rs12901499

This is a regulatory region variant variant in the SMAD3 gene.

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GWAS Catalog Trait Associations (1)

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

hip geometry

Faber BG et al. “The genetic architecture of hip shape and its role in the development of hip osteoarthritis and fracture.” Human Molecular Genetics 34(3):207-217 (2025)
Allele A
OR 0.05
p 2.0e-13
N 43,485
Large GWAS
multi-ancestry
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Research that mentions this SNP (2)

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Association between SMAD3 gene rs12901499 polymorphism and knee osteoarthritis in a Chinese population
AssociationN=750Li Zhang et al.(2018)· Journal of Clinical Laboratory Analysis

This hospital-based case-control study of 350 knee osteoarthritis patients and 400 controls in a Chinese population examined the association between SMAD3 rs12901499 polymorphism and knee OA risk. The GG genotype showed protective effects compared to AA genotype (OR=0.66, 95% CI 0.44-0.99, P=0.047), but stratified analyses by sex and age did not confirm this association, suggesting the SNP may not interact with these demographic factors.

Traits studied:hand osteoarthritiship osteoarthritisknee osteoarthritisspinal degenerative osteoarthritistemporomandibular joint osteoarthritis
PubMedDOIMetascience Observatory
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Genetic variation in the SMAD3 gene is associated with hip and knee osteoarthritis
AssociationN=206Ana M. Valdes et al.(2010)· Arthritis &amp; Rheumatism

This Japanese cohort study of 206 elderly women (mean age 69.7 years) from the Obuse registry investigated associations between genetic variants and osteoarthritis (OA) prevalence. LRP5 rs3736228 showed significant associations with knee/hip OA (OR 7.28, 95% CI 2.22-28.08) and osteoporosis (OR 5.24, 95% CI 0.95-26.98). MTHFR rs1801133 showed a protective association with knee OA prevalence (OR 0.58, 95% CI 0.35-0.97). Other variants (LRP5 rs312009, GDF5 rs143383, SMAD3 rs12901499) showed no significant associations.

Traits studied:Hip osteoarthritisKnee osteoarthritisOsteoarthritisOsteoporosis
PubMedDOIMetascience Observatory

About SMAD3

The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming growth factor-beta signaling pathway, and transmits signals from the cell surface to the nucleus, regulating gene activity and cell proliferation. This protein forms a complex with other SMAD proteins and binds DNA, functioning both as a transcription factor and tumor suppressor. Mutations in this gene are associated with aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3. [provided by RefSeq, May 2022]

View all SMAD3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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