
Genome-wide studies pinpoint 1q22 as a susceptibility locus for cerebral small vessel diseases. By sequencing 95,000 base pairs encompassing SEMA4A, SLC25A44, and PMF1/PMF1-BGLAP, researchers analyzed variants, chromatin interactions, and gene expressions. Results highlighted alterations in promoter-enhancer interactions leading to PMF1 overexpression, potentially impacting polyamine catabolism and associated with non-lobar intracerebral hemorrhage risk at 1q22. The findings provide a potential avenue for preventing cerebral small vessel diseases, shedding light on new insights into their pathogenesis.
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