Variant "ECE1:c.762+172G>A"
Search result: 1 record
Variant information
Gene:
ECE1 
Variant:
ECE1:c.762+172G>A 
Genomic location:
chr1:21585014(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001397.2:c.762+172G>A
protein_coding NM_001113347.1:c.726+172G>A
protein_coding NM_001113349.1:c.753+172G>A
protein_coding NM_001113348.1:c.714+172G>A
dbSNP ID:
rs212527  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Necrosis (EFO_0009426)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    Bone morphogenic protein 6, annexin A2, and klotho were associated with sickle cell osteonecrosis and at high risk for osteonecrosis.
    Reference:
    PMID15784727
    Title:
    Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis.
    Species studied:
    Human
    Abstract:
    In patients with sickle cell disease, clinical complications including osteonecrosis can vary in frequency and severity, presumably due to the effects of genes that modify the pathophysiology initiated by the sickle mutation. Here, we examined the association of single nucleotide polymorphisms (SNPs) in candidate genes (cytokines, inflammation, oxidant stress, bone metabolism) with osteonecrosis in patients with sickle cell disease. Genotype distributions were compared between cases and controls using multiple logistic regression techniques. An initial screen and follow-up studies showed that individual SNPs and haplotypes composed of several SNPs in bone morphogenic protein 6, annexin A2, and klotho were associated with sickle cell osteonecrosis. These genes are important in bone morphology, metabolism, and vascular disease. Our results may provide insight into the pathogenesis of osteonecrosis in sickle cell disease, help identify individuals who are at high risk for osteonecrosis, and thus allow earlier and more effective therapeutic intervention.