The Complement C4 Genetic Diversity in First Episode Psychosis of the OPTiMiSE Cohort

Abstract Recent findings implicate the complement C4 gene in gray matter loss schizophrenia. In a large cohort of patients with first-episode psychosis (FEP), we aimed to (1) characterize frequency copy number variations (CNVs) and HERV-K Ins/Del events as compared that healthy controls (HCs) (2) evaluate whether structural variants influence baseline clinical symptoms treatment response amisulpride. A total 271 FEP subjects 221 HCs were genotyped for CNV HERV-Ins/Del (C4A C4B isoforms; C4-HERV forms [C4AL, C4AS, C4BL, C4BS] using droplet digital PCR. Overall, frequencies both isoforms did not significantly differ between groups. At genotype level, found AL-AL-BL-BL (AL-BL haplotype) was more frequent HC. Apart from marginal observation concerning haplotype), possibly reflecting relationship schizophrenia, find any correlation genetic characteristics or FEP.