ArticleJournal of neurology2015
UNC13A confers risk for sporadic ALS and influences survival in a Spanish cohort.
Article in Journal of neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 3 of them syntheses that pooled it.
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Who cites it
25 citing papers in PubMed, 3 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis.BMC medicine · 2022Pooled it
- UNC13A variant rs12608932 is associated with increased risk of amyotrophic lateral sclerosis and reduced patient survival: a meta-analysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2019Pooled it
- Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials.Neurology · 2017Pooled it
- The UNC13A cryptic exon associates with cognitive impairment in Alzheimer's disease.Alzheimer's research & therapy · 2026Article
- Distinct UNC13A Haplotype Blocks Define Disease Severity and Survival in Chinese Amyotrophic Lateral Sclerosis.European journal of neurology · 2026Article
- Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.Nature genetics · 2025Article
- The role ofFrontiers in neuroscience · 2024Article
- Review
- Review
- The era of cryptic exons: implications for ALS-FTD.Molecular neurodegeneration · 2023Review
- TDP-43 and other hnRNPs regulate cryptic exon inclusion of a key ALS/FTD risk gene, UNC13A.PLoS biology · 2023Article
- Association of the risk factorFrontiers in aging neuroscience · 2023Article
- Clinical and Metabolic Signature ofNeurology. Genetics · 2022Article
- Cracking the cryptic code in amyotrophic lateral sclerosis and frontotemporal dementia: Towards therapeutic targets and biomarkers.Clinical and translational medicine · 2022Article
- Article
- The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis.Annals of neurology · 2020Article
- Amyotrophic Lateral Sclerosis: Current Status in Diagnostic Biomarkers.Advances in experimental medicine and biology · 2020Review
- ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?Frontiers in neuroscience · 2019Review
- UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis.Neurobiology of aging · 2019Article
- KMolecular neurobiology · 2018Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To investigate the association of functional variants of the human UNC13A gene with the risk of ALS, survival and the disease progression rate in a Spanish ALS cohort. 136 sporadic ALS (sALS) patients and 487 healthy controls were genotyped for the UNC13A rs12608932 variant. Clinical characterization of ALS patients included gender, age at first symptom, initial topography, disease progression rate, and survival. Genetic association was analyzed under five inheritance models. The sALS patients with the rs12608932(CC) genotype had an increased risk of ALS under a recessive genetic model [OR 2.16; 95 % CI (1.23, 3.8), p = 0.009; corrected p = 0.028]. Genotypes with a C allele are also associated with increased risk [OR 1.47; 95 % CI (1.11, 1.95); p = 0.008; corrected p = 0.023] under an additive model. sALS patients with a C/C genotype had a shorter survival than patients with A/A and A/C genotypes [HR 1.44; 95 % CI (1.11, 1.873); p = 0.007] under a recessive model. In an overdominant model, heterozygous patients had a longer survival than homozygous patients [HR 0.36; 95 % CI (0.22, 0.59); p = 0.001]. The rs12608932 genotypes modify the progression of symptoms measured using the ALSFRS-R. No association with age of onset, initial topography or rate of decline in FVC was found. Our results show that rs12608932 is a risk factor for ALS in the Spanish population and replicate the findings described in other populations. The rs12608932 is a modifying factor for survival and disease progression rate in our series. Our results also corroborated that it did not influence the age of onset.
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