5578
Titre abrégé: Mol Psychiatry
Pays: England
ID NLM: 9607835
Informations de publication
Date de publication:
09 2021
09 2021
Historique:
received:
02
11
2019
accepted:
16
12
2020
revised:
14
12
2020
pubmed:
24
1
2021
medline:
1
2
2022
entrez:
23
1
2021
Statut:
ppublish
Résumé
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 × 10
Identifiants
pubmed: 33483695
doi: 10.1038/s41380-020-01006-9
pii: 10.1038/s41380-020-01006-9
pmc: PMC8295400
mid: NIHMS1655878
doi:
Types de publication
Journal Article
Meta-Analysis
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
5239-5250Subventions
Organisme : NIMH NIH HHS
ID : R01 MH085543
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH104964
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH077139
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH087979
Pays : United States
Organisme : Medical Research Council
ID : MR/L010305/1
Pays : United Kingdom
Organisme : NIMH NIH HHS
ID : R01 MH106527
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH094145
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH085548
Pays : United States
Organisme : NIA NIH HHS
ID : RC2 AG036607
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH095034
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH105653
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH110437
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH123451
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA045508
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH106531
Pays : United States
Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2021. The Author(s).
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