rs35897051

This is a splice region variant variant in the MPO gene.

▶

GWAS Catalog Trait Associations (6)

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

myeloperoxidase measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 1.13
p 7.0e-221
N 47,745
Large GWAS
European
Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR —
β 1.560
p 8.0e-23
N 3,301
Large GWAS
European

blood protein amount

Yao C et al. “Genome-wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease.” Nature Communications 9(1):3268 (2018)
Allele G
OR 1.48
p 2.0e-42
N 6,861
Large GWAS
European
Orrù V et al. “Complex genetic signatures in immune cells underlie autoimmunity and inform therapy.” Nature Genetics 52(10):1036-1045 (2020)
Allele G
OR 1.24
p 7.0e-14
N 2,920
Large GWAS
European

monocyte percentage of leukocytes

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.17
p 2.0e-31
N 408,112
Large GWAS
European

myeloblastin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.31
p 6.0e-21
N 47,745
Large GWAS
European

monocyte count

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.11
p 8.0e-20
N 394,642
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.10
p 5.0e-12
N 408,112
Large GWAS
European

ras-related protein Rab-26 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR —
β 1.290
p 5.0e-16
N 3,301
Large GWAS
European
▶

ClinVar annotation

Pathogenic★★★☆
24 submitters13 publications

Alzheimer disease type 1 (AD1); MPO-related disorder; Myeloperoxidase deficiency (MPOD); not specified

View on ClinVar →

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…