Variant "SLC22A5:rs2631370"
Search result: 1 record
Variant information
Gene:
SLC22A5 
Variant:
SLC22A5:rs2631370 
dbSNP ID:
rs2631370  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered gene activity(1)  
Detail：
  • Target disease:
    Crohn's Disease (DOID_8778)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered gene activity 
    Evidence:
    Gene activity study 
    Effect:
    A common promoter haplotype of OCTN2 regulates the transcriptional rate of OCTN2 and influences the clinical course of CD.
    Reference:
    PMID26965072
    Title:
    Identification of OCTN2 variants and their association with phenotypes of Crohn's disease in a Korean population.
    Species studied:
    Human
    Abstract:
    Crohn's disease (CD) is a chronic inflammatory bowel disease and a genetic variant in the OCTN2, g.-207G>C is significantly associated with CD susceptibility. This study was aimed to identify novel OCTN2 functional promoter variants and their roles in transcriptional regulation using various in vitro assays. In addition, we investigated the association between OCTN2 genotypes and CD through genetic analysis using DNA samples from 193 patients with CD and 281 healthy controls. Among the three major promoter haplotypes of OCTN2 identified, one haplotype, H3, showed a significant decrease in promoter activity: two polymorphisms in H3 were associated with a significant reduction in promoter activity. In particular, we found that the reduced transcriptional activity of those two polymorphisms results from a reduction in the binding affinity of the activators, NF-E2 and YY1, to the OCTN2 promoter. The functional haplotype of the OCTN2 promoter was associated with clinical course of CD such as the disease behavior and need for surgery. However, genetic variants or haplotypes of OCTN2 did not affect the susceptibility to CD. Our results suggest that a common promoter haplotype of OCTN2 regulates the transcriptional rate of OCTN2 and influences the clinical course of CD.