Variant "TGFBR3:c.2330-956G>A"
Search results: 2 records
Variant information
Gene:
TGFBR3 
Variant:
TGFBR3:c.2330-956G>A 
Genomic location:
chr1:92162292(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_003243.4:c.2330-956G>A
protein_coding NM_001195683.1:c.2327-956G>A
pseudogene NR_036634.1:n.2942-956G>A
protein_coding NM_001195684.1:c.2327-956G>A
dbSNP ID:
rs2765888  
GWAS trait:
no data 
Modifier statisitcs
Record:
2 
Disorder:
1 
Reference:
2 
Effect type:
Expressivity(1) ,Pleiotropy(1)  
Modifier effect:
Bacteremia-prone phenotype(1) ,Risk factor(1)  
Details：
  • Target disease:
    Sickle Cell Anemia (DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Bayesian approach 
    Effect:
    31 SNPs in 12 genes interact with fetal hemoglobin to modulate the risk of stroke
    Reference:
    PMID15778708
    Title:
    Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia.
    Species studied:
    Human
    Abstract:
    Sickle cell anemia (SCA) is a paradigmatic single gene disorder caused by homozygosity with respect to a unique mutation at the beta-globin locus. SCA is phenotypically complex, with different clinical courses ranging from early childhood mortality to a virtually unrecognized condition. Overt stroke is a severe complication affecting 6-8% of individuals with SCA. Modifier genes might interact to determine the susceptibility to stroke, but such genes have not yet been identified. Using Bayesian networks, we analyzed 108 SNPs in 39 candidate genes in 1,398 individuals with SCA. We found that 31 SNPs in 12 genes interact with fetal hemoglobin to modulate the risk of stroke. This network of interactions includes three genes in the TGF-beta pathway and SELP, which is associated with stroke in the general population. We validated this model in a different population by predicting the occurrence of stroke in 114 individuals with 98.2% accuracy.
  • Target disease:
    Sickle Cell Anemia (DOID_10923)
    Effect type:
    Pleiotropy 
    Modifier effect:
    Bacteremia-prone phenotype 
    Evidence:
    P=0.0251 
    Effect:
    We suggest that both IGF1R and the TGF-beta /BMP pathway could play important roles in immune function in sickle cell anemia and their polymorphisms may help identify a bacteremia-prone phenotype.
    Reference:
    PMID16886151
    Title:
    Association of polymorphisms of IGF1R and genes in the transforming growth factor- beta /bone morphogenetic protein pathway with bacteremia in sickle cell anemia.
    Species studied:
    Human
    Abstract:
    Infection and bacteremia are common in sickle cell disease. We hypothesized that, consistent with evidence for the genetic modulation of other disease complications, the risk of developing bacteremia might also be genetically modulated. Accordingly, we studied the association of single nucleotide polymorphisms (SNPs) in candidate genes with the risk of bacteremia in sickle cell anemia. We found significant associations with SNPs in IGF1R and genes of the TGF-beta /BMP pathway (BMP6, TGFBR3, BMPR1A, SMAD6 and SMAD3). We suggest that both IGF1R and the TGF-beta /BMP pathway could play important roles in immune function in sickle cell anemia and their polymorphisms may help identify a bacteremia-prone phenotype.