Four genetic variants have been identified that are associated with an increased risk for developing progressive multifocal leukoencephalopathy (PML), according to a study presented at the annual meeting of the American Neurological Association, held from Sept. 9 to 12 in Philadelphia.
Eli Hatchwell, M.D., Ph.D., from Population Bio UK Inc. in Begbroke, England, and colleagues examined genetic risk variants in PML patient genomes in a cohort of 336 patients with PML, 94 of whom had multiple sclerosis and were exposed to PML-linked drugs before developing PML.
The researchers validated four candidate PML risk genetic variants, which were associated with PML in population- and matched-controls. Carriers of at least oneAll four risk variants were predicted to be deleterious and were located in two immune pathways: the complement system and genes causing or linked to hemophagocytic lymphohistiocytosis disorders . Two case reports have previously described patients with HLH who developed PML, underscoring this link.
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