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@ARTICLE{Mourtzi:281521,
author = {Mourtzi, Niki and Charisis, Sokratis and Ntanasi, Eva and
Hatzimanolis, Alexandros and Ramirez, Alfredo and
Sampatakakis, Stefanos N and Yannakoulia, Mary and Kosmidis,
Mary H and Dardiotis, Efthimios and Hadjigeorgiou, George
and Sakka, Paraskevi and Mamalaki, Eirini and Papandreou,
Christopher and Georgakis, Marios K and Scarmeas, Nikolaos},
title = {{L}ongitudinal {A}ssociation of a {P}olygenic {R}isk
{S}core for {P}lasma {T}-{T}au {W}ith {I}ncident {A}lzheimer
{D}ementia and {M}ild {C}ognitive {I}mpairment.},
journal = {Neurology},
volume = {105},
number = {9},
issn = {0028-3878},
address = {Philadelphia, Pa.},
publisher = {Wolters Kluwer},
reportid = {DZNE-2025-01139},
pages = {e213904},
year = {2025},
abstract = {Elevated levels of total tau (t-tau) are a key biomarker of
neurodegeneration, often seen in Alzheimer disease (AD).
Identifying individuals at increased risk of AD using
minimally invasive biomarkers can enable early intervention.
We developed a polygenic risk score (PRS) for plasma t-tau
and examined its association with the risk for developing
clinical endophenotypes of AD pathology.This longitudinal
cohort study used data from the Hellenic Longitudinal
Investigation of Aging and Diet (HELIAD) study, involving
individuals aged 65 years or older, free of AD, or amnestic
mild cognitive impairment (aMCI-an AD prodrome) at baseline.
Our primary exposure was PRStau, a PRS based on common
genetic variants linked to plasma tau levels. The primary
outcome was aMCI or AD incidence. We assessed the
association between PRStau levels and aMCI/AD risk using Cox
regression models adjusted for age, sex, education, APOE ε4
allele carriership, and population structure. We sought
replication in a sample of UK Biobank (UKB) participants
aged 60 years or older without prevalent dementia.In the
HELIAD sample, among 618 cognitively healthy participants
(mean age 73.37 years, $58.4\%$ female), followed for 2.92
± 0.80 years, 73 developed AD/aMCI. A 1 SD increase in
PRStau was linked to a $29\%$ higher AD/aMCI risk (hazard
ratio [HR] 1.290, $95\%$ CI 1.006-1.654). Stratified
analyses revealed greater effect estimates in women (HR
1.451, $95\%$ CI 1.023-2.058) and younger participants (HR
1.866, $95\%$ CI 1.175-2.962), whereas results in men and
older participants did not reach statistical significance.
In the UKB sample (n = 142,637, mean age 64.2 years, $52\%$
female), 2,737 participants developed AD over 12.9 ± 2.4
years of follow-up. Higher PRStau was also linked to
increased AD risk (HR 1.046, $95\%$ CI 1.007-1.086).These
results support the potential utility of PRS for plasma
t-tau in predicting AD/aMCI incidence. The relationship
between genetic predisposition for elevated plasma t-tau
levels and AD pathology might be influenced by sex and age,
suggesting that these factors should be considered in AD
genetic risk modeling. PRS could serve as an early indicator
of genetic propensity for tau pathology, enhancing existing
AD diagnostic and risk stratification algorithms.},
keywords = {Humans / Cognitive Dysfunction: blood / Cognitive
Dysfunction: genetics / Cognitive Dysfunction: epidemiology
/ Aged / Female / Male / Alzheimer Disease: blood /
Alzheimer Disease: genetics / Alzheimer Disease:
epidemiology / tau Proteins: blood / tau Proteins: genetics
/ Longitudinal Studies / Multifactorial Inheritance / Aged,
80 and over / Incidence / Biomarkers: blood / Risk Factors /
Middle Aged / Cohort Studies / Genetic Risk Score / tau
Proteins (NLM Chemicals) / Biomarkers (NLM Chemicals) / MAPT
protein, human (NLM Chemicals)},
cin = {Patient Studies (Bonn)},
ddc = {610},
cid = {I:(DE-2719)1011101},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:41043097},
doi = {10.1212/WNL.0000000000213904},
url = {https://pub.dzne.de/record/281521},
}