Fig. 7: Schematic representation of findings from the International FTLD-TDP WGS phase II. | Nature Communications

Fig. 7: Schematic representation of findings from the International FTLD-TDP WGS phase II.

From: Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing

Fig. 7

Genome-wide significant single variant loci, exome-wide significant genes, enriched gene ontology pathways, and tissues- and cell-types enriched for genome-wide significant risk loci are shown for each FTLD-TDP pathological subtype in rings moving from the center (genome-wide significant single variant loci in FTLD-TDP All) to the outer rings. Orange background shades correspond to FTLD-TDP A findings, green background shades to FTLD-TDP B findings, and blue background shades to FTLD-TDP C findings. Gene names in green font were exome-wide significant using a gene-based approach with common variants, while gene names in red font were exome-wide significant using a gene-based approach with rare variants. In addition to unique associations, some overlap between FTLD-TDP A and B exists (TBK1, lysosomal function, and inflammatory response), whereas FTLD-TDP C showed a unique and non-overlapping genetic profile. Note that genetic associations with LRP1B, COL22A1, TRPC4, and TMEM135 (identified in the FTLD-TDP C* GWAS focused solely on pathologically confirmed FTLD-TDP C patients) are not shown.

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