Journal Article

DZNE-2026-00936

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Diagnostic performance of plasma pTau217 in genetically admixed South American populations.

Martino-Adami, P. V. ; Coutinho de Alvarenga, J. ; Freccero, P. ; Huber, H.DZNE* ; Fernandez, J. ; Bolaños Burgos, I. C. ; Postillone, M. B. ; Tomé Oliveira Engelmann, G. ; Mintz, I. ; Romano Silva, M. A. ; Medel, N. ; de Oliveira Hansen, E. ; Lisso, J. ; Dias Silva, N. ; Teixeira Carvalho, A. ; Irureta, N. ; de Miranda, D. M. ; Vallejo-Azar, M. ; Cunha de Marco, L. A. ; Heilmann-Heimbach, S. ; de Paula, J. J. ; Kochen, S. ; Teixeira de Ávila, R. ; Solis, P. ; Schneider, A.DZNE* ; Gonzalez, P. ; de Mattos Viana, B. ; Dalmasso, M. C. ; Camargos Bicalho, M. A. ; Ramírez, A. (Last author)DZNE*

2026
Springer Nature [London]

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Please use a persistent id in citations: doi:10.1038/s41467-026-76434-2

Abstract: Plasma pTau217 is a leading biomarker for Alzheimer's disease, but evidence from genetically admixed populations in low- and middle-income countries remains limited. We evaluated the diagnostic performance of pTau217 and pTau217/Aβ42 measured using Simoa technology in memory-clinic cohorts from Brazil (Cog-Aging-Study, n = 353) and Argentina (GeNED.ar, n = 134). Here we show that both biomarkers accurately identified cerebrospinal fluid (CSF)-defined amyloid pathology in Cog-Aging-Study-Brazil and showed high concordance with clinical diagnosis across both cohorts. Classification performance was improved using two-cut-off approaches that account for diagnostic uncertainty. We further show that APOE-ε4, lower body mass index, and reduced kidney function were associated with higher pTau217 in Cog-Aging-Study-Brazil, whereas education also influenced biomarker levels in GeNED.ar-Argentina. African ancestry modified APOE-ε4 effect on CSF but not plasma biomarkers. These findings support the use of plasma pTau217-based biomarkers in genetically admixed South American populations and in settings with limited access to CSF testing and brain imaging.

Keyword(s): Humans (MeSH) ; Brazil (MeSH) ; Biomarkers: blood (MeSH) ; Biomarkers: cerebrospinal fluid (MeSH) ; Amyloid beta-Peptides: blood (MeSH) ; Amyloid beta-Peptides: cerebrospinal fluid (MeSH) ; Alzheimer Disease: blood (MeSH) ; Alzheimer Disease: diagnosis (MeSH) ; Alzheimer Disease: genetics (MeSH) ; Argentina (MeSH) ; Female (MeSH) ; tau Proteins: blood (MeSH) ; tau Proteins: cerebrospinal fluid (MeSH) ; Male (MeSH) ; Aged (MeSH) ; Peptide Fragments: blood (MeSH) ; Peptide Fragments: cerebrospinal fluid (MeSH) ; Apolipoprotein E4: genetics (MeSH) ; Aged, 80 and over (MeSH) ; Biomarkers ; Amyloid beta-Peptides ; tau Proteins ; Peptide Fragments ; Apolipoprotein E4 ; amyloid beta-protein (1-42)

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Contributing Institute(s):

1. Patient Studies (Bonn) (Patient Studies (Bonn))
2. Translational Dementia Research (Bonn) (AG Schneider)

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

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