Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28357094
rs28357094
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
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
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
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
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
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
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
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
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
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
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
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
CUI: C0009402
Disease: Colorectal Carcinoma
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: rs1126616
rs1126616
CUI: C0451641
Disease: Urolithiasis
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: rs1126616
rs1126616
CUI: C0009402
Disease: Colorectal Carcinoma
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
CUI: C0451641
Disease: Urolithiasis
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: rs1126616
rs1126616
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.020 GeneticVariation BEFREE A silent polymorphism (707C>T, rs1126616) of osteopontin was significantly associated with SLE. 11933203

2002

dbSNP: rs11439060
rs11439060
CUI: C0003873
Disease: Rheumatoid Arthritis
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
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.020 GeneticVariation BEFREE Patients with RA in the ESPOIR cohort underwent genotyping for SPP1 rs9138 and rs11439060. 24936586

2014

dbSNP: rs1370031102
rs1370031102
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
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: rs1370031102
rs1370031102
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.020 GeneticVariation BEFREE A silent polymorphism (707C>T, rs1126616) of osteopontin was significantly associated with SLE. 11933203

2002

dbSNP: rs9138
rs9138
CUI: C0009402
Disease: Colorectal Carcinoma
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: rs9138
rs9138
CUI: C0003873
Disease: Rheumatoid Arthritis
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
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.020 GeneticVariation BEFREE The SPP1 rs9138 variant contributes to joint damage progression in ACPA-negative RA. 24936586

2014

dbSNP: rs9138
rs9138
CUI: C0027651
Disease: Neoplasms
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: rs9138
rs9138
CUI: C0027651
Disease: Neoplasms
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: rs9138
rs9138
CUI: C0009402
Disease: Colorectal Carcinoma
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
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.010 GeneticVariation BEFREE The frequency of the minor TT/CT genotypes of rs1126616 was significantly higher in I</span>gAN patients compared to controls (P = 0.0217). 31159229

2019

dbSNP: rs1126616
rs1126616
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.010 GeneticVariation BEFREE We found that the rs1126616 single nucleotide polymorphism (SNP) of the <i>SPP1</i> gene is independently associated with a higher incidence of CVE in a cohort of CKD patients and that it could be used to predict CVE risk. 31036794

2019

dbSNP: rs1126616
rs1126616
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 GeneticVariation BEFREE Our findings suggest a significant role played by OPN (rs9138 and rs1126616) in colorectal carcinogenesis. 28095066

2017

dbSNP: rs1126616
rs1126616
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.010 GeneticVariation BEFREE We found an association between rs1126616 and global CP (corrected allelic P = 0.0006 and genotypic P = 0.0011 after Bonferroni correction). 27114095

2016