Chunk #17 — Results — eQTL at a common inversion polymorphism on chromosome 17q21 — Identification of gene expression changes in fetal brain associated with neuropsychiatric traits
We observed association between variants influencing the personality trait of neuroticism and the expression of 7 eGenes and 18 eTranscripts in fetal brain. The majority of these (4 eGenes and 17 eTranscripts) were located at the common inversion polymorphism on chromosome 17q21. The most significant SMR associations were observed for transcripts of LRRC37A, encoding Leucine Rich Repeat Containing 37A (smallest P-SMR = 2.33 × 10− 13) and KANSL1, encoding KAT8 Regulatory NSL Complex Subunit 1 (smallest P-SMR = 8.1 × 10− 12), with variants conferring higher neuroticism scores associated with increased expression of both genes. The three neuroticism-associated genes that did not map to the inversion are functionally uncharacterized, but for one of these genes (AC022784.7), the cis-eQTL is predicted to be fetal-specific. The only neuroticism-associated transcript that did not map to chromosome 17q21 is annotated to the ORC4 gene, encoding Origin Recognition Complex Subunit 4 (P-SMR = 1.91 × 10− 7).
