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. 2022 Dec 14;13:1016377. doi: 10.3389/fneur.2022.1016377

Figure 1.

Figure 1

Case and control recruitment and study design. (A) Prior study for genetic discovery and validation using Whole Exome Sequencing (WES), 669 candidate immune response genes, and gnomAD 2.1 (WES + WGS) population controls (45). (B) New recruitment of PML cases and matched controls (JCV+ MS patients exposed to a PML-linked drug ≥2 years). All PML cases and matched controls were genotyped for the prior study's 19 candidate PML risk variants. Matched controls without JCV serostatus were assayed (see Methods). Excluded cases: four were found to be duplicates of the prior study (see Methods). Excluded controls: 152 JCV seronegative (JCV-) patients; one QC failure for genotyping assays due to low quality DNA. (C) Drug-exposed analysis is the pooled subgroup (n = 110) of total PML cases (n = 336) compared to matched controls. Drug-exposed study results are reported in Tables 2, 5 and genes for the top 4 variants are listed.