Exploring Neurodegenerative Risk Genes in ALS
While the differences between cohorts did not meet statistical significance (likely due to small sample sizes) the observed patterns are consistent with known associations of the risk loci. APOE e4 genetic risk was not enriched in the ALS cohort. TMEM106B-mediated risk and, unexpectedly given its association with tauopathies, MAPT H1 haplotype status were similar in both ALS and non-ALS cohorts. Future analyses will focus on increasing our sample size and defining the relationship of risk alleles to disease characteristics.
Authors
- Laura E. Danielian
- Andrew J. Oler (ORCID: https://orcid.org/0000-0002-6310-0434)
- Mari Tokita
- Allison Snyder (ORCID: https://orcid.org/0000-0002-1857-928X)
- Jody Crook
- Magdalena A Walkiewicz
- Justin Y Kwan
- Kateyln Porter
Institutions
- National Institute of Neurological Disorders and Stroke (US)
- National Institute of Allergy and Infectious Diseases (US)
- University of Pennsylvania (US)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1002/alz70855_107327
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00