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A Common Variant of the NOTCH4 Gene Modulates Functional Connectivity of the Occipital Cortex and Its Relationship with Schizotypal Traits

Overview
Journal BMC Psychiatry
Publisher Biomed Central
Specialty Psychiatry
Date 2020 Jul 11
PMID 32646407
Citations 2
Authors
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Abstract

Background: Schizotypal traits are considered as inheritable traits and the endophenotype for schizophrenia. A common variant in the NOTCH4 gene, rs204993, has been linked with schizophrenia, but the neural underpinnings are largely unknown.

Methods: In present study, we compared the differences of brain functions between different genotypes of rs204993 and its relationship with schizotypal traits among 402 Chinese Han healthy volunteers. The brain function was evaluated with functional connectivity strength (FCS) using the resting-state functional magnetic resonance image(rs-fMRI). The schizotypal traits were measured by the schizotypal personality questionnaire (SPQ).

Results: Our results showed that carriers with the AA genotype showed reduced FCS in the left occipital cortex when compared with carriers with the AG and GG genotypes, and the carriers with the AG genotype showed reduced FCS in the left occipital cortex when compared with carriers with the GG genotype. The FCS values in the left occipital lobe were negatively associated with the SPQ scores and its subscale scores within the carriers with the GG genotype, but not within the carriers with AA or AG genotype.

Conclusion: Our results suggested that the common variant in the NOTCH4 gene, rs204993, modulates the function of the occipital cortex, which may contribute to schizotypal traits. These findings provide insight for genetic effects on schizotypal traits and its potential neural substrate.

Citing Articles

Genetic evidence for association of variant rs2071287 with schizophrenia susceptibility in the North Indian population.

Priya I, Arora M, Singh H, Sharma I, Mahajan R, Kapoor N Indian J Psychiatry. 2023; 64(6):567-571.

PMID: 36714673 PMC: 9881712. DOI: 10.4103/indianjpsychiatry.indianjpsychiatry_91_22.


Proteomic profile of serum from patients with schizophrenia spectrum disorders.

Dmitrieva E, Smirnova L, Seregin A, Zgoda V, Semke A, Ivanova S PeerJ. 2022; 10:e13907.

PMID: 36061748 PMC: 9438766. DOI: 10.7717/peerj.13907.

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