Variant "ATP5F1A:c.-3678C>T"
Search result: 1 record
Variant information
Gene:
ATP5F1A 
Variant:
ATP5F1A:c.-3678C>T 
Genomic location:
chr18:43680700(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_138443.3:c.-3678C>T
protein_coding NM_001001935.2:c.-8894G>A
protein_coding NM_001257334.1:c.-2503G>A
protein_coding NM_001257335.1:c.-8894G>A
protein_coding NM_004046.5:c.-2503G>A
pseudogene NR_026978.1:n.-3598C>T
protein_coding NM_001001937.1:c.-48-2455G>A
show all
dbSNP ID:
rs2578189  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • 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.