Variant "NOS3:c.T-786C"
Search results: 3 records
Variant information
Gene:
NOS3 
Variant:
NOS3:c.T-786C 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
3 
Disorder:
1 
Reference:
2 
Effect type:
Expressivity(2) ,Dominance(1)  
Modifier effect:
Altered susceptibility(1) ,Heterozygote susceptibility(1) ,Risk factor(1)  
Details：
  • Target disease:
    Sickle Cell Anemia (DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered susceptibility 
    Evidence:
    P=0.0076, 95% CI: 1.761-42.920 
    Effect:
    ENOS T-786C is a gender-specific genetic modifier that is associated with increased susceptibility to ACS in female SCD patients.
    Reference:
    PMID14687036
    Title:
    Association of T-786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease.
    Species studied:
    Human
    Abstract:
    Acute chest syndrome (ACS) is a life-threatening complication of sickle cell disease (SCD). A retrospective study was performed to evaluate the role of endothelial nitric oxide synthase (eNOS) gene polymorphisms (E298D and T-786C) in African-American SCD patients. The D298 allele showed no association; the C-786 allele showed a statistically significant association (P = 0.0061) in female ACS cases. Multiple logistic regression analysis showed that relative risk of ACS was 8.695 (P = 0.0076, 95% confidence interval 1.761-42.920) for female carriers of C-786. eNOS T-786C is a gender-specific genetic modifier that is associated with increased susceptibility to ACS in female SCD patients.
  • Target disease:
    Sickle Cell Anemia (DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.015, OR=0.46, 95% CI: (0.25-0.86) 
    Effect:
    This retrospective study reveals that ET-1 T8002 and ecNOS C-786 alleles are associated with, respectively, an increased and a decreased risk of acute chest syndrome.
    Reference:
    PMID16956834
    Title:
    ET-1 and ecNOS gene polymorphisms andsusceptibility to acute chest syndrome and painful vaso-occlusive crises in children with sickle cell anemia.
    Species studied:
    Human
    Abstract:
    The association of endothelin 1 (ET-1) and endothelial constitutive nitric oxide synthase (ecNOS) gene polymorphisms (G5665T and T8002C, VNTR and T-786C respectively) with the occurrence of acute chest syndrome and painful vaso-occlusive crises was evaluated in homozygous SS children. This retrospective study reveals that ET-1 T8002 and ecNOS C-786 alleles are associated with, respectively, an increased and a decreased risk of acute chest syndrome.
  • Target disease:
    Sickle Cell Anemia (DOID_10923)
    Effect type:
    Dominance 
    Modifier effect:
    Heterozygote susceptibility 
    Evidence:
    P=0.018, OR=0.47, 95% CI: (0.21-0.84) 
    Effect:
    A lower incidence of ecNOS C-786 was observed in ACS+ than in ACS– patients, when both additive (OD=0.46,95% CI: 0.25 to 0.86, p=0.0153) and dominant (OD=0.47, 95% CI: 0.21 to 0.84, p=0.018) effects of the mutant allele were assumed.
    Reference:
    PMID16956834
    Title:
    ET-1 and ecNOS gene polymorphisms andsusceptibility to acute chest syndrome and painful vaso-occlusive crises in children with sickle cell anemia.
    Species studied:
    Human
    Abstract:
    The association of endothelin 1 (ET-1) and endothelial constitutive nitric oxide synthase (ecNOS) gene polymorphisms (G5665T and T8002C, VNTR and T-786C respectively) with the occurrence of acute chest syndrome and painful vaso-occlusive crises was evaluated in homozygous SS children. This retrospective study reveals that ET-1 T8002 and ecNOS C-786 alleles are associated with, respectively, an increased and a decreased risk of acute chest syndrome.