Chunk #16 — Results — eQTL at a common inversion polymorphism on chromosome 17q21 — Identification of gene expression changes in fetal brain associated with neuropsychiatric traits
association with schizophrenia (P-SMR = 6.3 × 10− 8) was in the expression of C4A, encoding Complement C4A, which exhibited increased expression in association with risk variation (Fig. 4). Genetic association between schizophrenia and the major histocompatibility complex (MHC) locus on chromosome 6 has been shown to partly reflect common gene copy number variants resulting in increased expression of C4A in the adult human brain [48]. The present data suggest that pathogenic effects of variation at the C4 locus might begin in utero. We also observed several novel associations with schizophrenia, including reduced expression of transcripts of FLOT1, encoding Flotillin 1 (P-SMR = 5.0 × 10− 7), increased expression of a transcript of MSANTD2, encoding Myb/SANT DNA Binding Domain Containing 2 (P-SMR = 2.8 × 10− 6), and increased expression of HIST1H4L, encoding Histone Cluster 1 H4 Family Member L (P-SMR = 4.4 × 10− 7).
