Variant "CASP8:c.-33678_-33673del"
Search results: 3 records
Variant information
Gene:
CASP8 
Variant:
CASP8:c.-33678_-33673del 
Genomic location:
chr2:202097532-202097537(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_033358.3:c.-33678_-33673del
protein_coding NM_001080124.1:c.-33678_-33673del
protein_coding NM_001228.4:c.-33678_-33673del
protein_coding NM_033355.3:c.-33678_-33673del
protein_coding NM_001206542.1:c.*3726_*3731del
protein_coding NM_032974.4:c.*3726_*3731del
CASP10-CASP8:n.202097532_202097537del
show all
dbSNP ID:
rs3834129  
GWAS trait:
no data 
Modifier statisitcs
Record:
3 
Disorder:
3 
Reference:
2 
Effect type:
Expressivity(3)  
Modifier effect:
Altered onset time(2) ,Risk factor(1)  
Details：
  • Target disease:
    Achilles Bursitis (DOID_12857)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.020, odds ratio: 0.45, 95% CI: 0.22-0.90 
    Effect:
    The CASP8 I-G (rs3834129-rs1045485) inferred allele combination was associated with increased risk of TEN
    Reference:
    PMID27541197
    Title:
    Polymorphisms within the COL5A1 gene and regulators of the extracellular matrix modify the risk of Achilles tendon pathology in a British case-control study.
    Species studied:
    Human
    Abstract:
    Several genetic loci have been associated with risk of Achilles tendon pathology (ATP) within South African and Australian populations. The aim of this study was, therefore, to evaluate eight previously implicated genetic variants in an independent British population. A total of 130 asymptomatic controls (CON) and 112 participants clinically diagnosed with ATP comprising 87 individuals with chronic Achilles tendinopathy (TEN) and 25 with Achilles tendon ruptures (RUP) were included. All participants were genotyped for variants within the COL5A1, MIR608, IL-1β, IL-6 and CASP8 genes. Primary findings implicated COL5A1 and CASP8. Three inferred allele combinations constructed from COL5A1 rs12722, rs3196378 and rs71746744 were identified as risk modifiers. The T-C-D combination was associated with increased risk of ATP (P=0.023) and RUP (P<0.001), the C-A-I combination was associated with increased risk of ATP (P=0.011), TEN (P=0.011) and RUP (P=0.011) and the C-C-D combination was associated with decreased risk of ATP (P=0.011) and RUP (P=0.004). The CASP8 rs3834129 DD genotype was associated with decreased risk of TEN (P=0.020, odds ratio: 0.45, 95% confidence interval: 0.22-0.90) and the CASP8 I-G (rs3834129-rs1045485) inferred allele combination was associated with increased risk of TEN (P=0.031). This study further highlights the importance of polymorphisms within COL5A1 and CASP8 in the aetiology of ATP.
  • Target disease:
    Breast Cancer (DOID_1612)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    Ten variants were found to be significantly associated with early onset cancer
    Reference:
    PMID26052370
    Title:
    Ten modifiers of BRCA1 penetrance validated in a Norwegian series.
    Species studied:
    Human
    Abstract:
    Common genetic variants have been shown to modify BRCA1 penetrance. The aim of this study was to validate these reports in a special cohort of Norwegian BRCA1 mutation carriers that were selected for their extreme age of onset of disease.
  • Target disease:
    Ovarian Cancer (DOID_2394)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    Ten variants were found to be significantly associated with early onset cancer
    Reference:
    PMID26052370
    Title:
    Ten modifiers of BRCA1 penetrance validated in a Norwegian series.
    Species studied:
    Human
    Abstract:
    Common genetic variants have been shown to modify BRCA1 penetrance. The aim of this study was to validate these reports in a special cohort of Norwegian BRCA1 mutation carriers that were selected for their extreme age of onset of disease.