rs17860955

This variant is located in the MMP10 gene.

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GWAS Catalog Trait Associations (4)

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

matrix metalloproteinase 10 measurement

Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)
Allele T
OR 1.05
p 5.0e-155
N 21,758
Large GWAS
European
Zhao JH et al. “Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets.” Nature Immunology 24(9):1540-1551 (2023)
Allele T
OR 1.14
p 2.0e-129
N 14,744
Large GWAS
multi-ancestry

stromelysin-2 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 1.08
p 5.0e-118
N 10,708
Large GWAS
European
Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 0.870
p 1.0e-23
N 3,301
Large GWAS
European

stromelysin‐2 measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele C
OR 0.74
p 1.0e-16
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

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 C
OR 0.58
p 5.0e-12
N 5,360
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
2 submitters

not provided; Cervical cancer; Uterine corpus endometrial carcinoma; Colon adenocarcinoma; Sarcoma; Gastric cancer; Cholangiocarcinoma; Lung cancer; Ovarian serous cystadenocarcinoma; Malignant tumor of esophagus

View on ClinVar →

About MMP10

This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down fibronectin, laminin, elastin, proteoglycan core protein, gelatins, and several types of collagen. The gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]

View all MMP10 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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