rs11730582
This is a upstream gene variant variant in the SPP1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
corneal resistance factor
▶Research that mentions this SNP (2)
▶Replication of the association between the C8orf13–BLK region and systemic lupus erythematosus in a Japanese populationReviewIkue Ito et al.(2009)· Arthritis & Rheumatism
This comprehensive review examines genetic associations in type I interferon-related signaling pathways across multiple autoimmune diseases. The authors review evidence linking dysregulated interferon alpha (IFNα) signaling to systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and other autoimmune conditions, identifying multiple susceptibility genes including IFIH1, IRF5, STAT4, TYK2, BLK, BANK1, FCGR2A, and TREX1 with well-replicated associations and functional relevance to IFN pathway dysfunction.
▶An osteopontin (SPP1) polymorphism is associated with systemic lupus erythematosusAssociationN=4,897Forton AC et al.(2002)· Human Mutation
Genome-wide association study of osteopontin (OPN) levels in 4,897 European chronic kidney disease patients identified 3 genome-wide significant loci (p < 5.0E-08). Two loci replicated in the Young Finns Study: rs10011284 upstream of SPP1 (encoding OPN; beta = -0.10, p = 8.59e-11) and rs4253311 in KLKB1 (encoding prekallikrein; beta = -0.14, p = 5.29e-20). A third locus rs2731673 near F12/GRK6 did not replicate. Rare variant testing identified SPP1 as significant (p = 2.5E-8), implicating OPN genetics in chronic kidney disease pathophysiology.
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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