PhenoModifier-Variant Detail

Variant "GSTP1:pV105I"

Search results: 3 records

Variant information

Gene:

GSTP1

Variant:

GSTP1:pV105I

Genomic location:

chr11:67352689(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_000852.3:c.313A>G(p.Ile105Val)

Alias:

GSTP1:313A>G, GSTP1:+313A>G

dbSNP ID:

rs1695

GWAS trait:

blood protein measurement

Modifier statisitcs

Record:

3

Disorder:

1

Reference:

3

Effect type:

Expressivity(3)

Modifier effect:

Altered severity(2) ,Risk factor(1)

Details：

Target disease:

Cystic fibrosis (DOID_1485)

Effect type:

Expressivity

Modifier effect:

Altered severity

Evidence:

Balance testing accuracy=0.6824, P=0.008

Effect:

Polymorphisms in genes associated with metabolism of GSH act on the CF's severity.

Alias in reference:

GSTP1:+313A>G

Reference:

PMID23758905

Title:

Genetic interaction of GSH metabolic pathway genes in cystic fibrosis.

Species studied:

Human

Abstract:

Cystic fibrosis (CF) is a monogenic disease caused by CFTR gene mutations, with clinical expression similar to complex disease, influenced by genetic and environmental factors. Among the possible modifier genes, those associated to metabolic pathways of glutathione (GSH) have been considered as potential modulators of CF clinical severity. In this way it is of pivotal importance investigate gene polymorphisms at Glutamate-Cysteine Ligase, Catalytic Subunit (GCLC), Glutathione S-transferase Mu 1 (GSTM1), Glutathione S-transferase Theta 1 (GSTT1), and Glutathione S-transferase P1 (GSTP1), which have been associated to the GSH metabolic pathway and CF clinical severity.
Target disease:

Cystic fibrosis (DOID_1485)

Effect type:

Expressivity

Modifier effect:

Altered severity

Evidence:

P=0.036

Effect:

CF severity is associated with polymorphisms in GSH pathways and CFTR mutations

Alias in reference:

GSTP1:313A>G

Reference:

PMID24593045

Title:

Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study.

Species studied:

Human

Abstract:

Cystic fibrosis (CF) clinically manifests with various levels of severity, which are thought to be modulated by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR), modifier genes, and the environment. This study verified whether polymorphisms in modifier genes associated with glutathione (GSH) metabolism influence CF severity.
Target disease:

Cystic fibrosis (DOID_1485)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

From review article

Effect:

The mutation associated with Gilbert syndrome represents a lithogenic risk factor for gallstone formation in CF

Alias in reference:

GSTP1:pV105I

Reference:

PMID20955961

Title:

Cystic fibrosis-associated liver disease.

Species studied:

Human

Abstract:

Liver disease is increasingly common in cystic fibrosis (CF). As new therapeutic options emerge, life expectancy increases and common hepatobiliary manifestations impact on quality of life and survival of CF patients. Hepatobiliary abnormalities in CF vary in nature and range from defects attributable to the underlying CFTR gene defect to those related to systemic disease and malnutrition. Today complications of liver disease represent the third most frequent cause of disease-related death in patients with CF. Here we review molecular and clinical genetics of CF, including genetic modifiers of CF-associated liver disease, and provide practical recommendations for genetic testing, diagnosis and treatment of hepatobiliary manifestations in CF.