Genetics
Uncovering the Regulatory Architecture of Multiple Sclerosis Risk Variants Through High-Throughput Functional Genomics30, Mar 2026
Alper Bülbül
30, Mar 2026
This blog post examines a genome-wide investigation into the functional consequences of genetic variants associated with multiple sclerosis, focusing on how noncoding risk loci influence gene regulation. Using Massively Parallel Reporter Assays in disease-relevant B cell models, the study identifies widespread enhancer and silencer activity, including allele-specific regulatory effects that help pinpoint potentially causal variants. The findings provide critical insight into the transcriptional mechanisms underlying MS susceptibility and highlight the central role of immune cell regulation in disease pathogenesis.
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