Menu
Currency
GWAS Study

Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.

Jones E, Hummerich H, Viré E et al.

32949544 PubMed ID
GWAS Study Type
516793 Participants
64 Views
Scroll to explore
Chapter I

Publication Details

Comprehensive information about this research publication

Authors

JE
Jones E
HH
Hummerich H
VE
Viré E
UJ
Uphill J
DA
Dimitriadis A
SH
Speedy H
CT
Campbell T
NP
Norsworthy P
QL
Quinn L
WJ
Whitfield J
LJ
Linehan J
JZ
Jaunmuktane Z
BS
Brandner S
JP
Jat P
NA
Nihat A
HM
How Mok T
AP
Ahmed P
CS
Collins S
SC
Stehmann C
SS
Sarros S
KG
Kovacs GG
GM
Geschwind MD
GA
Golubjatnikov A
FK
Frontzek K
BH
Budka H
AA
Aguzzi A
KH
Karamujić-Čomić H
VD
van der Lee SJ
IC
Ibrahim-Verbaas CA
VD
van Duijn CM
SB
Sikorska B
GE
Golanska E
LP
Liberski PP
CM
Calero M
CO
Calero O
SP
Sanchez-Juan P
SA
Salas A
MF
Martinón-Torres F
BE
Bouaziz-Amar E
HS
Haïk S
LJ
Laplanche JL
BJ
Brandel JP
AP
Amouyel P
LJ
Lambert JC
PP
Parchi P
BA
Bartoletti-Stella A
CS
Capellari S
PA
Poleggi A
LA
Ladogana A
PM
Pocchiari M
AS
Aneli S
MG
Matullo G
KR
Knight R
ZS
Zafar S
ZI
Zerr I
BS
Booth S
CM
Coulthart MB
JG
Jansen GH
GK
Glisic K
BJ
Blevins J
GP
Gambetti P
SJ
Safar J
AB
Appleby B
CJ
Collinge J
MS
Mead S
Chapter II

Abstract

Summary of the research findings

Human prion diseases are rare and usually rapidly fatal neurodegenerative disorders, the most common being sporadic Creutzfeldt-Jakob disease (sCJD). Variants in the PRNP gene that encodes prion protein are strong risk factors for sCJD but, although the condition has similar heritability to other neurodegenerative disorders, no other genetic risk loci have been confirmed. We aimed to discover new genetic risk factors for sCJD, and their causal mechanisms.

4,110 European ancestry cases, 13,569 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

516793
Total Participants
GWAS
Study Type
Yes
Replicated
1,098 European ancestry cases, 498 ,016 European ancestry controls
Replication Participants
European
Ancestry
Austria, France, Germany, Italy, Netherlands, Poland, Spain, Switzerland, U.K., Canada, U.S., Australia
Recruitment Country
Chapter IV

AI-Generated Summary

AI-generated by DNAGENICS

Independent AI summary of health and genetic findings from the published study

Important: This summary is AI-generated by DNAGENICS for informational purposes only. It was not created by, affiliated with, or endorsed by the researchers behind the original publication, and is based solely on that published research. It may contain errors or omissions. DNAGENICS disclaims all liability for any inaccuracies or consequences arising from use of this information. Verify all information against the original publication. This is not professional scientific review or medical advice.

AI Summary In Progress

Our AI-generated summary of this publication is being prepared. Please check back soon.