Variant "TGFBR3:c.2167-75C>T"
Search result: 1 record
Variant information
Gene:
TGFBR3 
Variant:
TGFBR3:c.2167-75C>T 
Genomic location:
chr1:92174415(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_003243.4:c.2167-75C>T
protein_coding NM_001195683.1:c.2164-75C>T
pseudogene NR_036634.1:n.2779-75C>T
protein_coding NM_001195684.1:c.2164-75C>T
dbSNP ID:
rs2038931  
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=2.04, 95% CI: (1.04 – 4.07), P=0.0387 
    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.