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Genetic architecture of plasma pTau217 and related biomarkers in Alzheimer's disease via genome-wide association studies.

Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Mar 2026

Kim Jun Pyo, Song Minku, Cho Minyoung, Lee Hyunwoo, Jung Sang-Hyuk, Lim Soohyun, Kim Chanhee, Jang Beomjin, Shin Daeun, Kang Heekyoung, Yim Sohyun, Jang Hyemin, Kim Bo-Hyun, Kim Hee Jin, Na Duk L, An Joon-Yong, Zetterberg Henrik, Blennow Kaj, Gonzalez-Ortiz Fernando, Ashton Nicholas J, Day Theresa A, Seo Sang Won, Won Hong-Hee

Abstract excerpt

INTRODUCTION: We aimed to define the genetic architecture and regulatory mechanisms of Alzheimer's disease (AD) -related plasma biomarkers in an East Asian population. METHODS: Genome-wide association studies (GWAS) of plasma phosphorylated tau at threonine 217 (pTau217), pTau181, neurofilament light chain (NfL), and glial fibrillary acidic protein (GFAP) were performed in 1,972 individuals from the...

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Alzheimer Disease
Biomarkers
Genome-Wide Association Study
Glial Fibrillary Acidic Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Neurofilament Proteins

Quantitative Trait Loci

Republic of Korea

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Open in PubMed Open full text

Identifiers

PMID: 41804841
DOI: 10.1002/alz.71275
PMCID: PMC12973132

Genes

DACT1
GFAP
DAAM1
KCNJ3
KLHDC4
SLC10A7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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