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GWAS Study

Risk loci involved in giant cell arteritis susceptibility: a genome-wide association study.

Borrego-Yaniz G, Ortiz-Fernández L, Madrid-Paredes A et al.

38734017 PubMed ID
GWAS Study Type
19048 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

BG
Borrego-Yaniz G
OL
Ortiz-Fernández L
MA
Madrid-Paredes A
KM
Kerick M
HJ
Hernández-Rodríguez J
MS
Mackie SL
VA
Vaglio A
CS
Castañeda S
SR
Solans R
MJ
Mestre-Torres J
KN
Khalidi N
LC
Langford CA
YS
Ytterberg S
BL
Beretta L
GM
Govoni M
EG
Emmi G
CM
Cimmino MA
WT
Witte T
NT
Neumann T
HJ
Holle J
SV
Schönau V
PG
Pugnet G
PT
Papo T
HJ
Haroche J
MA
Mahr A
ML
Mouthon L
Molberg Ø
DA
Diamantopoulos AP
VA
Voskuyl A
DT
Daikeler T
BC
Berger CT
ME
Molloy ES
BD
Blockmans D
VS
van Sleen Y
IM
Iles M
SL
Sorensen L
LR
Luqmani R
RG
Reynolds G
BM
Bukhari M
BS
Bhagat S
ON
Ortego-Centeno N
BE
Brouwer E
LP
Lamprecht P
KS
Klapa S
SC
Salvarani C
MP
Merkel PA
CM
Cid MC
GM
González-Gay MA
MA
Morgan AW
MJ
Martin J
MA
Márquez A
Chapter II

Abstract

Summary of the research findings

Giant cell arteritis is an age-related vasculitis that mainly affects the aorta and its branches in individuals aged 50 years and older. Current options for diagnosis and treatment are scarce, highlighting the need to better understand its underlying pathogenesis. Genome-wide association studies (GWAS) have emerged as a powerful tool for unravelling the pathogenic mechanisms involved in complex diseases. We aimed to characterise the genetic basis of giant cell arteritis by performing the largest GWAS of this vasculitis to date and to assess the functional consequences and clinical implications of identified risk loci.

3,498 European ancestry cases, 15,550 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

19048
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
Netherlands, Republic of Ireland, Norway, Italy, U.K., France, Switzerland, Germany, Spain
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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Analysis In Progress

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