PhenoModifier-Variant Detail

Variant "SMAD6:c.-5066T>C"

Search result: 1 record

Variant information

Gene:

SMAD6

Variant:

SMAD6:c.-5066T>C

Genomic location:

chr15:66990531(hg19)

HGVS:

dbSNP ID:

rs5014202

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=0.0324

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.