Detection of Circular RNA Expression and Related Quantitative Trait Loci in the Human Dorsolateral Prefrontal Cortex

    May 2019 in “ Genome Biology
    Zelin Liu, Yuan Ran, Changyu Tao, Sichen Li, Jian Chen, Ence Yang
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    TLDR Researchers found that certain RNA circles in the brain are linked to disease risk, but their exact role in disease is still unknown.
    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.
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