UNC13A Polymorphism Influences Survival in Patients with Frontotemporal Dementia
Lianne M. Reus (Amsterdam Neuroscience, Vrije Universiteit Amsterdam, University of California)
Sean W. Willemse ( University Medical Centre Utrecht)
Sterre C.M. de Boer (Vrije Universiteit Amsterdam)
Julie De Houwer (Erasmus MC)
Willem L. Hartog (Amsterdam Neuroscience, Vrije Universiteit Amsterdam)
Merel O. Mol (Erasmus MC)
Jeroen G.J. van Rooij (Erasmus MC)
Niccolo Tesi (Vrije Universiteit Amsterdam, TU Delft - Pattern Recognition and Bioinformatics)
Michael A. van Es ( University Medical Centre Utrecht)
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Abstract
UNC13A (rs12608932-CC) is associated with both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), and shortens survival in ALS. We aim to describe the association for UNC13A and survival in FTD. We included 626 patients with FTD from Dutch memory clinics, including a subcohort of 150 patients with TDP-43 pathology. Survival analyses were performed using Cox proportional hazard models in a recessive manner. Homozygosity for rs12608932-C in UNC13A was associated with a shorter survival compared with other genotypes (hazard ratio [HR] = 1.28, 95% confidence interval [CI] = 1.02–1.60, p = 0.033), which has implications for patient counselling and trial design. ANN NEUROL 2025;97:1062–1066.
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