Gene "ATP5F1A"
Found 1 record
Gene information
Gene symbol:
ATP5F1A
See related:
Ensembl: ENSG00000152234, Gene ID: 498
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:
    ATP5F1A:c.-3678C>T
    Gene:
    ATP5F1A
    Genomic location:
    chr18:43680700
    dbSNP ID:
    rs2578189
    Target disease:
    Familial Adenomatous Polyposis(DOID_0050424)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    HR=13.79, 95% CI:2.36-80.64, P=0.004 
    Effect:
    SNP rs2578189 were at increased risk of CRC
    Reference:
    PMID24373140
    Title:
    The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients.
    Species studied:
    Human
    Abstract:
    Familial adenomatous polyposis (FAP) is usually characterised by the appearance of hundreds-to-thousands of adenomas throughout the colon and rectum and if left untreated the condition will develop into CRC with close to 100% penetrance. Germline mutations in the APC gene, which plays an integral role in the Wnt-signalling pathway, have been found to be responsible for 70-90% of FAP cases. Several studies suggest that modifier genes may play an important role in the development of CRC and possible modifiers for FAP have been suggested. Interestingly, a study has found that SNPs within ATP5A1 is associated with raised levels of ATP5A1 expression and high expression levels may facilitate CRC development. We aimed to determine if SNPs in ATP5A1 modify the risk of developing CRC/adenomas in FAP patients.