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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
44 Views
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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

AI-Generated Summary

AI-generated by DNAGENICS

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

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