rs7208693

This is a variant in the MPO gene that changes a valine to an phenylalanine.

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GWAS Catalog Trait Associations (4)

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

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.29
p 2.0e-31
N 10,708
Large GWAS
European

ras-related protein Rab-26 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.28
p 2.0e-30
N 10,708
Large GWAS
European

myeloperoxidase measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.27
p 8.0e-26
N 10,708
Large GWAS
European

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele A
OR 0.28
p 4.0e-23
N 5,362
Large GWAS
European
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ClinVar annotation

Benign
1 submitter

MPO-related disorder

View on ClinVar →
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Research that mentions this SNP (3)

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Genetic polymorphisms in oxidative stress‐related genes are associated with outcomes following treatment for aggressive B‐cell non‐Hodgkin lymphoma
AssociationN=909Heather L. Gustafson et al.(2014)· American Journal of Hematology

Genetic polymorphisms in oxidative stress-related genes were associated with treatment outcomes in aggressive B-cell non-Hodgkin lymphoma. In discovery (n=337) and validation (n=572) cohorts, rare homozygotes for MPO rs2243828 (HR=1.87, P=0.013) and AKR1C3 rs10508293 (HR=2.09, P=0.0032) were associated with increased risk of progression, while NCF4 rs1883112 rare homozygotes showed protective effects against progression (HR=0.66, P=0.06 discovery; HR=0.66, P=0.05 validation). Meta-analysis confirmed NCF4 association with improved survival outcomes (HR=0.66, P<0.01).

Traits studied:Aggressive B-cell non-Hodgkin lymphomaDiffuse large B-cell lymphoma (DLBCL)Hematologic toxicityOverall survivalProgression-free survival
PubMedDOIMetascience Observatory
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Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome
AssociationN=71Sophie E. Winder‐Rhodes et al.(2012)· Movement Disorders

Doctoral dissertation investigating genetic mechanisms of lysosomal dysfunction in Parkinson's disease using targeted panel sequencing of 440 lysosomal pathway genes in 51 PD patients and 20 healthy controls. Identified 396 variants exclusively present in PD patients across 208 genes, with variants enriched in lysosomal organization, organic substance transport, and sphingolipid metabolism pathways. Functional studies confirmed that knockdown of GALC, LRBA, and ARSD genes induces lysosomal dysfunction and alpha-synuclein accumulation in cell models.

Traits studied:Parkinson's diseaseidiopathic Parkinson's disease
PubMedDOIMetascience Observatory
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Genetic variants in TLR2 and TLR4 are associated with markers of monocyte activation: the Atherosclerosis Risk in Communities MRI Study
AssociationN=1,817Suzette J. Bielinski et al.(2011)· Human Genetics

This candidate gene study of 1,817 participants from the ARIC Carotid MRI cohort identified genetic variants associated with monocyte activation markers. TLR2 rs1816702 was associated with increased CD14+/TLR2+ monocyte levels in whites (p<0.001), while TLR4 rs5030719 was associated with CD14+/TLR4+ levels in blacks (p<0.001). MPO gene variants also showed modest associations with monocyte MPO levels, demonstrating population-specific genetic influences on immune cell surface receptor expression.

Traits studied:Monocyte CD14+/TLR2+ levelsMonocyte CD14+/TLR4+ levelsMonocyte MPO levelsMonocyte activation markers
PubMedDOIMetascience Observatory

About MPO

Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heavy chain. The mature myeloperoxidase is a tetramer composed of 2 light chains and 2 heavy chains. This enzyme produces hypohalous acids central to the microbicidal activity of neutrophils. [provided by RefSeq, Nov 2014]

View all MPO variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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