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Decoding Multiple Sclerosis Genetics: A Dual-Function Variant Linking circRNA Regulation and Alternative Splicing
Decoding Multiple Sclerosis Genetics: A Dual-Function Variant Linking circRNA Regulation and Alternative Splicing

Recent advances in transcriptomics have revealed that genetic variation in multiple sclerosis extends beyond protein-coding genes into the realm of non-coding RNA regulation. This study uncovers a dual-function variant on chromosome 17 that simultaneously modulates circular RNA (circRNA) expression and alternative splicing of the EFCAB13 gene, providing new insight into disease susceptibility mechanisms. By integrating circ-eQTL and sQTL analyses across multiple cohorts, the work highlights how a single nucleotide polymorphism can reshape RNA processing without altering overall gene expression. These findings emphasize the importance of non-coding RNA biology in autoimmune diseases and open new avenues for biomarker discovery and functional genomics research .

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