PhenoModifier-Variant Detail

Variant "BMPR1B:c.-18+22449A>G"

Search result: 1 record

Variant information

Gene:

BMPR1B

Variant:

BMPR1B:c.-18+22449A>G

Genomic location:

chr4:95939734(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_001203.2:c.-18+22449A>G
protein_coding	NM_001256792.1:c.-18+22199A>G

dbSNP ID:

rs17022863

GWAS trait:

no data

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Altered renal function(1)

Detail：

Target disease:

Kidney Disease (EFO_0003086)

Effect type:

Expressivity

Modifier effect:

Altered renal function

Evidence:

P=0.0434

Effect:

Our results suggest that, as with other subphenotypes of sickle cell disease, renal function may be genetically modulated.

Reference:

PMID17034027

Title:

Estimated glomerular filtration rate in sickle cell anemia is associated with polymorphisms of bone morphogenetic protein receptor 1B.

Species studied:

Human

Abstract:

Renal disease is common in sickle cell anemia. In this exploratory work, we used data from a longitudinal study of the natural history of sickle cell disease to examine the hypothesis that polymorphisms (SNPs) in selected candidate genes are associated with glomerular filtration rate (GFR). DNA samples and clinical and laboratory data were available for 1,140 patients with sickle cell anemia. GFR was estimated using the Cockcroft-Gault and Schwartz formulas for adults and children, respectively. We examined approximately 175 haplotype tagging (ht) SNPs in about 70 genes of the TGFbeta/BMP pathway for their association with GFR using linear regression. Four SNPs in BMPR1B, a bone morphogenetic protein (BMP) receptor gene, yielded statistically significant associations (P values ranging from 0.015 to 0.046). Three haplotypes in this gene were also associated with GFR. The TGF-beta/BMP pathway has been associated with the development of diabetic nephropathy, which has some features in common with sickle cell nephropathy. Our results suggest that, as with other subphenotypes of sickle cell disease, renal function may be genetically modulated.