rs4891159

This is a intron variant variant in the ZNF516 gene.

Research that mentions this SNP (1)

Gene-gene interaction between RBMS3 and ZNF516 influences bone mineral density
AssociationN=4,606Tie-Lin Yang et al.(2013)· Journal of Bone and Mineral Research

Gene-gene interaction study identifying pairwise SNP interactions influencing bone mineral density (BMD) in Caucasian and African samples. Discovery analysis in Kansas City (2,286) and Omaha (1,000) samples identified RBMS3 rs6549904 and rs7640046 interacting with ZNF516 rs4891159 with highly significant p-values (7.04×10⁻¹¹ and 1.03×10⁻¹⁰), with interaction ORs of 3.19-4.82. Replication in Framingham Heart Study confirmed findings (p=8.07×10⁻³ and p=2.91×10⁻³), though African American sample showed opposite directional effect, suggesting ancestry-dependent genetic architecture of osteoporosis.

Traits studied:bone mineral densityhip fracture riskosteoporosis

About ZNF516

Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a zinc-finger protein, and belongs to the krueppel C2H2-type zinc-finger protein family. It may be involved in transcriptional regulation. [provided by RefSeq, Sep 2012]

View all ZNF516 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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