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Giegling, I.* ; Hartmann, A.M.* ; Genius, J.* ; Konte, B.* ; Maul, S.* ; Straube, A.* ; Eggert, T.* ; Mulert, C.* ; Leicht, G.* ; Karch, S.* ; Hegerl, U.* ; Pogarell, O.* ; Hölter, S.M. ; Möller, H.J.* ; Graw, J. ; Rujescu, D.*

Polymorphisms in CRYBB2 encoding βB2-crystallin are associated with antisaccade performance and memory function.

Transl. Psychiatry 10:113 (2020)
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beta B2-crystallin (gene symbol: Crybb2/CRYBB2) was first described as a structural protein of the ocular lens before it was detected in various brain regions of the mouse, including the hippocampus and the cerebral cortex. Mutations in the mouse Crybb2 gene lead to alterations of sensorimotor gating measured as prepulse inhibition (PPI) and reduced hippocampal size, combined with an altered number of parvalbumin-positive GABAergic interneurons. Decreased PPI and alterations of parvalbumin-positive interneurons are also endophenotypes that typically occur in schizophrenia. To verify the results found in mice, we genotyped 27 single nucleotide polymorphisms (SNPs) within the CRYBB2 gene and its flanking regions and investigated different schizophrenia typical endophenotypes in a sample of 510 schizophrenia patients and 1322 healthy controls. In the case-control study, no association with schizophrenia was found. However, 3 of the 4 investigated haplotype blocks indicated a decreased CRYBB2 mRNA expression. Two of these blocks were associated with poorer antisaccade task performance and altered working memory-linked functional magnetic resonance imaging signals. For the two haplotypes associated with antisaccade performance, suggestive evidence was found with visual memory and in addition, haplotype block 4 showed a nominally significant association with reduced sensorimotor gating, measured as P50 ratio. These results were not schizophrenia-specific, but could be detected in a combined sample of patients and healthy controls. This is the first study to demonstrate the importance of beta B2-crystallin for antisaccade performance and memory function in humans and therefore provides implications for beta B2-crystallin function in the human brain.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Prepulse Inhibition; Calcium-binding; Working-memory; Schizophrenia; Heritability; Startle; Crystallin; Mutation; Deficits; Receptor
Language english
Publication Year 2020
HGF-reported in Year 2020
ISSN (print) / ISBN 2158-3188
e-ISSN 2158-3188
Journal Translational Psychiatry
Quellenangaben Volume: 10, Issue: 1, Pages: , Article Number: 113 Supplement: ,
Publisher Nature Publishing Group
Publishing Place Macmillan Building, 4 Crinan St, London N1 9xw, England
Reviewing status Peer reviewed
Institute(s) Institute of Developmental Genetics (IDG)
POF-Topic(s) 30204 - Cell Programming and Repair
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500500-001
G-500500-002
DOI 10.1038/s41398-020-0791-0
WOS ID WOS:000529508900004
Scopus ID 85083768337
PubMed ID 32317624
Erfassungsdatum 2020-05-15
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