PhenoModifier-Variant Detail

Variant "BMPR1B:c.233+3337C>T"

Search result: 1 record

Variant information

Gene:

BMPR1B

Variant:

BMPR1B:c.233+3337C>T

Genomic location:

chr4:96029055(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_001256793.1:c.233+3337C>T
protein_coding	NM_001203.2:c.143+3337C>T
protein_coding	NM_001256792.1:c.143+3337C>T
protein_coding	NM_001256794.1:c.143+3337C>T

dbSNP ID:

rs7661539

GWAS trait:

no data

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Risk factor(1)

Detail：

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.