Common variant of NOTCH4 gene modulate functional connectivity of occipital cortex and its relationship with schizotypal traits

Abstract

Background Schizotypal traits are considered as heritable traits and the endophenotype for schizophrenia. A common variant in NOTCH4 gene, rs204993, has been linked with schizophrenia, but the neural underpinnings are largely unknown. Methods In present study, we compared the difference of brain function between different genotype 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 resting-state functional magnetic resonance image (rs-fMRI). The schizotypal traits were measured by the schizotypal personality questionnaire (SPQ). Results Our results suggested that the carriers with AA genotype showed reduced FCS in left occipital cortex than the carriers with AG and GG genotype and the carriers with AG genotype showed reduced FCS in left occipital cortex than the carriers with 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 GG genotype, but not within the carriers with AA or AG genotype. Conclusions Our results suggested that the common variant in NOTCH4 gene, rs204993, modulate the function of occipital cortex, which may contribute to the schizotypal traits. These findings provided insight for genetic effect on schizotypal traits and its potential neural substrate.