Gene "GCLM"
Found 7 records
Gene information
Gene symbol:
GCLM
See related:
Ensembl: ENSG00000023909, Gene ID: 2730
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
7 
Disorder:
3 
Vriant:
2 
Reference:
4 
Effect type:
Expressivity(7)  
Modifier effect:
Risk factor(6) ,Altered endothelial NO bioactivity(1)  
Details：
  • Variant 1:
    GCLM:c.588C>T
    Gene:
    GCLM
    Genomic location:
    chr1:94375309
    dbSNP ID:
    rs41303970
    Alias:
    GCLM:-588C/T, GCLM:c.-588C>T
    Target disease:
    Asthma(DOID_2841)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=0.33, 95% CI; 0.15-0.70, P=0.036 
    Effect:
    The -588TT/-23TT genotype was found to be associated with decreased risk of allergic asthma after adjustment for age, gender and smoking status using multivariate logistic regression analysis (OR=0.33 95% CI 0.15-0.70, p=0.036)
    Reference:
    PMID17643973
    Title:
    The relationship between polymorphisms in the glutamate cysteine ligase gene and asthma susceptibility.
    Species studied:
    Human
    Abstract:
    The present study was designed to investigate an association of common -588C/T and -23G/T polymorphisms within glutamate cysteine ligase modifier subunit gene with susceptibility to bronchial asthma. A total of 435 ethnically Russian subjects were recruited in this study, including 221 patients with asthma and 214 sex and age matched healthy subjects. As previously reported, the -588C/T and -23G/T polymorphisms were completely linked. The -588TT/-23TT genotype was found to be associated with decreased risk of allergic asthma after adjustment for age, gender and smoking status using multivariate logistic regression analysis (OR=0.33 95% CI 0.15-0.70, p=0.036). However, the -588CT/-23GT genotype was associated with increased risk of non-allergic asthma (OR=2.03 95% CI 1.05-3.90, p=0.06). This is a first study reporting the association between genetic variations in the glutamate cysteine ligase gene and susceptibility to bronchial asthma.
  • Variant 2:
    GCLM:c.588C>T
    Gene:
    GCLM
    Genomic location:
    chr1:94375309
    dbSNP ID:
    rs41303970
    Alias:
    GCLM:-588C/T, GCLM:c.-588C>T
    Target disease:
    Asthma(DOID_2841)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=2.03, 95% CI: 1.05-3.90, P=0.06 
    Effect:
    The -588CT/-23GT genotype was associated with increased risk of non-allergic asthma (OR=2.03 95% CI 1.05-3.90, p=0.06)
    Reference:
    PMID17643973
    Title:
    The relationship between polymorphisms in the glutamate cysteine ligase gene and asthma susceptibility.
    Species studied:
    Human
    Abstract:
    The present study was designed to investigate an association of common -588C/T and -23G/T polymorphisms within glutamate cysteine ligase modifier subunit gene with susceptibility to bronchial asthma. A total of 435 ethnically Russian subjects were recruited in this study, including 221 patients with asthma and 214 sex and age matched healthy subjects. As previously reported, the -588C/T and -23G/T polymorphisms were completely linked. The -588TT/-23TT genotype was found to be associated with decreased risk of allergic asthma after adjustment for age, gender and smoking status using multivariate logistic regression analysis (OR=0.33 95% CI 0.15-0.70, p=0.036). However, the -588CT/-23GT genotype was associated with increased risk of non-allergic asthma (OR=2.03 95% CI 1.05-3.90, p=0.06). This is a first study reporting the association between genetic variations in the glutamate cysteine ligase gene and susceptibility to bronchial asthma.
  • Variant 3:
    GCLM:c.588C>T
    Gene:
    GCLM
    Genomic location:
    chr1:94375309
    dbSNP ID:
    rs41303970
    Alias:
    GCLM:-588C/T, GCLM:c.-588C>T
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered endothelial NO bioactivity 
    Evidence:
    Gene activity study 
    Effect:
    The -588T polymorphism of the GCLM gene causes a decrease in endothelial NO bioactivity, leading to impairment of endothelium-dependent vasomotor function in large and resistance coronary arteries.
    Reference:
    PMID12975258
    Title:
    Polymorphism in glutamate-cysteine ligase modifier subunit gene is associated with impairment of nitric oxide-mediated coronary vasomotor function.
    Species studied:
    Human
    Abstract:
    The minor -588T allele of polymorphism -588C/T of a modifier subunit gene in glutamate-cysteine ligase (GCLM), a rate-limiting enzyme for glutathione (GSH) synthesis, was associated with lower plasma GSH levels and was a risk factor for myocardial infarction.
  • Variant 4:
    GCLM:c.588C>T
    Gene:
    GCLM
    Genomic location:
    chr1:94375309
    dbSNP ID:
    rs41303970
    Alias:
    GCLM:-588C/T, GCLM:c.-588C>T
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=3.92, P=0.003 
    Effect:
    The two promoter polymorphisms of GCLM (-588C/T) and GCLC (-128T/C) are associated with an increased risk of IHD in Kazakhstan population.
    Reference:
    PMID28757675
    Title:
    Association of GCLM -588C/T and GCLC -129T/C Promoter Polymorphisms of Genes Coding the Subunits of Glutamate Cysteine Ligase with Ischemic Heart Disease Development in Kazakhstan Population.
    Species studied:
    Human
    Abstract:
    Glutamate cysteine ligase (GCL) is a rate-limiting enzyme in synthesis of glutathione. Evidence suggests that genetic variations in the promoter region of genes coding a catalytic subunit (GCLC -129T/C) and a modifier subunit (GCLM -588C/T) of GCL have a functional impact on their transcriptional activity and were associated with various disorders. Hence, we hypothesize whether these two polymorphic variants of GCLM and GCLC genes are associated with the risk of ischemic heart disease (IHD) development in the population of Kazakhstan.
  • Variant 5:
    GCLM:c.588C>T
    Gene:
    GCLM
    Genomic location:
    chr1:94375309
    dbSNP ID:
    rs41303970
    Alias:
    GCLM:-588C/T, GCLM:c.-588C>T
    Target disease:
    Myocardial Infarction(DOID_5844)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    CT and T genotypes: 31.5% in MI group versus 19.2% in control group; p<0.001 
    Effect:
    The 588T polymorphism of the GCLM gene may suppress GCLM gene induction in response to oxidants and that it is a genetic risk factor for MI
    Reference:
    PMID12081989
    Title:
    Polymorphism in the 5'-flanking region of human glutamate-cysteine ligase modifier subunit gene is associated with myocardial infarction.
    Species studied:
    Human
    Abstract:
    Human glutamate-cysteine ligase (GCL) is a rate-limiting enzyme for the synthesis of glutathione that plays a crucial role in antioxidant defense mechanisms in most mammalian cells, including vascular cells. Oxidants transcriptionally upregulate GCL genes for glutathione synthesis, providing a protective mechanism against oxidative stress-induced cellular dysfunction. This study examined the hypothesis that variation in the GCL genes may be associated with coronary artery disease in which oxidative stress plays a pathogenetic role.
  • Variant 6:
    GCLM:-23G/T
    Gene:
    GCLM
    Genomic location:
    chr1:94374742
    dbSNP ID:
    rs743119
    Target disease:
    Asthma(DOID_2841)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=0.33, 95% CI: 0.15-0.70, P=0.036 
    Effect:
    The -588TT/-23TT genotype was found to be associated with decreased risk of allergic asthma after adjustment for age, gender and smoking status using multivariate logistic regression analysis (OR=0.33 95% CI 0.15-0.70, p=0.036)
    Reference:
    PMID17643973
    Title:
    The relationship between polymorphisms in the glutamate cysteine ligase gene and asthma susceptibility.
    Species studied:
    Human
    Abstract:
    The present study was designed to investigate an association of common -588C/T and -23G/T polymorphisms within glutamate cysteine ligase modifier subunit gene with susceptibility to bronchial asthma. A total of 435 ethnically Russian subjects were recruited in this study, including 221 patients with asthma and 214 sex and age matched healthy subjects. As previously reported, the -588C/T and -23G/T polymorphisms were completely linked. The -588TT/-23TT genotype was found to be associated with decreased risk of allergic asthma after adjustment for age, gender and smoking status using multivariate logistic regression analysis (OR=0.33 95% CI 0.15-0.70, p=0.036). However, the -588CT/-23GT genotype was associated with increased risk of non-allergic asthma (OR=2.03 95% CI 1.05-3.90, p=0.06). This is a first study reporting the association between genetic variations in the glutamate cysteine ligase gene and susceptibility to bronchial asthma.
  • Variant 7:
    GCLM:-23G/T
    Gene:
    GCLM
    Genomic location:
    chr1:94374742
    dbSNP ID:
    rs743119
    Target disease:
    Asthma(DOID_2841)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=2.03, 95% CI: 1.05-3.90, P=0.06 
    Effect:
    The -588CT/-23GT genotype was associated with increased risk of non-allergic asthma (OR=2.03 95% CI 1.05-3.90, p=0.06)
    Reference:
    PMID17643973
    Title:
    The relationship between polymorphisms in the glutamate cysteine ligase gene and asthma susceptibility.
    Species studied:
    Human
    Abstract:
    The present study was designed to investigate an association of common -588C/T and -23G/T polymorphisms within glutamate cysteine ligase modifier subunit gene with susceptibility to bronchial asthma. A total of 435 ethnically Russian subjects were recruited in this study, including 221 patients with asthma and 214 sex and age matched healthy subjects. As previously reported, the -588C/T and -23G/T polymorphisms were completely linked. The -588TT/-23TT genotype was found to be associated with decreased risk of allergic asthma after adjustment for age, gender and smoking status using multivariate logistic regression analysis (OR=0.33 95% CI 0.15-0.70, p=0.036). However, the -588CT/-23GT genotype was associated with increased risk of non-allergic asthma (OR=2.03 95% CI 1.05-3.90, p=0.06). This is a first study reporting the association between genetic variations in the glutamate cysteine ligase gene and susceptibility to bronchial asthma.