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,

Neurology Genetics · 2024 · 12 citations · 40 references

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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.

References

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