SPP1, secreted phosphoprotein 1, 6696

N. diseases: 824; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017638
Disease: Glioma
Glioma 		0.600 GeneticVariation disease BEFREE We found significant evidence of an association between SPP1 promoter polymorphisms and glioma risk. 20505679 2010
CUI: C0017638
Disease: Glioma
Glioma 		0.600 GeneticVariation disease BEFREE Polymorphism -433 C>T of the Osteopontin gene is associated with the susceptibility to develop gliomas and their prognosis in a Chinese cohort. 25277531 2014
CUI: C0017638
Disease: Glioma
Glioma 		0.600 GeneticVariation disease BEFREE We also isolated and sequenced three types of splice variants in OPN from human glioma cell lines through polymerase chain reaction. 7837791 1995
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.600 GeneticVariation disease BEFREE These results are the first to demonstrate the existence of T-593A promoter polymorphism of the OPN gene and significant association with risk of developing nephrolithiasis. 21044748 2010
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.600 GeneticVariation disease BEFREE SPP1 polymorphisms were found to be associated with nephrolithiasis and it may be suggested that SPP1 gene polymorphism could be a useful marker for evaluation of the early genetic risk factor in childhood nephrolithiasis. 23235966 2012
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 GeneticVariation disease BEFREE A silent polymorphism (707C>T, rs1126616) of osteopontin was significantly associated with SLE. 11933203 2002
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 GeneticVariation disease BEFREE In humans, typing of the +1239A/C single nucleotide polymorphism (SNP) in the 3UTR of the Opn gene (SPP1) showed that +1239C carriers displayed higher Opn serum levels than +1239A homozygotes and a higher risk of developing autoimmune/lymphoproliferative syndrome, multiple sclerosis, and systemic lupus erythematosus. 20378012 2010
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 GeneticVariation disease BEFREE Our data suggest that, unlike the reported effect of the OPN SNP conferring predisposition to common diseases such as multiple sclerosis or systemic lupus erythematosus, these OPN gene polymorphisms do not contribute to RA susceptibility in the Spanish population we studied. 15742429 2005
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 GeneticVariation disease BEFREE Conclusions Our meta-analysis revealed a significantly higher circulating OPN level in SLE patients, a trend of positive correlation between OPN levels and SLE activity, and a significant association between OPN 1239 C/A and 9250 C/T polymorphisms, and SLE development. 27307447 2017
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 GeneticVariation disease BEFREE We can speculate that these sequence variants (or others in perfect linkage disequilibrium) create a predisposition to high production of OPN, and that this in turn may confer susceptibility to SLE. 15692970 2005
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 GeneticVariation disease BEFREE This study provides a biologic relevance for OPN variants at the protein level, and suggests an influence of this gene on the IFN-alpha pathway in SLE. 19339987 2009
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 GeneticVariation disease BEFREE OPN TT genotype and T allele were significantly detected in SLE patients more than controls (P = 0.003, P < 0.001 respectively). 30898714 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 GeneticVariation disease 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
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 GeneticVariation disease BEFREE OPN gene 9250 polymorphism appears to be associated with susceptibility to SLE in Chinese Han ethnic population. 18167187 2007
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 GeneticVariation disease LHGDN A silent polymorphism (707C>T, rs1126616) of osteopontin was significantly associated with SLE. 11933203 2002
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 GeneticVariation disease BEFREE Using SWV, detection and quantification limits (1.3 ± 0.1 and 3.9 ± 0.4 nM) within the OPN plasma levels reported for patients with breast cancer (0.4-4.5 nM) or with metastatic or recurrent breast cancer (0.9-8.4 nM) were found. 28916037 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 GeneticVariation disease BEFREE Here we show that breast cancer cells express multiple splice variants of osteopontin. 16288209 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 GeneticVariation disease BEFREE Although basal transcription repression was impaired and the pro-metastatic protein osteopontin was differentially down-regulated by BRMS1(L174D) and BRMS1(DeltaCC1), both down-regulated the epidermal growth factor receptor and suppressed metastasis in MDA-MB-231 and -435 breast cancer xenograft models. 18211900 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 GeneticVariation disease BEFREE In human primary breast cancer, BRCA1 mutation is significantly associated with OPN overexpression. 16807234 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 GeneticVariation disease BEFREE Osteopontin splice variants are differential predictors of breast cancer treatment responses. 27400751 2016
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.400 GeneticVariation phenotype BEFREE As part of our ongoing studies to characterize molecular alterations in a well-defined series of surgically resected esophageal cancers, we examined the expression of 2 ras-regulated genes, whose products (osteopontin and cathepsin L) previously were shown to be associated with tumor invasion and metastasis. 9311587 1997
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.400 GeneticVariation phenotype BEFREE The biological functions and representative deregulated genes include cell proliferation (AIM2, FAP, TNFSF13B, TMPRSS11A); signal transduction (FOLR2, MME, HTR3B); invasion and metastasis (SPP1, TNFAIP6, EPHB6); differentiation (CLEC4A, ELF5); angiogenesis (CXCL1); apoptosis (GLIPR1, WISP1, DAPL1); and immune responses (CD300A, IFIT2, TREM2); and metabolism (NNMT; ALDH3A1). 25663065 2015
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.400 GeneticVariation phenotype BEFREE This study provides the first evidence that variation at nt -443 in the OPN promoter increases the potential for gastric cancer metastasis and subsequent death in the Chinese population. 23072570 2012
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.400 GeneticVariation phenotype BEFREE For each 50 units increment of serum OPN, an increased risk of metastasis by 69 % (unadjusted HR 1.69, 95 % CI 1.12-2.56, p = 0.01) and an increased risk of death by 95 % (unadjusted HR 1.95, 95 % CI 1.15-3.32, p = 0.01) were observed. 27422280 2016
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.400 GeneticVariation phenotype BEFREE We investigated the possible mechanisms of osteopontin splicing variant and its role in EMT and cancer metastasis using NSCLC cell line and cell and molecular biology techniques. 31832019 2019