Chunk #11 — Results — eQTL at a common inversion polymorphism on chromosome 17q21 — Enrichment of fetal brain cis-eQTL within genetic variants associated with neuropsychiatric traits
Genetic effects on gene expression operating in the human fetal brain could influence a variety of post-natal, brain-related phenotypes. We tested for enrichment among high confidence fetal brain eQTL (FDR < 0.05) of variants associated with seven neuropsychiatric traits (attention deficit hyperactivity disorder, anorexia nervosa, autism spectrum disorder, bipolar disorder, major depressive disorder, neuroticism, and schizophrenia) using large-scale GWAS data [26, 31–36]. For these analyses, we focused on transcript-level eQTL as these largely encompass those identified at the gene level and are likely to additionally index subtle regulatory variation (e.g., those affecting splicing, or transcript-specific promoters/enhancers) that could be relevant to complex traits [37]. We assessed enrichment among fetal eQTL of trait-associated variants at four GWAS P value thresholds for each trait (P < 5 × 10− 5, 5 × 10− 6, 5 × 10− 7, and 5 × 10− 8), using a method that accounts for allele frequency, linkage disequilibrium, and local gene density [38]. As a comparison, we performed identical analyses on similar sized GWAS data for five non-brain traits (body mass index, coronary artery disease, inflammatory bowel
