Variant "BMP6:c.665-4592T>A"
Search result: 1 record
Variant information
Gene:
BMP6 
Variant:
BMP6:c.665-4592T>A 
Genomic location:
chr6:7840781(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001718.5:c.665-4592T>A
dbSNP ID:
rs267188  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Pleiotropy(1)  
Modifier effect:
Bacteremia-prone phenotype(1)  
Detail：
  • Target disease:
    Sickle Cell Anemia (DOID_10923)
    Effect type:
    Pleiotropy 
    Modifier effect:
    Bacteremia-prone phenotype 
    Evidence:
    P=0.0401 
    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.