rs1126616

This is a synonymous variant in the SPP1 gene — it does not change the protein's amino acid sequence.

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Research that mentions this SNP (3)

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Germline polymorphisms in genes involved in the CD44 signaling pathway are associated with clinical outcome in localized gastric adenocarcinoma
AssociationN=137Thomas Winder et al.(2011)· International Journal of Cancer

Study of 137 gastric cancer patients identified CD44 polymorphisms rs187116 (+4883G>A) and rs7116432 (+779G>A) as independent prognostic markers for clinical outcomes. Patients carrying the favorable genotypes (A/A for rs187116 or G/G for rs7116432) showed significantly longer time to tumor recurrence and overall survival compared to those with other genotypes in univariate analysis. This finding supports the use of these CD44 variants for predicting therapeutic response in gastric cancer patients treated with surgical resection and adjuvant 5-fluorouracil therapy.

Traits studied:Gastric adenocarcinomaGastric cancerOverall survivalTime to tumor recurrence
PubMedDOIMetascience Observatory
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Replication of the association between the C8orf13–BLK region and systemic lupus erythematosus in a Japanese population
ReviewIkue 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.

Traits studied:Autoimmune Thyroid DiseaseCrohn's DiseaseDermatomyositisGiant Cell ArteritisGraves' DiseaseInflammatory Bowel DiseaseJuvenile Idiopathic ArthritisLupus NephritisMicroscopic PolyangiitisMultiple SclerosisPrimary Anti-Phospholipid SyndromePrimary Sjögren's SyndromePsoriasisRheumatoid ArthritisSclerodermaSystemic Lupus ErythematosusType 1 DiabetesUlcerative ColitisWegener's Granulomatosis
PubMedDOIMetascience Observatory
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An osteopontin (SPP1) polymorphism is associated with systemic lupus erythematosus
AssociationN=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.

Traits studied:Chronic kidney diseaseOsteopontin serum levels
PubMedDOIMetascience Observatory

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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