Variant "IL1B:c.-511T>C"
Search result: 1 record
Variant information
Gene:
IL1B 
Variant:
IL1B:c.-511T>C 
Genomic location:
chr2:113594867(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000576.2:c.-1061T>C
IL1B-IL37:n.113594867A>G
dbSNP ID:
rs16944  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Alzheimer's Disease (DOID_10652)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    The interleukin 1beta gene promoter polymorphism (-511) acts as a risk factor for psychosis in Alzheimer's dementia
    Reference:
    PMID15236409
    Title:
    The interleukin 1beta gene promoter polymorphism (-511) acts as a risk factor for psychosis in Alzheimer's dementia.
    Species studied:
    Human
    Abstract:
    The explanation for why some patients develop psychotic change in Alzheimer's disease (AD) is unclear. Psychosis-modifier genes may act in the setting of neurodegeneration to produce AD plus psychosis in a similar way to how genetic modulation during neurodevelopment leads to schizophrenia. Because there is increasing interest in the common disruption of cytokine pathways seen in both AD and schizophrenia, we tested the association between the functional interleukin-1beta -511 promoter polymorphism with delusions and hallucinations in AD. Significant associations between psychotic symptoms and the CC genotype (p = 0.001 - p = 0.043) and C allele (p = 0.014 vs p = 0.048) were found, thus confirming the previously noted increased risk in schizophrenia.