Chunk #15 — Results — eQTL at a common inversion polymorphism on chromosome 17q21 — Identification of gene expression changes in fetal brain associated with neuropsychiatric traits
We identified 6 eGenes and 14 eTranscripts for which fetal brain expression was associated with schizophrenia risk. These include reduced expression of ABCB9, encoding ATP Binding Cassette Subfamily B Member 9 (P-SMR = 2.11 × 10− 5), which has been previously implicated through SMR studies of schizophrenia GWAS in blood [44, 46] and other non-brain adult tissues [45], and increased expression of CSPG4P11, encoding Chondroitin Sulfate Proteoglycan 4 Pseudogene 11 (P-SMR = 6.66 × 10− 6), which has also been reported in an SMR study of adult human brain gene expression data [45]. We also observed association between schizophrenia and reduced fetal brain expression of a transcript of KLC1, encoding Kinesin Light Chain 1 (P-SMR = 2.95 × 10− 7), which has recently been implicated in schizophrenia risk through a splicing QTL in the adult brain [47]. The most significant 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
