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GWAS Study

A Multi-center Genome-wide Association Study of Cervical Dystonia.

Sun YV, Li C, Hui Q et al.

34320236 PubMed ID
GWAS Study Type
3364 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

SY
Sun YV
LC
Li C
HQ
Hui Q
HY
Huang Y
BR
Barbano R
RR
Rodriguez R
MI
Malaty IA
RS
Reich S
BK
Bambarger K
HK
Holmes K
JJ
Jankovic J
PN
Patel NJ
RE
Roze E
VM
Vidailhet M
BB
Berman BD
LM
LeDoux MS
EA
Espay AJ
AP
Agarwal P
PS
Pirio-Richardson S
FS
Frank SA
OW
Ondo WG
SR
Saunders-Pullman R
CS
Chouinard S
NS
Natividad S
BA
Berardelli A
PA
Pantelyat AY
BA
Brashear A
FS
Fox SH
KM
Kasten M
KU
Krämer UM
NM
Neis M
BT
Bäumer T
LS
Loens S
BM
Borsche M
ZS
Zittel S
MA
Maurer A
GM
Gelderblom M
VJ
Volkmann J
OT
Odorfer T
KA
Kühn AA
BF
Borngräber F
KI
König IR
CC
Cruchaga C
CA
Cotton AC
KG
Kilic-Berkmen G
FA
Freeman A
FS
Factor SA
SL
Scorr L
BJ
Bremner JD
VV
Vaccarino V
QA
Quyyumi AA
KC
Klein C
PJ
Perlmutter JS
LK
Lohmann K
JH
Jinnah HA
Chapter II

Abstract

Summary of the research findings

Several monogenic causes for isolated dystonia have been identified, but they collectively account for only a small proportion of cases. Two genome-wide association studies have reported a few potential dystonia risk loci; but conclusions have been limited by small sample sizes, partial coverage of genetic variants, or poor reproducibility.

919 European ancestry cases, 1,491 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

3364
Total Participants
GWAS
Study Type
Yes
Replicated
473 cases, 481 controls
Replication Participants
European
Ancestry
Germany
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

Important Disclaimer: This review has been performed semi-automatically and is provided for informational purposes only. While we strive for accuracy, this analysis may contain errors, omissions, or misinterpretations of the original research. DNA Genics disclaims all liability for any inaccuracies, errors, or consequences arising from the use of this information. Users should independently verify all information and consult original research publications before making any decisions based on this content. This analysis is not intended as a substitute for professional scientific review or medical advice.

Analysis In Progress

Our analysis of this publication is currently being prepared. Please check back soon for comprehensive insights into the health and genetic findings discussed in this research.