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: 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 A significant increase in OPN expression was observed in DMD myotubes carrying the TG compared to the TT genotype at rs28357094. 28595270 2017
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
dbSNP: rs4754
rs4754
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0027651
Disease:
Neoplasms
0.010 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: 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: rs1126772
rs1126772
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0027651
Disease:
Neoplasms
0.010 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: rs9138
rs9138
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE Data on rs7574865 in the STAT4 gene and rs9138 in SPP1 were replicated for associations with SLE when comparing cases and controls (corrected P values ranging from 0.0043 to 0.027). 24023622 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 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs9138
rs9138
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0010346
Disease:
Crohn Disease
0.010 GeneticVariation BEFREE Genomic DNA from 2819 Caucasian individuals (n = 841 patients with Crohn's disease (CD), n = 473 patients with ulcerative colitis (UC), and n = 1505 healthy unrelated controls) was analyzed for nine OPN SNPs (rs2728127, rs2853744, rs11730582, rs11739060, rs28357094, rs4754 = p.Asp80Asp, rs1126616 = p.Ala236Ala, rs1126772 and rs9138). 22242114 2011
dbSNP: rs2728127
rs2728127
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0010346
Disease:
Crohn Disease
0.010 GeneticVariation BEFREE Genomic DNA from 2819 Caucasian individuals (n = 841 patients with Crohn's disease (CD), n = 473 patients with ulcerative colitis (UC), and n = 1505 healthy unrelated controls) was analyzed for nine OPN SNPs (rs2728127, rs2853744, rs11730582, rs11739060, rs28357094, rs4754 = p.Asp80Asp, rs1126616 = p.Ala236Ala, rs1126772 and rs9138). 22242114 2011
dbSNP: rs4754
rs4754
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0010346
Disease:
Crohn Disease
0.010 GeneticVariation BEFREE Genomic DNA from 2819 Caucasian individuals (n = 841 patients with Crohn's disease (CD), n = 473 patients with ulcerative colitis (UC), and n = 1505 healthy unrelated controls) was analyzed for nine OPN SNPs (rs2728127, rs2853744, rs11730582, rs11739060, rs28357094, rs4754 = p.Asp80Asp, rs1126616 = p.Ala236Ala, rs1126772 and rs9138). 22242114 2011
dbSNP: rs9138
rs9138
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0009324
Disease:
Ulcerative Colitis
0.010 GeneticVariation BEFREE Genomic DNA from 2819 Caucasian individuals (n = 841 patients with Crohn's disease (CD), n = 473 patients with ulcerative colitis (UC), and n = 1505 healthy unrelated controls) was analyzed for nine OPN SNPs (rs2728127, rs2853744, rs11730582, rs11739060, rs28357094, rs4754 = p.Asp80Asp, rs1126616 = p.Ala236Ala, rs1126772 and rs9138). 22242114 2011
dbSNP: rs9138
rs9138
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C2931822
Disease:
Nasopharyngeal carcinoma
0.010 GeneticVariation BEFREE Haplotype analysis revealed that haplotype T-A-A-C of rs11730582, rs1126772, rs9138, and rs4754 was associated with NPC risk (OR = 0.49, 95%CI = 0.27-0.86). 24120738 2014
dbSNP: rs11730582
rs11730582
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0029410
Disease:
Osteoarthritis of hip
0.010 GeneticVariation BEFREE However, as for rs11730582 (T>C), the adjusted ORs were 1.18 (95% CI 0.94-1.49, P=0.148) for allele C, 1.26 (95% CI 0.90-1.75, P=0.158) for TC, and 1.31 (95% CI 0.77-2.24, P=0.293) for CC, indicating no association of rs11730582 with hip OA risk. 25796600 2015
dbSNP: rs9138
rs9138
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE In addition, a stronger association was observed between rs9138 (C/A) polymorphism and cancer risk. 26369832 2015
dbSNP: rs9138
rs9138
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE In addition, a stronger association was observed between rs9138 (C/A) polymorphism and cancer risk. 26369832 2015
dbSNP: rs11730582
rs11730582
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE In conclusion, this meta-analysis suggests that OPN rs17524488 (-156 GG/G), rs11730582 (-443 T/C), and rs9138 (C/A) polymorphisms may be associated with cancer susceptibility in the Chinese population. 26369832 2015
dbSNP: rs11730582
rs11730582
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE In conclusion, this meta-analysis suggests that OPN rs17524488 (-156 GG/G), rs11730582 (-443 T/C), and rs9138 (C/A) polymorphisms may be associated with cancer susceptibility in the Chinese population. 26369832 2015
dbSNP: rs17524488
rs17524488
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE In conclusion, this meta-analysis suggests that OPN rs17524488 (-156 GG/G), rs11730582 (-443 T/C), and rs91</span>38 (C/A) polymorphisms may be associated with cancer susceptibility in the Chinese population. 26369832 2015
dbSNP: rs17524488
rs17524488
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE In conclusion, this meta-analysis suggests that OPN rs17524488 (-156 GG/G), rs11730582 (-443 T/C), and rs91</span>38 (C/A) polymorphisms may be associated with cancer susceptibility in the Chinese population. 26369832 2015
dbSNP: rs4754
rs4754
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE In the case-control study, we found that rs4754-T allele, rs959173-C allele and rs2239144-G allele were the protective allele of NSCLC risk. 28148898 2017
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: 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