The authors conclude that effects not directly linked to the amino acid change are critical for protection, but the specific regulatory variants responsible remain unidentified. Identifying these variants is essential for understanding TMEM106B's disease-modifying mechanism. Gap type: open_question Source paper: Lack of a protective effect of the Tmem106b "protective SNP" in the Grn knockout mouse model for frontotemporal lobar degeneration. (2023, Acta neuropathologica communications, PMID:36707901)
Landscape Summary: Which non-coding genetic variants in linkage disequilibrium with rs3173615 mediate the actual protective effect in FTLD-GRN? is a 0.79 priority gap in neurodegeneration. It has 0 linked hypotheses with average composite score 0.000. Status: open.
Colonna, Sevlever, et al. (TREM2 biology)
Which non-coding genetic variants in linkage disequilibrium with rs3173615 mediate the actual protective effect in FTLD-GRN? — INVOKE-2 (completed)
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