rs2830585

This variant is located in the ADAMTS5 gene.

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GWAS Catalog Trait Associations (4)

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

blood protein amount

Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)
Allele C
OR 1.08
p 1.0e-249
N 3,200
Large GWAS
European

a disintegrin and metalloproteinase with thrombospondin motifs 5 measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele T
OR 1.07
p 4.0e-104
N 997
Small GWAS
multi-ancestry
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 T
OR 0.85
p 1.0e-79
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele T
OR 0.02
p 8.0e-10
N 472,730
Large GWAS
East Asian

appendicular lean mass

Hernandez Cordero AI et al. “Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2.” American Journal of Human Genetics 105(6):1222-1236 (2019)
Allele T
OR 0.05
p 2.0e-8
N 181,862
Large GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (1)

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Genetic variation including nonsynonymous polymorphisms of a major aggrecanase, ADAMTS‐5, in susceptibility to osteoarthritis
AssociationN=5,000Julio Rodriguez‐Lopez et al.(2008)· Arthritis &amp; Rheumatism

This case-control study tested whether genetic variation in ADAMTS-5, particularly two nonsynonymous polymorphisms (rs226794 P692L and rs2830585 R614H), affects osteoarthritis susceptibility across multiple populations (Spanish, Greek, UK). Analysis of 8 SNPs (2 nsSNPs and 6 tagSNPs) in multiple OA collections found no significant associations with OA risk (rs226794 OR=0.73-0.97; rs2830585 showed no consistent effect), with results replicated across TKR, THR, and hand OA phenotypes. The study concluded that genetic variation in ADAMTS-5 does not substantially modify OA susceptibility despite the protein's role as the main aggrecanase in cartilage destruction.

Traits studied:Hand osteoarthritisOsteoarthritisTotal hip replacementTotal knee replacement
PubMedDOIMetascience Observatory

About ADAMTS5

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the 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 encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and functions as an aggrecanase that cleaves aggrecan, a major proteoglycan of cartilage, and may mediate cartilage destruction in osteoarthritis. [provided by RefSeq, Feb 2016]

View all ADAMTS5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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