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S086-4

Damaging Rare Variants in DNA Repair and Cell Cycle Pathways Associated
with the Aberrant Functional Connectivity of Hippocampus in First-Episode
Treatment-Naïve Patients with Schizophrenia

Tao Li

West China Hospital, Sichuan University, China

Background/Objective: A complex interplay of genetic and environmental factors contributes to
etiology of schizophrenia. The aim of this study is to link the occurrence of rare missense mutations
to the structure and function of hippocampus in schizophrenia.

Method: In present study, by analyzing the exome sequencing and imaging scan data in 94
first-episode treatment-naïve schizophrenia patients and 134 normal controls

Result: We identified a cluster of rare damaging variants enriched in DNA Repair and Cell Cycle
pathways were present only in 39 schizophrenic patients. Furthermore, we found that schizophrenic
patients with rare damage variants shows an increased FC between left hippocampus (especially for
left dentate gyrus) and left inferior parietal cortex, and decreased FC between left hippocampus and
cerebellum.

Conclusion: Our data supported that damaging rare variants in DNA Repair and Cell Cycle
pathways associated with the aberrant functional connectivity of hippocampus in schizophrenia, and
provide further evidence for the central role of hippocampal function in neurodevelopmental
processes in the disorder.