TREM2 is associated with the risk of Alzheimer's disease in Spanish population
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Two recent studies have reported the association of rs75932628-T in the TREM2 gene with the risk for Alzheimer's disease (AD). Rs75932628-T is a rare nonsynonymous variant (p.R47H) that confers a high risk of AD with an effect size similar to that of the APOE ɛ4 allele. However, this association has not been replicated in any independent studies to date. The allelic frequency of rs75932628 varies according to the population from 0.02% to 0.63% among healthy controls. In an attempt to replicate the association between rs75932628-T and AD risk, we genotyped rs75932628 in a cohort of 504 AD subjects and 550 healthy controls from a Spanish population. Rs75932628-T showed a minor allele frequency of 0.3% among this cohort. Interestingly, in our study, rs75932628-T was found exclusively in 1.4% of AD cases (7/504), including 4 early-onset AD cases, and in none of the controls (n = 0/550). Here, we report the first positive replication study in a Spanish population and confirm that TREM2 rs75932628-T is associated with the risk for AD.
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Additional rare variants in TREM2 have been associated with AD risk.
“Since the identification of R47H, additional rare variants in TREM2 have been associated with AD risk [138–140]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [138]
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- Authors
- Benitez, B. A., Cooper, B., Pastor, P., Jin, S.-C., Lorenzo, E., Cervantes, S., & Cruchaga, C.
- Affiliations
- Washington University in St. Louis (US)
- Centro de Investigación Médica Aplicada (ES)
- Venue
- Neurobiology of Aging
- Publisher
- Elsevier BV
- Published
- 2013-06
- Volume
- 34
- Issue
- 6
- Pages
- 1711.e15-1711.e17
- ISSN
- 0197-4580 (ISSN-L)
- PMC
- PMC3596468
- OpenAlex
- W2099345343
- Cited by
- 163
- References
- 13
- Citations by year
- 2026: 3 · 2025: 9 · 2024: 1 · 2023: 2 · 2022: 8 · 2021: 13 · 2020: 10 · 2019: 12 · 2018: 14 · 2017: 15 · 2016: 19 · 2015: 21 · 2014: 21 · 2013: 15
- FWCI
- 17.64
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Neurobiology of Aging (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (P30-NS069329-01)
- Alzheimer Association (NIRG-11-200110)
- Department of Health of the Government of Navarra (13085, 3/2008)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
- Keywords
- TREM2, Alzheimer's disease, genetic risk, non-synonymous mutations, replication study, Spanish population, early-onset Alzheimer's disease, minor allele frequency
- MeSH terms
- Adult, Aged, Aged, 80 and over, Alzheimer Disease, Female, Humans, Male, Membrane Glycoproteins, Middle Aged, Receptors, Immunologic, Spain, Genetic Predisposition to Disease, White People, Genetic Association Studies
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