rs4233367

This is a protein-altering variant in the ADAMTS4 gene.

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GWAS Catalog Trait Associations (3)

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

vitrin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.11
p 2.0e-118
N 47,745
Large GWAS
European
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Research that mentions this SNP (1)

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Association betweenADAMTS-4gene polymorphism and lumbar disc degeneration in Chinese Han population
AssociationN=978Sen Liu et al.(2016)· Journal of Orthopaedic Research

This candidate gene association study investigated the association between ADAMTS-4 gene polymorphisms and lumbar disc degeneration (LDD) in 482 Chinese Han cases and 496 healthy controls. rs4233367 (c.1877 C>T), a missense variant in the ADAMTS-4 exon, showed significant association with LDD with the protective T allele conferring an OR of 0.69 (p=1.66×10⁻²). The TT genotype had a markedly lower risk (OR=0.21, p=3.74×10⁻²) compared to CC genotype, suggesting the variant influences ADAMTS-4 catalytic activity through effects on the cysteine-rich domain.

Traits studied:Low back painLumbar disc degeneration
PubMedDOIMetascience Observatory

About ADAMTS4

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene lacks a C-terminal TS motif. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The expression of this gene is upregulated in arthritic disease and this may contribute to disease progression through the degradation of aggrecan. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]

View all ADAMTS4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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