rs4915559

This variant is located in the CFHR4 gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

blood protein amount

Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)

Allele T

OR 0.68

p 2.0e-140

N 3,200

Large GWAS

European

blood coagulation trait

Williams FM et al. “Ischemic stroke is associated with the <i>ABO</i> locus: The EuroCLOT study” Annals of Neurology (2013)

Allele T

OR 0.34

p 7.0e-19

N 2,100

Large GWAS

European

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Research that mentions this SNP (1)

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Ischemic stroke is associated with the ABO locus: The EuroCLOT study

AssociationN=63,100Williams FM et al.(2013)· Annals of Neurology

The EuroCLOT study identified genetic variants associated with coagulation factors in healthy volunteers and examined their association with ischemic stroke using a three-stage design (2,100 twins in discovery, 4,200 cases in stage 2, and 8,900 cases/55,000 controls in stage 3). The lead ABO locus SNP rs505922 showed significant association with ischemic stroke (OR=1.07, 95% CI=1.03-1.11, p=0.0006), with association specifically in cardioembolic and large-vessel stroke but not small-vessel disease. Two additional ABO SNPs (rs643434 and rs651007) also showed significant association.

Traits studied:Cardioembolic strokeD-dimer concentrationFXIII activityFactor VII clotting activityFactor VIIIIschemic strokeLarge-vessel strokeSmall-vessel diseasevon Willebrand Factor

PubMed DOI Metascience Observatory

About CFHR4

This gene is a member of the complement factor H (CFH) gene family, and encodes one of the 5 CFH-related (CFHR) proteins. These 5 genes are closely linked to the CFH gene on chromosome 1q31-q32. The CFHRs are secreted plasma proteins synthesized primarily by the hepatocytes, and composed of highly-related short consensus repeats (SCRs). This protein enhances the cofactor activity of CFH, and is involved in complement regulation. It can associate with lipoproteins and may play a role in lipid metabolism. Alternatively spliced transcript variants encoding different isoforms (varying in the number of SCRs) have been described for this gene. [provided by RefSeq, Jan 2011]