rs1035849

This is a coding sequence variant variant in the PZP gene.

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GWAS Catalog Trait Associations (3)

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 T
OR 0.37
p —
N 10,708
Large GWAS
European

level of pregnancy zone protein in blood

Suhre K et al. “A genome-wide association study of mass spectrometry proteomics using a nanoparticle enrichment platform.” Nature Genetics 57(12):2987-2996 (2025)
Allele T
OR 0.32
p 1.0e-16
N 1,146
Large GWAS
multi-ancestry

level of interleukin-16 in blood serum

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele C
OR 0.46
p 3.0e-11
N 200
Small GWAS
European

About PZP

The protein encoded by this gene is highly expressed in late-pregnancy serum and is similar in structure to alpha-2-macroglobulin. The encoded protein, which acts as a homotetramer, inhibits the activity of all four classes of proteinases. This protein contains cleavage sites for several proteinases. Upon binding of a proteinase, the conformation of this protein changes to trap the proteinase, limiting its activity. This protein appears to be elevated in the sera of presymptomatic Alzheimer's disease patients. [provided by RefSeq, Dec 2016]

View all PZP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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