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GWAS Study

Genome-Wide Search for Nonadditive Allele Effects Identifies PSKH2 as Involved in the Variability of Factor V Activity.

Gendre B, Martinez-Perez A, Kleber ME et al.

39424413 PubMed ID
GWAS Study Type
4505 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

GB
Gendre B
MA
Martinez-Perez A
KM
Kleber ME
VH
van Hylckama Vlieg A
BA
Boland A
OR
Olaso R
GM
Germain M
MG
Munsch G
MA
Moissl AP
SP
Suchon P
SJ
Souto JC
SJ
Soria JM
DJ
Deleuze JF
MW
März W
RF
Rosendaal FR
SM
Sabater-Lleal M
MP
Morange PE
TD
Trégouët DA
Chapter II

Abstract

Summary of the research findings

Factor V (FV) is a key molecular player in the coagulation cascade. FV plasma levels have been associated with several human diseases, including thrombosis, bleeding, and diabetic complications. So far, 2 genes have been robustly found through genome-wide association analyses to contribute to the inter-individual variability of plasma FV levels: structural F5 gene and PLXDC2.

2,374 European ancestry venous thrombosis cases, 2,131 European ancestry venous thrombosis controls

Chapter III

Study Statistics

Key metrics and study information

4505
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
Netherlands, France, Germany, Spain
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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