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 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 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: 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