Gene "APEX1"
Found 2 records
Gene information
Gene symbol:
APEX1
See related:
Ensembl: ENSG00000100823, Gene ID: 328
Additive variants :
Detected
Genetic interaction partners
No data
Modifier statisitcs
Record:
2 
Disorder:
2 
Vriant:
2 
Reference:
2 
Effect type:
Expressivity(2)  
Modifier effect:
Risk factor(1) ,Risk of respiratory failure or death(1)  
Details：
  • Variant 1:
    APEX1:rs3136820
    Gene:
    APEX1
    Genomic location:
    dbSNP ID:
    rs3136820
    Target disease:
    Breast Cancer(DOID_1612)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P<0.05 
    Effect:
    APE1 Asp148Glu(rs3136820) as a modifier of the background levels of abasic sites in human leukocytes derived from breast cancer patients and controls
    Reference:
    PMID27539671
    Title:
    Genetic polymorphisms in APE1 Asp148Glu(rs3136820) as a modifier of the background levels of abasic sites in human leukocytes derived from breast cancer patients and controls.
    Species studied:
    Human
    Abstract:
    Apurinic/apyrimidinic (abasic/AP) sites are among the most common endogenous DNA lesions. AP sites, if not repaired, could result in genomic instability as well as chromosome aberrations. Information regarding the direct assay of the number of abasic sites in human leukocytes and its association with risk of breast cancer has not been reported.
  • Variant 2:
    APEX1:rs200702900
    Gene:
    APEX1
    Genomic location:
    dbSNP ID:
    rs200702900
    Target disease:
    Amyotrophic Lateral Sclerosis(DOID_332)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk of respiratory failure or death 
    Evidence:
    After adjusting forother factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p=0.0098). 
    Effect:
    The presence of the rare variant was associated with the risk of ALS
    Reference:
    PMID28709720
    Title:
    Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.
    Species studied:
    Human
    Abstract:
    Genetic variants are implicated in the development of amyotrophic lateral sclerosis (ALS), but it is unclear whether the burden of rare variants in ALS genes has an effect on survival. We performed whole genome sequencing on 8 familial ALS (FALS) patients with superoxide dismutase 1 (SOD1) mutation and whole exome sequencing on 46 sporadic ALS (SALS) patients living in Hong Kong and found that 67% had at least 1 rare variant in the exons of 40 ALS genes; 22% had 2 or more. Patients with 2 or more rare variants had lower probability of survival than patients with 0 or 1 variant (p = 0.001). After adjusting for other factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p = 0.0098). The presence of the rare variant was associated with the risk of ALS (Odds ratio 1.91, 95% confidence interval 1.03-3.61, p = 0.03), and ALS patients had higher rare variant burden than controls (MB, p = 0.004). Our findings support an oligogenic basis with the burden of rare variants affecting the development and survival of ALS.