rs4988300
This is a intron variant variant in the LRP5 gene.
▶Research that mentions this SNP (1)
▶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 StudyAssociationN=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.
About LRP5
This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
View all LRP5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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