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

Autor: Mariaselvam, Christina M., Ching-Lien Wu, Boukouaci, Wahid, Richard, Jean-Romain, Barau, Caroline, Le Corvoisier, Philippe, Dazzan, Paola, Egerton, Alice, Pollak, Thomas A., McGuire, Philip, Rujescu, Dan, Jamain, Stéphane, Leboyer, Marion, Tamouza, Ryad
Předmět:
Zdroj: Schizophrenia Bulletin Open; Jan2021, Issue 1, p1-7, 7p
Abstrakt: Recent findings implicate the complement C4 gene in gray matter loss in schizophrenia. In a large cohort of patients with first-episode psychosis (FEP), we aimed to (1) characterize the frequency of C4 gene copy number variations (CNVs) and HERV-K Ins/Del events as compared to that in healthy controls (HCs) and (2) evaluate whether C4 gene structural variants influence baseline clinical symptoms and treatment response to amisulpride. A total of 271 FEP subjects and 221 HCs were genotyped for C4 CNV and HERV-Ins/Del (C4A and C4B isoforms; C4-HERV structural forms [C4AL, C4AS, C4BL, C4BS] variations using droplet digital PCR. Overall, the gene frequencies of both C4 isoforms and C4-HERV structural forms did not significantly differ between groups. At the genotype level, we found that the C4 AL-AL-BL-BL genotype (AL-BL haplotype) was significantly more frequent in FEP as compared to HC. Apart from a marginal observation concerning the C4 AL-AL-BL-BL genotype (AL-BL haplotype), possibly reflecting a relationship with schizophrenia, we did not find any correlation between C4 genetic and clinical characteristics or treatment response in FEP. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index