rs1569198

This is a upstream gene variant variant in the DKK1 gene.

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Research that mentions this SNP (2)

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Genetic Association Study of Dickkopf-1 and Sclerostin Genes with Paget Disease of Bone
AssociationN=536Mariejka Beauregard et al.(2013)· Calcified Tissue International

Genetic association study of DKK1 and SOST genes in 239 French-Canadian Paget disease of bone (PDB) patients and 297 controls. Three rare DKK1 variants were identified (including p.R120L, a conserved arginine alteration). A weak association was found with DKK1 Tag SNP rs1569198 (G allele: 42% in cases vs. 49% in controls, P=0.03, OR=0.77, 95% CI 0.61-0.98), suggesting a possible protective effect. No associations were found in the SOST gene.

Traits studied:Paget disease of bone
PubMedDOIMetascience Observatory
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Common Genetic Variation in the DKK1 Gene is Associated with Hip Axis Length but not with Bone Mineral Density and Bone Turnover Markers in Young Adult Men: Results from the Odense Androgen Study
AssociationN=783Elke Piters et al.(2010)· Calcified Tissue International

A population-based candidate gene study of 783 young Danish men examining associations between DKK1 polymorphisms and bone phenotypes. The study found no association between DKK1 variants and bone mineral density (BMD) or bone turnover markers, but identified a significant association between rs1569198 and hip axis length (HAL, P=0.012; P=0.004 in nonsedentary men), with each minor allele increasing HAL by 0.74-0.96 mm. The association with HAL was independent of BMD and height, suggesting a potential effect on hip fracture risk.

Traits studied:Bone mineral density (BMD)Bone turnover markersHip axis length (HAL)Hip fracture riskHip geometryOsteoporosis
PubMedDOIMetascience Observatory

About DKK1

This gene encodes a member of the dickkopf family of proteins. Members of this family are secreted proteins characterized by two cysteine-rich domains that mediate protein-protein interactions. The encoded protein binds to the LRP6 co-receptor and inhibits beta-catenin-dependent Wnt signaling. This gene plays a role in embryonic development and may be important in bone formation in adults. Elevated expression of this gene has been observed in numerous human cancers and this protein may promote proliferation, invasion and growth in cancer cell lines. [provided by RefSeq, Sep 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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