rs10516799
This is a intron variant variant in the SPP1 gene.
▶Research that mentions this SNP (1)
▶Quantitative genetic study of the circulating osteopontin in community-selected familiesAssociationN=925Ermakov S. et al.(2011)· Osteoporosis International
A family-based genetic study of 925 Caucasian individuals examined the contribution of genetic factors to osteopontin (OPN) plasma levels. Variance component analysis showed that 58% of OPN variability is attributable to genetic factors. Three SNPs showed nominally significant associations with OPN levels, with rs2616262 in the IBSP promoter region being the most significant (p=0.003, remaining significant after multiple testing correction), and rs10516799 in the SPP1 3' UTR region also showing significant association (p=0.021).
About SPP1
The protein encoded by this gene is involved in the attachment of osteoclasts to the mineralized bone matrix. The encoded protein is secreted and binds hydroxyapatite with high affinity. The osteoclast vitronectin receptor is found in the cell membrane and may be involved in the binding to this protein. This protein is also a cytokine that upregulates expression of interferon-gamma and interleukin-12. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
View all SPP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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