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GWAS Study

Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism.

Iglesias MJ, Sanchez-Rivera L, Ibrahim-Kosta M et al.

37286573 PubMed ID
GWAS Study Type
50412 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

IM
Iglesias MJ
SL
Sanchez-Rivera L
IM
Ibrahim-Kosta M
NC
Naudin C
MG
Munsch G
GL
Goumidi L
FM
Farm M
SP
Smith PM
TF
Thibord F
KJ
Kral-Pointner JB
HM
Hong MG
SP
Suchon P
GM
Germain M
SW
Schrottmaier W
DP
Dusart P
BA
Boland A
KD
Kotol D
EF
Edfors F
KM
Koprulu M
PM
Pietzner M
LC
Langenberg C
DS
Damrauer SM
JA
Johnson AD
KD
Klarin DM
SN
Smith NL
SD
Smadja DM
HM
Holmström M
MM
Magnusson M
SA
Silveira A
UM
Uhlén M
RT
Renné T
MA
Martinez-Perez A
EJ
Emmerich J
DJ
Deleuze JF
AJ
Antovic J
SF
Soria Fernandez JM
AA
Assinger A
SJ
Schwenk JM
SA
Souto Andres JC
MP
Morange PE
BL
Butler LM
TD
Trégouët DA
OJ
Odeberg J
Chapter II

Abstract

Summary of the research findings

Venous thromboembolism (VTE) is a common, multi-causal disease with potentially serious short- and long-term complications. In clinical practice, there is a need for improved plasma biomarker-based tools for VTE diagnosis and risk prediction. Here we show, using proteomics profiling to screen plasma from patients with suspected acute VTE, and several case-control studies for VTE, how Complement Factor H Related 5 protein (CFHR5), a regulator of the alternative pathway of complement activation, is a VTE-associated plasma biomarker. In plasma, higher CFHR5 levels are associated with increased thrombin generation potential and recombinant CFHR5 enhanced platelet activation in vitro. GWAS analysis of ~52,000 participants identifies six loci associated with CFHR5 plasma levels, but Mendelian randomization do not demonstrate causality between CFHR5 and VTE. Our results indicate an important role for the regulation of the alternative pathway of complement activation in VTE and that CFHR5 represents a potential diagnostic and/or risk predictive plasma biomarker.

50,412 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

50412
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
Finland, France, Iceland, Spain
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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