Peruvian Population Empowers Discovery of a <i>TREM2</i> Missense Variant in Alzheimer Disease

Peruvian GWAS identified Amerindian ancestry specific exonic AD susceptibility variant p.H157Y. This variant has been previously reported as AD marker in Han Chinese populations with extreme effect size, but its rarity and contradictory findings in other groups suggest a potential ancestry-specific effect. Functional studies indicate that it may enhance TREM2 shedding, impacting microglial function and contributing to AD pathogenesis. These observations highlight the power of examining diverse populations to gain a more comprehensive view of the genetic architecture of AD.

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Publication Details

Journal
Alzheimer s & Dementia
Published
2025-12-01
DOI
https://doi.org/10.1002/alz70855_105970
Primary Topic
Neuroinflammation and Neurodegeneration Mechanisms
Type
article
Field-Weighted Citation Impact
0.00
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article

Peruvian Population Empowers Discovery of a TREM2 Missense Variant in Alzheimer Disease

Patrice Whitehead, Clifton L. Dalgard, Michael Cuccaro, Angel Medina‐Colque et al.
Alzheimer s & Dementia
Neuroinflammation and Neurodegeneration Mechanisms
article

Peruvian Population Empowers Discovery of a TREM2 Missense Variant in Alzheimer Disease

Patrice Whitehead, Clifton L. Dalgard, Michael Cuccaro, Angel Medina‐Colque, Bilçağ Akgün, Maryenela Illanes‐Manrique, Julia Ríos‐Pinto, Kara L. Hamilton‐Nelson, Katrina Celis, Jeffery M. M Vance, Edward Ochoa‐Valle, Pedro Mena, Eden R. Martin, Elison Sarapura‐Castro, Anthony J. Griswold, Ivan Cornejo‐Herrera, Katalina McInerney, Alzheimer's Disease Sequencing Project, Mario Cornejo‐Olivas, Sheila Castro‐Suarez, Margaret Pericak‐Vance, Victoria Marca‐Ysabel, Larry D Adams, Farid Rajabli, Koni Mejia ‐ Rojas, Rosario Isasi
article en

Abstract

Peruvian GWAS identified Amerindian ancestry specific exonic AD susceptibility variant p.H157Y. This variant has been previously reported as AD marker in Han Chinese populations with extreme effect size, but its rarity and contradictory findings in other groups suggest a potential ancestry-specific effect. Functional studies indicate that it may enhance TREM2 shedding, impacting microglial function and contributing to AD pathogenesis. These observations highlight the power of examining diverse populations to gain a more comprehensive view of the genetic architecture of AD.

Alzheimer s & DementiaVol. 21(S1)
University of Miami (US), Uniformed Services University of the Health Sciences (US), Universidad Científica del Sur (PE), Los Andes Peruvian University (PE), Daniel Alcides Carrión National University (PE), Ministerio de Educación del Perú (PE), Instituto Nacional de Enfermedades Neoplásicas (PE), Dirección Regional de Salud del Callao (PE), Dr. John T. Macdonald Foundation (US), Universidad Andina del Cusco (PE), Global Brain Health Institute (US), Instituto Nacional de Ciencias Neurológicas
Openalex Percentile: Top 38%
Neuroinflammation and Neurodegeneration Mechanisms
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