SPP1, secreted phosphoprotein 1, 6696

N. diseases: 824; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2853749
rs2853749
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0003868
Disease:
Arthritis, Gouty
0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs2853749
rs2853749
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0018099
Disease:
Gout
0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs2853749
rs2853749
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0003868
Disease:
Arthritis, Gouty
0.700 GeneticVariation GWASDB Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. 20884846 2010
dbSNP: rs2853749
rs2853749
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0018099
Disease:
Gout
0.700 GeneticVariation GWASDB Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. 20884846 2010
dbSNP: rs28357094
rs28357094
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne
0.050 GeneticVariation BEFREE A significant increase in OPN expression was observed in DMD myotubes carrying the TG compared to the TT genotype at rs28357094. 28595270 2017
dbSNP: rs28357094
rs28357094
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne
0.050 GeneticVariation BEFREE We aimed to determine if polymorphisms previously associated with age at loss of independent ambulation (LoA) in DMD (rs28357094 in the SPP1 promoter, rs10880 and the VTTT/IAAM haplotype in LTBP4) also modify DCM onset. 26513582 2015
dbSNP: rs28357094
rs28357094
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne
0.050 GeneticVariation BEFREE A promoter polymorphism of the osteopontin (OPN) gene (rs28357094) has been associated with multiple inflammatory states, severity of Duchenne muscular dystrophy (DMD) and muscle size in healthy young adults. 24626632 2014
dbSNP: rs28357094
rs28357094
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne
0.050 GeneticVariation BEFREE To dissect the molecular mechanisms of increased disease severity associated with the G allele, we characterized SPP1 mRNA and protein in DMD muscle biopsies of patients with defined rs28357094 genotype. 22431140 2012
dbSNP: rs28357094
rs28357094
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne
0.050 GeneticVariation BEFREE To test the effect of the single nucleotide polymorphism -66 T>G (rs28357094) in the osteopontin gene (SPP1) on functional measures over 12 months in Duchenne muscular dystrophy (DMD). 22744661 2012
dbSNP: rs1126616
rs1126616
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.020 GeneticVariation BEFREE The aim of the study was to investigate the association of genotypes and alleles frequencies of OPN 9250 (rs1126616) and IL-17A 197 (rs2275913) genes polymorphisms with their serum levels, susceptibility, disease activity and severity in Egyptian SLE patients. 30898714 2019
dbSNP: rs1126616
rs1126616
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.020 GeneticVariation BEFREE The C allele of OPN rs1126616 and the CC haplotype were significantly higher in CRC patient (p = 0.036, 0.003, respectively). 28095066 2017
dbSNP: rs1370031102
rs1370031102
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.020 GeneticVariation BEFREE While no association was found between SLE and the OPN 707 T/C and 1083 G/A polymorphisms, a significant association was identified between the OPN 1239 C allele and SLE (OR = 1.192, 95% CI = 1.008-1.410, p = 0.040), and between the OPN 9250 C allele and SLE in Asians (OR = 2.070, 95% CI = 1.570-2.730, p = 2.5 × 10<sup>-7</sup>). 27307447 2017
dbSNP: rs9138
rs9138
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.020 GeneticVariation BEFREE We investigated the association of the Osteopontin (OPN) (rs9138 and rs1126616) polymorphisms with colorectal cancer (CRC). 28095066 2017
dbSNP: rs1126616
rs1126616
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0451641
Disease:
Urolithiasis
0.020 GeneticVariation BEFREE Overall, a significantly increased risk of urolithiasis was associated with OPN gene polymorphism rs1126616 for all the genetic models except recessive model. 25785266 2015
dbSNP: rs11439060
rs11439060
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.020 GeneticVariation BEFREE We demonstrate a significant contribution of the combination of SPP1 rs11439060 and rs9138 frequent alleles to risk of RA, the magnitude of the association being greater in patients negative for ACPAs. 24448344 2015
dbSNP: rs9138
rs9138
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.020 GeneticVariation BEFREE We demonstrate a significant contribution of the combination of SPP1 rs11439060 and rs9138 frequent alleles to risk of RA, the magnitude of the association being greater in patients negative for ACPAs. 24448344 2015
dbSNP: rs11439060
rs11439060
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.020 GeneticVariation BEFREE Patients with RA in the ESPOIR cohort underwent genotyping for SPP1 rs9138 and rs11439060. 24936586 2014
dbSNP: rs9138
rs9138
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.020 GeneticVariation BEFREE The SPP1 rs9138 variant contributes to joint damage progression in ACPA-negative RA. 24936586 2014
dbSNP: rs9138
rs9138
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0027651
Disease:
Neoplasms
0.020 GeneticVariation BEFREE Clinical data indicated that rs4754 and rs9138 of OPN were significantly associated with smoking (P = 0.029, OR 0.343, 95 % CI 0.127-0.926 and P = 0.029, OR 0.343, 95 %CI 0.127-0.926) and OPN rs1126772 revealed associations with tumor-node-metastasis (TNM) stage (P = 0.025, OR 1.765, 95 % CI 1.073-2.905) and tumor differentiation (P = 0.031, OR 1.722, 95 % CI 1.049-2.825). 25009318 2014
dbSNP: rs1126616
rs1126616
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.020 GeneticVariation BEFREE Our results suggested that the rs9138 and rs1126616 of OPN were associated with CRC risk, and the OPN protein in plasma may be a potential tumor marker of CRC. 23952692 2013
dbSNP: rs1126616
rs1126616
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0451641
Disease:
Urolithiasis
0.020 GeneticVariation BEFREE Recently, OPN Ala250 (rs1126616) polymorphism and other single nucleotide polymorphisms (SNPs) have been studied to define their role in urolithiasis. 23692545 2013
dbSNP: rs9138
rs9138
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.020 GeneticVariation BEFREE Our results suggested that the rs9138 and rs1126616 of OPN were associated with CRC risk, and the OPN protein in plasma may be a potential tumor marker of CRC. 23952692 2013
dbSNP: rs9138
rs9138
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0027651
Disease:
Neoplasms
0.020 GeneticVariation BEFREE The purpose of the present study was to explore the association of rs9138 (+1239; 3'UTR: 3'untranslated regions) and rs1126616 (+750; exon 7) polymorphisms located in the OPN gene with colorectal carcinoma (CRC) susceptibility and to investigate the correlation of the polymorphisms, plasma levels of the OPN protein, clinicopathologic parameters, tumor markers, and lipid. 23952692 2013
dbSNP: rs1126616
rs1126616
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.020 GeneticVariation BEFREE A silent polymorphism (707C>T, rs1126616) of osteopontin was significantly associated with SLE. 11933203 2002
dbSNP: rs1370031102
rs1370031102
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.020 GeneticVariation BEFREE A silent polymorphism (707C>T, rs1126616) of osteopontin was significantly associated with SLE. 11933203 2002