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GWAS Study

A genome-wide association study of plasma phosphorylated tau181.

Lord J, Zettergren A, Ashton NJ et al.

34119372 PubMed ID
GWAS Study Type
1153 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

LJ
Lord J
ZA
Zettergren A
AN
Ashton NJ
KT
Karikari TK
BA
Benedet AL
SJ
Simrén J
HA
Hye A
AD
Aarsland D
BK
Blennow K
ZH
Zetterberg H
PP
Proitsi P
Chapter II

Abstract

Summary of the research findings

Plasma phosphorylated tau at threonine-181 (P-tau181) demonstrates promise as an accessible blood-based biomarker specific to Alzheimer's Disease (AD), with levels recently demonstrating high predictive accuracy for AD-relevant pathology. The genetic underpinnings of P-tau181 levels, however, remain elusive. This study presents the first genome-wide association study of plasma P-tau181 in a total sample of 1153 participants from 2 independent cohorts. No loci, other than those within the APOE genomic region (lead variant = rs429358, beta = 0.32, p =8.44 × 10-25) demonstrated association with P-tau181 at genome-wide significance (p < 5 × 10-08), though rs60872856 on chromosome 2 came close (beta = -0.28, p = 3.23 × 10-07, nearest gene=CYTIP). As the APOE ε4 allele is already a well-established genetic variant associated with AD, this study found no evidence of novel genetic associations relevant to plasma P-tau181, though presents rs60872856 on chromosome 2 as a candidate locus to be further evaluated in future larger size GWAS.

1,153 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

1153
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
Canada, U.S.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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