{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["97(6)"],"submitter":["Reus LM"],"pubmed_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."],"journal":["Annals of neurology"],"pagination":["1062-1066"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12082005"],"repository":["biostudies-literature"],"pubmed_title":["UNC13A Polymorphism Influences Survival in Patients with Frontotemporal Dementia."],"pmcid":["PMC12082005"],"pubmed_authors":["van der Lee SJ","van den Berg LH","van Rheenen W","Pijnenburg YAL","Hulsman M","Tesi N","Mol MO","Reus LM","De Houwer J","Seelaar H","van Es MA","Vijverberg EGB","Holstege H","Willemse SW","van Swieten JC","Hartog WL","de Boer SCM","van Rooij JGJ","Donker Kaat L","Veldink JH"],"additional_accession":[]},"is_claimable":false,"name":"UNC13A Polymorphism Influences Survival in Patients with Frontotemporal Dementia.","description":"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.","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jun","modification":"2026-06-01T14:45:36.45Z","creation":"2026-04-08T13:24:39.878Z"},"accession":"S-EPMC12082005","cross_references":{"pubmed":["40214138"],"doi":["10.1002/ana.27245"]}}