rs867186

plus

Geno	Mag	Summary
(A;A)	0	normal risk for VTE
(A;G)		EPCR H3 haplotype; reduced or increased risk of VTE?
(G;G)		EPCR H3 diplotype; reduced or increased risk of VTE?
(T;T)	0

Reference

GRCh38 38.1/141

Chromosome

20

Position

35176751

Gene

PROCR

is a	snp
is	mentioned by
dbSNP	rs867186
dbSNP (classic)	rs867186
ClinGen	rs867186
ebi	rs867186
HLI	rs867186
Exac	rs867186
Gnomad	rs867186
Varsome	rs867186
LitVar	rs867186
Map	rs867186
PheGenI	rs867186
Biobank	rs867186
1000 genomes	rs867186
hgdp	rs867186
ensembl	rs867186
geneview	rs867186
scholar	rs867186
google	rs867186
pharmgkb	rs867186
gwascentral	rs867186
openSNP	rs867186
23andMe	rs867186
SNPshot	rs867186
SNPdbe	rs867186
MSV3d	rs867186
GWAS Ctlg	rs867186

GMAF

0.08402

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

rs867186 is a SNP that can indicate haplotype H3 of the EPCR gene. The protein product of the EPCR gene activates a part of the anticoagulation pathway. While the rs867186(A) allele could indicate haplotypes H1, H2 or H4, the rs867186(G) allele distinctly tags (identifies) the H3 haplotype.[PMID 17849044]

While most groups studying EPCR H3 agree that it leads to increased soluble EPCR, and thus should theoretically lead to reduced risk for venous thromboembolism, different groups come to different conclusions about the effect in the populations each studies. Two find no association [PMID 15304035, PMID 15116250] while one finds that the H3 haplotype (and thus rs867186(G)) actually increases the risk of venous thromboembolism (VTE), with an odds ratio of 1.80, p=0.004.[PMID 14576048]

GWAS snp
PMID	[PMID 20231535 ]
Trait	Plasma coagulation factors
Title	Novel Associations of Multiple Genetic Loci With Plasma Levels of Factor VII, Factor VIII, and von Willebrand Factor. The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium
Risk Allele	G
P-val	6E-37
Odds Ratio	None None

GWAS snp
PMID	[PMID 20802025 ]
Trait
Title	Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study
Risk Allele	C
P-val	0
Odds Ratio	0.47 [0.44-0.50] ug/ml increase

GWAS snp
PMID	[PMID 21502573 ]
Trait
Title	Genetic predictors of fibrin D-dimer levels in healthy adults.
Risk Allele	G
P-val	0.000004
Odds Ratio	0.0484 [NR] % increase

GWAS snp
PMID	[PMID 22216198 ]
Trait
Title	A genome-wide association study of the Protein C anticoagulant pathway.
Risk Allele	G
P-val	4E-9
Odds Ratio	0.8450 None

[PMID 22443383] Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project

[PMID 16846490 ] Lemierre's syndrome and genetic polymorphisms: a case report.

[PMID 18680534 ] PROC, PROCR and PROS1 polymorphisms, plasma anticoagulant phenotypes, and risk of cardiovascular disease and mortality in older adults: the Cardiovascular Health Study.

[PMID 18947391 ] Hemostasis and ageing.

[PMID 22251481 ] The endothelial protein C receptor (PROCR) Ser219Gly variant and risk of common thrombotic disorders: a HuGE review and meta-analysis of evidence from observational studies.

[PMID 23136988 ] Association of soluble endothelial protein C receptor plasma levels and PROCR rs867186 with cardiovascular risk factors and cardiovascular events in coronary artery disease patients: The AtheroGene Study

[PMID 24635948 ] Association of the endothelial protein C receptor (PROCR) rs867186-G allele with protection from severe malaria

[PMID 25376901 ] Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study

[PMID 24816905 ] Single nucleotide variants in the protein C pathway and mortality in dialysis patients

[PMID 27882376] Plasma levels of the anti-coagulation protein C and the risk of ischaemic heart disease. A Mendelian randomisation study.

[PMID 28415941 ] Endothelial protein C receptor polymorphisms and risk of sepsis in a Chinese population.

[PMID 28530674 ] Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms.

[PMID 29112333 ] Associations of activated coagulation factor VII and factor VIIa-antithrombin levels with genome-wide polymorphisms and cardiovascular disease risk.