Neurology Genetics · 2024 · 12 citations · 40 references
Life SciencesGeneticsMolecular GeneticsGene ExpressionGenomicsMedical GeneticsGenetic DisordersMolecular Risk FactorsRare Disease GeneticsUntranslated RegionsDisease-associated Untranslated Region VariantsProtein Expression Levels
Background and Objectives: is the causal variant. Methods: lead variant on mRNA and protein levels. Results: mRNA expression. Discussion: in tight linkage with the lead FTLD-TDP risk variant. The lead variant is associated with TMEM106B protein levels, but not expression. The 3'UTR insertion is a lead candidate for the causal variant at this complex locus, pending confirmation with functional studies.
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