rs3018362

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GWAS Catalog Trait Associations (1)

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

osteitis deformans

Albagha OM et al. “Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.” Nature Genetics 43(7):685-9 (2011)
Allele A
OR 1.45
p 8.0e-21
N 3,440
Large GWAS
European
Albagha OM et al. “Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.” Nature Genetics 42(6):520-4 (2010)
Allele A
OR 1.52
p 5.0e-13
N 1,693
Large GWAS
European
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Research that mentions this SNP (1)

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Analyses of RANK and RANKL in the Post-GWAS Context: Functional Evidence of Vitamin D Stimulation Through a RANKL Distal Region
AssociationN=518Guy Yoskovitz et al.(2013)· Journal of Bone and Mineral Research

This genetic association study examined four SNPs in the RANK/RANKL/OPG signaling pathway in 518 elite athletes (125 with stress fractures, 376 controls). rs3018362 (RANK) and rs1021188 (RANKL) were significantly associated with stress fracture injury (p=0.008 and p=0.024, respectively). rs1021188 homozygotes were 2.93-fold more likely to have stress fractures (OR 2.93, 95% CI 1.18-7.28). In multiple stress fracture analysis, rs4355801 (OPG) carriers showed increased risk (OR 2.05). The RANK/RANKL/OPG pathway appears to contribute to stress fracture susceptibility in elite athletes.

Traits studied:Multiple stress fracturesStress fracture in elite athletesStress fracture injury
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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