Gene "CASP1"
Found 2 records
Gene information
Gene symbol:
CASP1
See related:
Ensembl: ENSG00000137752, Gene ID: 834
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
2 
Disorder:
1 
Vriant:
2 
Reference:
1 
Effect type:
Expressivity(2)  
Modifier effect:
Altered IL-1 beta production levels(2)  
Details：
  • Variant 1:
    CASP1:c.5352A
    Gene:
    CASP1
    Genomic location:
    dbSNP ID:
    Target disease:
    Mental Deterioration(HP:0001268)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered IL-1 beta production levels 
    Evidence:
    P<0.02 
    Effect:
    Subjects carrying the variants 10643C and 5352A allele had significantly lower IL-1 beta production levels, The haplotype with two variants present (10643C and 5352A) was associated with better executive function compared to the reference haplotype without variants.
    Reference:
    PMID18304957
    Title:
    Genetic variation in the interleukin-1 beta-converting enzyme associates with cognitive function. The PROSPER study.
    Species studied:
    Human
    Abstract:
    Inflammation is thought to play an important role in the development of cognitive decline and dementia in old age. The interleukin-1 signalling pathway may play a prominent role in this process. The gene encoding for interleukin-1 beta-converting enzyme (ICE) is likely to influence IL-1 beta levels. Inhibition of ICE decreases the age-related increase in IL-1 beta levels and may therefore improve memory function. We assessed whether genetic variation in the ICE gene associates with cognitive function in an elderly population. All 5804 participants of the PROspective Study of Pravastatin in the Elderly at Risk (PROSPER) were genotyped for the 10643GC, 9323GA, 8996AG and 5352GA polymorphisms in the ICE gene. Cross-sectional associations between the polymorphisms and cognitive function were assessed with linear regression. Longitudinal associations between polymorphisms, haplotypes and cognitive function were assessed with linear mixed models. All associations were adjusted for sex, age, education, country, treatment with pravastatin and version of test where appropriate. Subjects carrying the variants 10643C and 5352A allele had significantly lower IL-1 beta production levels (P < 0.01). Furthermore, we demonstrated that homozygous carriers of the 10643C and the 5352A allele performed better on all executive function tests at baseline and during follow-up compared to homozygous carriers of the wild-type allele (all P < 0.02). The haplotype with two variants present (10643C and 5352A) was associated with better executive function (all P < 0.02) compared to the reference haplotype without variants. For memory function the same trend was observed, although not significant. Genetic variation in the ICE gene is associated with better performance on cognitive function and lower IL-1 beta production levels. This suggests that low levels of IL-1 beta are protective for memory and learning deficits. Inhibition of ICE may therefore be an important therapeutic target for maintaining cognitive function in old age.
  • Variant 2:
    CASP1:c.10643C
    Gene:
    CASP1
    Genomic location:
    dbSNP ID:
    Target disease:
    Mental Deterioration(HP:0001268)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered IL-1 beta production levels 
    Evidence:
    P<0.02 
    Effect:
    Subjects carrying the variants 10643C and 5352A allele had significantly lower IL-1 beta production levels, The haplotype with two variants present (10643C and 5352A) was associated with better executive function compared to the reference haplotype without variants.
    Reference:
    PMID18304957
    Title:
    Genetic variation in the interleukin-1 beta-converting enzyme associates with cognitive function. The PROSPER study.
    Species studied:
    Human
    Abstract:
    Inflammation is thought to play an important role in the development of cognitive decline and dementia in old age. The interleukin-1 signalling pathway may play a prominent role in this process. The gene encoding for interleukin-1 beta-converting enzyme (ICE) is likely to influence IL-1 beta levels. Inhibition of ICE decreases the age-related increase in IL-1 beta levels and may therefore improve memory function. We assessed whether genetic variation in the ICE gene associates with cognitive function in an elderly population. All 5804 participants of the PROspective Study of Pravastatin in the Elderly at Risk (PROSPER) were genotyped for the 10643GC, 9323GA, 8996AG and 5352GA polymorphisms in the ICE gene. Cross-sectional associations between the polymorphisms and cognitive function were assessed with linear regression. Longitudinal associations between polymorphisms, haplotypes and cognitive function were assessed with linear mixed models. All associations were adjusted for sex, age, education, country, treatment with pravastatin and version of test where appropriate. Subjects carrying the variants 10643C and 5352A allele had significantly lower IL-1 beta production levels (P < 0.01). Furthermore, we demonstrated that homozygous carriers of the 10643C and the 5352A allele performed better on all executive function tests at baseline and during follow-up compared to homozygous carriers of the wild-type allele (all P < 0.02). The haplotype with two variants present (10643C and 5352A) was associated with better executive function (all P < 0.02) compared to the reference haplotype without variants. For memory function the same trend was observed, although not significant. Genetic variation in the ICE gene is associated with better performance on cognitive function and lower IL-1 beta production levels. This suggests that low levels of IL-1 beta are protective for memory and learning deficits. Inhibition of ICE may therefore be an important therapeutic target for maintaining cognitive function in old age.