rs3740129

This is a variant in the CHST3 gene that changes a arginine to an glutamine.

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GWAS Catalog Trait Associations (2)

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

total hip arthroplasty, osteoarthritis

Boer CG et al. “Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.” Cell 184(18):4784-4818.e17 (2021)

Allele A

OR 1.08

p 2.0e-11

N 319,037

Large GWAS

European

osteoarthritis, hip

Henkel C et al. “Genome-wide association meta-analysis of knee and hip osteoarthritis uncovers genetic differences between patients treated with joint replacement and patients without joint replacement.” Annals of the Rheumatic Diseases 82(3):384-392 (2023)

Allele A

OR 1.07

p 1.0e-9

N 646,831

Meta-analysisLarge GWAS

European

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ClinVar annotation

Benign★★★☆

9 submitters2 publications

Larsen syndrome (LRS); Skeletal dysplasia; Spondyloepiphyseal dysplasia congenita (SEDC); Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD); not specified

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About CHST3

This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]