rs1054627

This is a protein-altering variant in the IBSP gene.

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GWAS Catalog Trait Associations (1)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.01
p 1.0e-26
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
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Research that mentions this SNP (1)

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Quantitative genetic study of the circulating osteopontin in community-selected families
AssociationN=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).

Traits studied:Osteopontin (OPN) plasma levels
PubMedDOIMetascience Observatory

About IBSP

The protein encoded by this gene is a major structural protein of the bone matrix. It constitutes approximately 12% of the noncollagenous proteins in human bone and is synthesized by skeletal-associated cell types, including hypertrophic chondrocytes, osteoblasts, osteocytes, and osteoclasts. The only extraskeletal site of its synthesis is the trophoblast. This protein binds to calcium and hydroxyapatite via its acidic amino acid clusters, and mediates cell attachment through an RGD sequence that recognizes the vitronectin receptor. [provided by RefSeq, Jul 2008]

View all IBSP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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