rs3884606

This variant is located in the FGF18 gene.

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GWAS Catalog Trait Associations (1)

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

osteoarthritis, hip, osteoarthritis, knee

Boer CG et al. “Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.” Cell 184(18):4784-4818.e17 (2021)
Allele A
OR 0.96
p 9.0e-10
N 490,345
Large GWAS
multi-ancestry
Tachmazidou I et al. “Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.” Nature Genetics 51(2):230-236 (2019)
Allele A
OR 1.04
p 8.0e-9
N 417,596
Major Consortium StudyLarge GWAS
European
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Research that mentions this SNP (1)

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A large‐scale replication study for the association of rs17039192 in HIF‐2α with knee osteoarthritis
AssociationN=595Masahiro Nakajima et al.(2012)· Journal of Orthopaedic Research

Candidate gene study of 4 SNPs in Russian population replicating GWAS-significant variants associated with stage 4 knee osteoarthritis. The A allele of rs6499244 in NFAT5 was identified as a risk factor for knee osteoarthritis in additive (OR=1.61, p=0.02) and recessive (OR=2.07, p=0.02) models. Functional analysis shows rs6499244 is located in DNase-hypersensitive regions and enhancers, associated with expression of 9 genes including NFAT5 itself.

Traits studied:Knee osteoarthritisStage 4 knee osteoarthritis
PubMedDOIMetascience Observatory

About FGF18

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. It has been shown in vitro that this protein is able to induce neurite outgrowth in PC12 cells. Studies of the similar proteins in mouse and chick suggested that this protein is a pleiotropic growth factor that stimulates proliferation in a number of tissues, most notably the liver and small intestine. Knockout studies of the similar gene in mice implied the role of this protein in regulating proliferation and differentiation of midline cerebellar structures. [provided by RefSeq, Jul 2008]

View all FGF18 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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