rs3737240

This is a variant in the ECM1 gene that changes a threonine to an methionine.

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GWAS Catalog Trait Associations (4)

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

extracellular matrix protein 1 amount

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.71
p —
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 T
OR 0.12
p 2.0e-14
N 5,332
Large GWAS
European

chronic musculoskeletal pain

Tsepilov YA et al. “Analysis of genetically independent phenotypes identifies shared genetic factors associated with chronic musculoskeletal pain conditions.” Communications Biology 3(1):329 (2020)
Allele C
OR 0.02
p 2.0e-9
N 265,000
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
3 submitters1 publication

Lipid proteinosis

View on ClinVar →
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Research that mentions this SNP (1)

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Haplotype-based analysis of ulcerative colitis risk loci identifies both IL2 and IL21 as susceptibility genes in Han Chinese
AssociationN=545Jihua Shi et al.(2011)· Inflammatory Bowel Diseases

This haplotype-based case-control study in 245 Han Chinese ulcerative colitis (UC) patients and 300 controls examined six known UC susceptibility loci. The authors identified IL2 SNP rs2069762 (P=7.0×10⁻⁴, OR=1.54, 95% CI 1.20-1.99) and IL21 SNP rs2055979 (P=1.2×10⁻⁴, OR=1.50, 95% CI 1.17-1.92) as independently associated with UC, demonstrating that unlike in Caucasians, IL2 and IL21 occupy separate linkage disequilibrium blocks in Han Chinese populations. They also identified rs17375018 in IL23R associated with disease extent (pancolitis; P=0.002, OR=2.38, 95% CI 1.41-4.02).

Traits studied:Inflammatory bowel diseaseUlcerative colitisUlcerative colitis with pancolitis
PubMedDOIMetascience Observatory

About ECM1

This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Feb 2011]

View all ECM1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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