Detection of Circular RNA Expression and Related Quantitative Trait Loci in the Human Dorsolateral Prefrontal Cortex
May 2019
in “
Genome Biology
”
Studysummary This study identified genetic, biological, and technical factors that influence circRNA expression in the human brain, connecting these factors to potential genetic risk for diseases like schizophrenia and type II diabetes.
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In 2019, a study investigated the expression of circular RNAs (circRNAs) in the human dorsolateral prefrontal cortex, involving 589 samples. The researchers identified 10,559 high-quality circRNAs and 196,255 circRNA quantitative trait loci (circQTLs). The study found that both biological and technical factors contributed to the expression variation of many circRNAs. Some circQTL SNPs were found to influence circRNA formation and were linked to complex diseases like schizophrenia, inflammatory bowel disease, and type II diabetes mellitus. The study also identified 157 circRNAs associated with 122 diseases, suggesting that circRNAs contribute to disease risk. However, the exact impact of circRNAs on disease pathogenesis remains unclear.
