Variant "MAPK11:c.-1628C>T"
Search result: 1 record
Variant information
Gene:
MAPK11 
Variant:
MAPK11:c.-1628C>T 
Genomic location:
chr22:50710349(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_002751.6:c.-1628C>T
pseudogene NR_110887.1:n.-1527C>T
protein_coding NM_012401.3:c.*3784C>T
MAPK11-PLXNB2:n.50710349G>A
dbSNP ID:
rs2235356  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Colorectal Cancer (DOID_9256)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=1.99; 95% CI: 1.60-2.47; P<0.0001 
    Effect:
    This allelic variant may be a genetic modifier for CRC susceptibility.
    Reference:
    PMID23946768
    Title:
    A genetic variation of the p38β promoter region is correlated with an increased risk of sporadic colorectal cancer.
    Species studied:
    Human
    Abstract:
    p38 plays a critical role in the proliferation, survival, migration and metastasis of colorectal cancer (CRC) cells. The present study assessed the correlation between a single nucleotide polymorphism (SNP) in the p38β promoter region (rs2235356, -1628A>G) and the predisposition of individuals to sporadic CRC in a case-control study. A genotyping method was developed to detect this SNP, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. A logistic regression analysis was used to determine the odds ratio (OR) and 95% confidence interval (CI). It was revealed that the -1628G variant allele was correlated with an increased risk of CRC (OR, 1.99; 95% CI, 1.60-2.47; P<0.0001). An in silico analysis revealed several transcription factors that either acquired or lost the ability to bind to -1628AA in the p38β promoter region due to the SNP. Therefore, this allelic variant may be a genetic modifier for CRC susceptibility.