Gene "ITGA2"
Found 1 record
Gene information
Gene symbol:
ITGA2
See related:
Ensembl: ENSG00000164171, Gene ID: 3673
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Variant 1:
    ITGA2:c.1600G>A(p.Glu534Lys)
    Gene:
    ITGA2
    Genomic location:
    chr5:52358757
    dbSNP ID:
    rs1801106
    Target disease:
    Sickle Cell Anemia(DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.002; OR=2.94; 95% CI: 1.49-5.77 
    Effect:
    The polymorphisms are associated with Vaso‐occlusive crisis
    Reference:
    PMID19702628
    Title:
    Human platelet alloantigens (HPA) 1, HPA2, HPA3, HPA4, and HPA5 polymorphisms in sickle cell anemia patients with vaso-occlusive crisis.
    Species studied:
    Human
    Abstract:
    Vaso-occlusive crisis (VOC) is a significant cause of morbidity and mortality in sickle cell anemia (SCA) patients. Insofar as polymorphism in human platelet alloantigen (HPA) exhibit a prothrombotic nature, we hypothesized that specific HPA polymorphic variants are associated with VOC. We investigated the distribution of HPA1, HPA2, HPA3, HPA4, and HPA5 alleles genotypes among VOC and non-VOC control SCA patients.