PhenoModifier-Variant Detail

Variant "SPP1:c.-2074T>G"

Search results: 2 records

Variant information

Gene:

SPP1

Variant:

SPP1:c.-2074T>G

Genomic location:

chr4:88896797(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_001251830.1:c.-2074T>G
protein_coding	NM_000582.2:c.-1251T>G
protein_coding	NM_001040058.1:c.-1251T>G
protein_coding	NM_001040060.1:c.-1251T>G
protein_coding	NM_001251829.1:c.-1251T>G
	MEPE-SPP1:n.88896797T>G
show all

Alias:

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

dbSNP ID:

rs28357094

GWAS trait:

no data

Modifier statisitcs

Record:

2

Disorder:

1

Reference:

2

Effect type:

Expressivity(2)

Modifier effect:

Altered grip strength(1) ,Altered severity(1)

Details：

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.

Alias in reference:

SPP1:c.-2074T>G

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.
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

Alias in reference:

SPP1:rs28357094

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.