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GWAS Study

Meta-analysis of genome-wide association studies identifies ancestry-specific associations underlying circulating total tau levels.

Sarnowski C, Ghanbari M, Bis JC et al.

35396452 PubMed ID
GWAS Study Type
14721 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

SC
Sarnowski C
GM
Ghanbari M
BJ
Bis JC
LM
Logue M
FM
Fornage M
MA
Mishra A
AS
Ahmad S
BA
Beiser AS
BE
Boerwinkle E
BV
Bouteloup V
CV
Chouraki V
CL
Cupples LA
DV
Damotte V
DC
DeCarli CS
DA
DeStefano AL
DL
Djoussé L
FA
Fohner AE
FC
Franz CE
KT
Kautz TF
LJ
Lambert JC
LM
Lyons MJ
MT
Mosley TH
MK
Mukamal KJ
PM
Pase MP
PF
Portilla Fernandez EC
RR
Rissman RA
SC
Satizabal CL
VR
Vasan RS
YA
Yaqub A
DS
Debette S
DC
Dufouil C
LL
Launer LJ
KW
Kremen WS
LW
Longstreth WT
IM
Ikram MA
SS
Seshadri S
Chapter II

Abstract

Summary of the research findings

Circulating total-tau levels can be used as an endophenotype to identify genetic risk factors for tauopathies and related neurological disorders. Here, we confirmed and better characterized the association of the 17q21 MAPT locus with circulating total-tau in 14,721 European participants and identified three novel loci in 953 African American participants (4q31, 5p13, and 6q25) at P < 5 × 10-8. We additionally detected 14 novel loci at P < 5 × 10-7, specific to either Europeans or African Americans. Using whole-exome sequence data in 2,279 European participants, we identified ten genes associated with circulating total-tau when aggregating rare variants. Our genetic study sheds light on genes reported to be associated with neurological diseases including stroke, Alzheimer's, and Parkinson's (F5, MAP1B, and BCAS3), with Alzheimer's pathological hallmarks (ADAMTS12, IL15, and FHIT), or with an important function in the brain (PARD3, ELFN2, UBASH3B, SLIT3, and NSD3), and suggests that the genetic architecture of circulating total-tau may differ according to ancestry.

14,721 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

14721
Total Participants
GWAS
Study Type
No
Replicated
European, African American or Afro-Caribbean
Ancestry
Canada, Netherlands, U.S., France
Recruitment Country
Chapter IV

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