Gene "BMPR1B"
Found 6 records
Gene information
Gene symbol:
BMPR1B
See related:
Ensembl: ENSG00000138696, Gene ID: 658
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
6 
Disorder:
2 
Vriant:
6 
Reference:
2 
Effect type:
Expressivity(6)  
Modifier effect:
Altered renal function(4) ,Risk factor(2)  
Details：
  • Variant 1:
    BMPR1B:c.74-5331A>G
    Gene:
    BMPR1B
    Genomic location:
    chr4:96020228
    dbSNP ID:
    rs1560909
    Target disease:
    Sickle Cell Anemia(DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=2.15, 95% CI: (1.10 – 4.22), P= 0.0263 
    Effect:
    The TGF-beta/BMP signalling pathway modulates wound healing and angiogenesis, among its other functions.
    Reference:
    PMID16681647
    Title:
    Sickle cell leg ulcers: associations with haemolysis and SNPs in Klotho, TEK and genes of the TGF-beta/BMP pathway.
    Species studied:
    Human
    Abstract:
    Cutaneous leg ulcers are common in sickle cell anaemia and their risk might be genetically determined. Sickle cell anaemia patients were studied to examine the relationship of leg ulcers with haemolysis and with single nucleotide polymorphisms (SNPs) in candidate genes that could affect sickle vasoocclusion. Leg ulcer patients had lower haemoglobin levels and higher levels of lactate dehydrogenase, bilirubin, aspartate transaminase and reticulocytes than did control patients with sickle cell anaemia but without leg ulcers. Age-adjusted comparisons showed that sickle cell anaemia-alpha thalassaemia was more frequent among controls than cases. These results strongly suggested that the likelihood of having leg ulcers was related to the intensity of haemolysis. 215 SNPs in more than 100 candidate genes were studied. Associations were found with SNPs in Klotho, TEK and several genes in the TGF-beta/BMP signalling pathway by genotypic association analyses. KL directly or indirectly promotes endothelial nitric oxide (NO) production and the TEK receptor tyrosine kinase is involved in angiogenesis. The TGF-beta/BMP signalling pathway modulates wound healing and angiogenesis, among its other functions. Haemolysis-driven phenotypes, such as leg ulcers, could be improved by agents that reduce sickle erythrocyte density or increase NO bioavailability.
  • Variant 2:
    BMPR1B:c.233+3337C>T
    Gene:
    BMPR1B
    Genomic location:
    chr4:96029055
    dbSNP ID:
    rs7661539
    Target disease:
    Sickle Cell Anemia(DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=1.41, 95% CI: (1.02 – 1.96), P= 0.0389 
    Effect:
    The TGF-beta/BMP signalling pathway modulates wound healing and angiogenesis, among its other functions.
    Reference:
    PMID16681647
    Title:
    Sickle cell leg ulcers: associations with haemolysis and SNPs in Klotho, TEK and genes of the TGF-beta/BMP pathway.
    Species studied:
    Human
    Abstract:
    Cutaneous leg ulcers are common in sickle cell anaemia and their risk might be genetically determined. Sickle cell anaemia patients were studied to examine the relationship of leg ulcers with haemolysis and with single nucleotide polymorphisms (SNPs) in candidate genes that could affect sickle vasoocclusion. Leg ulcer patients had lower haemoglobin levels and higher levels of lactate dehydrogenase, bilirubin, aspartate transaminase and reticulocytes than did control patients with sickle cell anaemia but without leg ulcers. Age-adjusted comparisons showed that sickle cell anaemia-alpha thalassaemia was more frequent among controls than cases. These results strongly suggested that the likelihood of having leg ulcers was related to the intensity of haemolysis. 215 SNPs in more than 100 candidate genes were studied. Associations were found with SNPs in Klotho, TEK and several genes in the TGF-beta/BMP signalling pathway by genotypic association analyses. KL directly or indirectly promotes endothelial nitric oxide (NO) production and the TEK receptor tyrosine kinase is involved in angiogenesis. The TGF-beta/BMP signalling pathway modulates wound healing and angiogenesis, among its other functions. Haemolysis-driven phenotypes, such as leg ulcers, could be improved by agents that reduce sickle erythrocyte density or increase NO bioavailability.
  • Variant 3:
    BMPR1B:c.-18+22449A>G
    Gene:
    BMPR1B
    Genomic location:
    chr4:95939734
    dbSNP ID:
    rs17022863
    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.
  • Variant 4:
    BMPR1B:c.-14667T>C
    Gene:
    BMPR1B
    Genomic location:
    chr4:96010909
    dbSNP ID:
    rs1434549
    Target disease:
    Kidney Disease(EFO_0003086)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered renal function 
    Evidence:
    P=0.0352 
    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.
  • Variant 5:
    BMPR1B:c.-113+34369T>C
    Gene:
    BMPR1B
    Genomic location:
    chr4:95831420
    dbSNP ID:
    rs2240036
    Target disease:
    Kidney Disease(EFO_0003086)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered renal function 
    Evidence:
    P=0.011 
    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.
  • Variant 6:
    BMPR1B:c.-109297T>C
    Gene:
    BMPR1B
    Genomic location:
    chr4:95916279
    dbSNP ID:
    rs4145993
    Target disease:
    Kidney Disease(EFO_0003086)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered renal function 
    Evidence:
    P=0.0109 
    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.