Variant "TGFBR3:c.2287+3512T>C"
Search results: 2 records
Variant information
Gene:
TGFBR3 
Variant:
TGFBR3:c.2287+3512T>C 
Genomic location:
chr1:92170708(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_003243.4:c.2287+3512T>C
protein_coding NM_001195683.1:c.2284+3512T>C
pseudogene NR_036634.1:n.2899+3512T>C
protein_coding NM_001195684.1:c.2284+3512T>C
dbSNP ID:
rs284875  
GWAS trait:
no data 
Modifier statisitcs
Record:
2 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(2)  
Modifier effect:
Risk factor(2)  
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:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Bayesian approach 
    Effect:
    ANXA2 (rs11853426),TEK (rs489347), and TGFBR3 (rs284875) variants were associated with increased stroke risk
    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.