A 3′UTR Insertion Is a Candidate Causal Variant at the <i>TMEM106B</i> Locus Associated With Increased Risk for FTLD-TDP
Augustine Chemparathy, Yann Le Guen, Yi Zeng, John E. Gorzynski, Tanner Jensen, Chengran Yang, Nandita Kasireddy, Lia Talozzi, Michaël E. Belloy, Ilaria Stewart, Aaron D. Gitler, Anthony D. Wagner, Elizabeth C. Mormino, Victor W. Henderson, Tony Wyss‐Coray, Euan A. Ashley, Carlos Cruchaga, Michael D. Greicius
Abstract
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.
Topics & Concepts
Frontotemporal lobar degenerationLocus (genetics)GeneticsDementiaFrontotemporal dementiaGenome-wide association studySingle-nucleotide polymorphismDiseaseMedicineBiologyGenotypeGenePathologyGenomics and Rare DiseasesGenetic Associations and EpidemiologyNeurological diseases and metabolism