Variant "SPP1:c.-1748A>G"
Search results: 2 records
Variant information
Gene:
SPP1 
Variant:
SPP1:c.-1748A>G 
Alias:
SPP1:c.-1748G 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
2 
Disorder:
1 
Reference:
2 
Effect type:
Expressivity(1) ,Penetrance(1)  
Modifier effect:
Altered incidence(1) ,Risk factor(1)  
Details：
  • 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.
    Alias in reference:
    SPP1:c.-1748A>G
    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.
  • 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
    Alias in reference:
    SPP1:c.-1748G
    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.