PhenoModifier-Gene Detail

Gene "SPP1"

Found 9 records

Gene information

Gene symbol:

SPP1

See related:

Ensembl: ENSG00000118785, Gene ID: 6696

Additive variants :

Undetected

Genetic interaction partners

No data

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Expressivity(6) ,Penetrance(3)

Modifier effect:

Altered incidence(3) ,Risk factor(3) ,Altered severity(2) ,Altered grip strength(1)

Details：

Variant 1:

SPP1:c.256-425A>G

Gene:

SPP1

Genomic location:

chr4:88902202

dbSNP ID:

rs6532040

Target disease:

Multiple Sclerosis(DOID_2377)

Effect type:

Expressivity

Modifier effect:

Altered severity

Evidence:

P=0.009884

Effect:

SNPs rs6721763 of the ITGA4 and rs6532040 of the SPP1 were found to significantly influence disease severity

Reference:

PMID28473999

Title:

Gene variants of adhesion molecules act as modifiers of disease severity in MS.

Species studied:

Human

Abstract:

To assess the potential effect of variants in genes encoding molecules that are implicated in leukocyte trafficking into the CNS on the clinical phenotype of multiple sclerosis (MS).
Variant 2:

SPP1:c.244_245insTG

Gene:

SPP1

Genomic location:

dbSNP ID:

Target disease:

Pseudoxanthoma Elasticum(DOID_2738)

Effect type:

Penetrance

Modifier effect:

Altered incidence

Evidence:

From review article

Effect:

SPP1 promoter polymorphisms be a potential protective genetic co-factor in PXE

Reference:

PMID23802012

Title:

New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers.

Species studied:

Human

Abstract:

Screening of the adenosine triphosphate binding cassette transporter protein subfamily C member 6 gene (ABCC6) in pseudoxanthoma elasticum (PXE) revealed a mutation detection rate of approximately 87%. Although 25% of the unidentified disease alleles underlie deletions/insertions, there remain several PXE patients with no clear genotype. The recent identification of PXE-related diseases and the high intra-familiar and inter-individual clinical variability of PXE led to the assumption that secondary genetic co-factors exist. Here, we summarize current knowledge of the genetics underlying PXE and PXE-related disorders based on human and animal studies. Furthermore, we discuss the role of genetic interactions and modifier genes in PXE and PXE-related diseases characterized by soft tissue calcification.
Variant 3:

SPP1:c.244_245insTG

Gene:

SPP1

Genomic location:

dbSNP ID:

Target disease:

Pseudoxanthoma Elasticum(DOID_2738)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

OR=1.97, 95% CI: (1.23-3.15), P<0.05

Effect:

Polymorphisms in the SPP1 promoter are secondary genetic risk factors contributing to PXE susceptibility.

Reference:

PMID17384004

Title:

SPP1 promoter polymorphisms: identification of the first modifier gene for pseudoxanthoma elasticum.

Species studied:

Human

Abstract:

Progressive calcification and fragmentation of elastic fibers are characteristic hallmarks of pseudoxanthoma elasticum (PXE), which is caused by mutations in ABCC6 encoding multidrug resistance-associated protein 6 (MRP6). Because of the great clinical variability of PXE, secondary genetic risk factors are suspected to exist. We investigated whether SPP1 (secreted phosphoprotein 1; previously OPN, osteopontin) promoter polymorphisms are associated with PXE.
Variant 4:

SPP1:c.155_156insG

Gene:

SPP1

Genomic location:

dbSNP ID:

Alias:

SPP1:c.-155_156insG

Target disease:

Pseudoxanthoma Elasticum(DOID_2738)

Effect type:

Penetrance

Modifier effect:

Altered incidence

Evidence:

From review article

Effect:

SPP1 promoter polymorphisms be a potential protective genetic co-factor in PXE

Reference:

PMID23802012

Title:

New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers.

Species studied:

Human

Abstract:

Screening of the adenosine triphosphate binding cassette transporter protein subfamily C member 6 gene (ABCC6) in pseudoxanthoma elasticum (PXE) revealed a mutation detection rate of approximately 87%. Although 25% of the unidentified disease alleles underlie deletions/insertions, there remain several PXE patients with no clear genotype. The recent identification of PXE-related diseases and the high intra-familiar and inter-individual clinical variability of PXE led to the assumption that secondary genetic co-factors exist. Here, we summarize current knowledge of the genetics underlying PXE and PXE-related disorders based on human and animal studies. Furthermore, we discuss the role of genetic interactions and modifier genes in PXE and PXE-related diseases characterized by soft tissue calcification.
Variant 5:

SPP1:c.155_156insG

Gene:

SPP1

Genomic location:

dbSNP ID:

Alias:

SPP1:c.-155_156insG

Target disease:

Pseudoxanthoma Elasticum(DOID_2738)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

OR=2.41, 95% CI: (1.51-3.82), P<0.05

Effect:

Polymorphisms in the SPP1 promoter are secondary genetic risk factors contributing to PXE susceptibility.

Reference:

PMID17384004

Title:

SPP1 promoter polymorphisms: identification of the first modifier gene for pseudoxanthoma elasticum.

Species studied:

Human

Abstract:

Progressive calcification and fragmentation of elastic fibers are characteristic hallmarks of pseudoxanthoma elasticum (PXE), which is caused by mutations in ABCC6 encoding multidrug resistance-associated protein 6 (MRP6). Because of the great clinical variability of PXE, secondary genetic risk factors are suspected to exist. We investigated whether SPP1 (secreted phosphoprotein 1; previously OPN, osteopontin) promoter polymorphisms are associated with PXE.
Variant 6:

SPP1:c.-2074T>G

Gene:

SPP1

Genomic location:

chr4:88896797

dbSNP ID:

rs28357094

Alias:

SPP1:rs28357094, SPP1:c.-2074T>G

Target disease:

Duchenne Muscular Dystrophy(DOID_11723)

Effect type:

Expressivity

Modifier effect:

Altered severity

Evidence:

More rapid progression (padova cohort log rank P=0.003), and 12%-19% less grip strength (cinrg cohort P=0.0003)

Effect:

Osteopontin genotype is a genetic modifier of disease severity in Duchenne dystrophy.

Reference:

PMID21178099

Title:

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy.

Species studied:

Human

Abstract:

Duchenne muscular dystrophy (DMD) is the most common single-gene lethal disorder. Substantial patient-patient variability in disease onset and progression and response to glucocorticoids is seen, suggesting genetic or environmental modifiers.
Variant 7:

SPP1:c.-2074T>G

Gene:

SPP1

Genomic location:

chr4:88896797

dbSNP ID:

rs28357094

Alias:

SPP1:rs28357094, SPP1:c.-2074T>G

Target disease:

Duchenne Muscular Dystrophy(DOID_11723)

Effect type:

Expressivity

Modifier effect:

Altered grip strength

Evidence:

From review article

Effect:

Patients with the G allele at rs28357094 performed less well on the North Star Ambulatory Assessment (NSAA) and 6-Minute Walk Test (6MWT) measures

Reference:

PMID26263473

Title:

Modifier genes and their effect on Duchenne muscular dystrophy.

Species studied:

Human

Abstract:

Recently, genetic pathways that modify the clinical severity of Duchenne muscular dystrophy (DMD) have been identified. The pathways uncovered as modifiers are useful to predict prognosis and also elucidate molecular signatures that can be manipulated therapeutically.
Variant 8:

SPP1:c.-1748A>G

Gene:

SPP1

Genomic location:

dbSNP ID:

Alias:

SPP1:c.-1748G

Target disease:

Pseudoxanthoma Elasticum(DOID_2738)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

OR=2.16, 95% CI: (1.34-3.48), P<0.05

Effect:

Polymorphisms in the SPP1 promoter are secondary genetic risk factors contributing to PXE susceptibility.

Reference:

PMID17384004

Title:

SPP1 promoter polymorphisms: identification of the first modifier gene for pseudoxanthoma elasticum.

Species studied:

Human

Abstract:

Progressive calcification and fragmentation of elastic fibers are characteristic hallmarks of pseudoxanthoma elasticum (PXE), which is caused by mutations in ABCC6 encoding multidrug resistance-associated protein 6 (MRP6). Because of the great clinical variability of PXE, secondary genetic risk factors are suspected to exist. We investigated whether SPP1 (secreted phosphoprotein 1; previously OPN, osteopontin) promoter polymorphisms are associated with PXE.
Variant 9:

SPP1:c.-1748A>G

Gene:

SPP1

Genomic location:

dbSNP ID:

Alias:

SPP1:c.-1748G

Target disease:

Pseudoxanthoma Elasticum(DOID_2738)

Effect type:

Penetrance

Modifier effect:

Altered incidence

Evidence:

From review article

Effect:

SPP1 promoter polymorphisms be a potential protective genetic co-factor in PXE

Reference:

PMID23802012

Title:

New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers.

Species studied:

Human

Abstract:

Screening of the adenosine triphosphate binding cassette transporter protein subfamily C member 6 gene (ABCC6) in pseudoxanthoma elasticum (PXE) revealed a mutation detection rate of approximately 87%. Although 25% of the unidentified disease alleles underlie deletions/insertions, there remain several PXE patients with no clear genotype. The recent identification of PXE-related diseases and the high intra-familiar and inter-individual clinical variability of PXE led to the assumption that secondary genetic co-factors exist. Here, we summarize current knowledge of the genetics underlying PXE and PXE-related disorders based on human and animal studies. Furthermore, we discuss the role of genetic interactions and modifier genes in PXE and PXE-related diseases characterized by soft tissue calcification.