CASP8, caspase 8, 841

N. diseases: 480; N. variants: 32
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C1762616
Disease:
Meningioma, benign, no ICD-O subtype
0.020 GeneticVariation BEFREE We tested the hypothesis that the CASP8 polymorphism D302H may influence risk of meningioma through analysis of five independent series of case patients and controls (n=631 and 637, respectively). 18823701 2009
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0278877
Disease:
Adult Meningioma
0.020 GeneticVariation BEFREE We tested the hypothesis that the CASP8 polymorphism D302H may influence risk of meningioma through analysis of five independent series of case patients and controls (n=631 and 637, respectively). 18823701 2009
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0025286
Disease:
Meningioma
0.020 GeneticVariation BEFREE We tested the hypothesis that the CASP8 polymorphism D302H may influence risk of meningioma through analysis of five independent series of case patients and controls (n=631 and 637, respectively). 18823701 2009
dbSNP: rs1458511470
rs1458511470
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE We next expanded our analysis with 276 OSCC and 134 L/P-SCC sample data from The Cancer Genome Atlas (TCGA dataset). 29884412 2018
dbSNP: rs1458511470
rs1458511470
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE We next expanded our analysis with 276 OSCC and 134 L/P-SCC sample data from The Cancer Genome Atlas (TCGA dataset). 29884412 2018
dbSNP: rs13113
rs13113
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0024305
Disease:
Lymphoma, Non-Hodgkin
0.010 GeneticVariation BEFREE We investigated five single nucleotide polymorphisms in four key caspase genes, CASP3 [Ex8-280C>A (rs6948) and Ex8+567T>C (rs1049216)], CASP8 Ex14-271A>T (rs13113), CASP9 Ex5+32G>A (rs1052576) and CASP10 Ex3-171A>G (rs3900115) to determine whether they alter risk for non-Hodgkin lymphoma (NHL) in a population-based case-control study of women in Connecticut (461 cases and 535 controls). 17071630 2007
dbSNP: rs3817578
rs3817578
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE We identified a three-SNP haplotype across rs3834129, rs6723097, and rs3817578 that was significantly associated with breast cancer (P < 5 × 10(-6)), with a dominant risk ratio and 95% CI of 1.28 (1.21-1.35) and frequency of 0.29 in controls. 22056502 2012
dbSNP: rs3817578
rs3817578
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE We identified a three-SNP haplotype across rs3834129, rs6723097, and rs3817578 that was significantly associated with breast cancer (P < 5 × 10(-6)), with a dominant risk ratio and 95% CI of 1.28 (1.21-1.35) and frequency of 0.29 in controls. 22056502 2012
dbSNP: rs6723097
rs6723097
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE We identified a three-SNP haplotype across rs3834129, rs6723097, and rs3817578 that was significantly associated with breast cancer (P < 5 × 10(-6)), with a dominant risk ratio and 95% CI of 1.28 (1.21-1.35) and frequency of 0.29 in controls. 22056502 2012
dbSNP: rs6723097
rs6723097
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE We identified a three-SNP haplotype across rs3834129, rs6723097, and rs3817578 that was significantly associated with breast cancer (P < 5 × 10(-6)), with a dominant risk ratio and 95% CI of 1.28 (1.21-1.35) and frequency of 0.29 in controls. 22056502 2012
dbSNP: rs1477247624
rs1477247624
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C1328840
Disease:
Autoimmune Lymphoproliferative Syndrome
0.010 GeneticVariation BEFREE We identified 6 patients with an ALPS (n = 2) or ALPS-like (n = 4) phenotype, carrying I406L (n = 1),V410l (n = 2),Y446C (n = 1) heterozygous CASP10 variants or the L522l polymorphisms (n = 2) associated with another polymorphic homozygote variant on CASP8 or a compound heterozygous mutation on TNFRSF13C. 31309545 2019
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE We found evidence of an association with breast cancer for CASP8 D302H (with odds ratios (OR) of 0.89 (95% confidence interval (c.i.): 0.85-0.94) and 0.74 (95% c.i. 17293864 2007
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE We found evidence of an association with breast cancer for CASP8 D302H (with odds ratios (OR) of 0.89 (95% confidence interval (c.i.): 0.85-0.94) and 0.74 (95% c.i. 17293864 2007
dbSNP: rs1044484322
rs1044484322
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE We found a significantly increased breast cancer</span> risk with increasing minor alleles for IL1A A114S (rs17561); heterozygote OR 1.2 (95% CI, 1.0-1.4) and homozygote OR 1.5 (95% CI, 1.1-2.0), P(trend) = 0.008. 17932347 2007
dbSNP: rs1044484322
rs1044484322
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE We found a significantly increased breast cancer</span> risk with increasing minor alleles for IL1A A114S (rs17561); heterozygote OR 1.2 (95% CI, 1.0-1.4) and homozygote OR 1.5 (95% CI, 1.1-2.0), P(trend) = 0.008. 17932347 2007
dbSNP: rs113686495
rs113686495
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE We aimed to discern potential association of these two variants and rs113686495 (CTGTCATT/-), as well as CASP8 mRNA and protein expression levels with colorectal cancer (CRC) in Han Chinese. 23844036 2013
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE Two SNPs, rs6750157 in CASP10 and rs1045485 in CASP8 were modestly associated with asthma in the African-American (P=0.025) and Hispanic (P=0.033) populations, respectively. 18823309 2008
dbSNP: rs3769821
rs3769821
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0024305
Disease:
Lymphoma, Non-Hodgkin
0.020 GeneticVariation BEFREE To investigate whether these two genetic variants, together with rs113686495 (-/CTGTCATT) which is 50 bp downstream of rs3769821, were associated with NHL in Chinese patients, we genotyped two cohorts of case and control samples from Kunming (case n = 64, control n = 133) and Shanghai (case n = 75, control n = 107). 21633787 2011
dbSNP: rs113686495
rs113686495
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0024305
Disease:
Lymphoma, Non-Hodgkin
0.010 GeneticVariation BEFREE To investigate whether these two genetic variants, together with rs113686495 (-/CTGTCATT) which is 50 bp downstream of rs3769821, were associated with NHL in Chinese patients, we genotyped two cohorts of case and control samples from Kunming (case n = 64, control n = 133) and Shanghai (case n = 75, control n = 107). 21633787 2011
dbSNP: rs772151801
rs772151801
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.010 GeneticVariation BEFREE Tissue inhibitor of metalloproteinases-3 (TIMP-3) expression is increased during serum deprivation-induced neuronal apoptosis in vitro and in the G93A mouse model of amyotrophic lateral sclerosis: a potential modulator of Fas-mediated apoptosis. 18316197 2008
dbSNP: rs1045494
rs1045494
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0149925
Disease:
Small cell carcinoma of lung
0.010 GeneticVariation BEFREE Three SNPs, CASP8: rs1045494 (C > T), PIK3R1: rs3756668 (A > G) and CASP7: rs4353229 (T > C), were associated with longer overall survival in LD-SCLC patients after chemoradiotherapy. 26988918 2016
dbSNP: rs3834129
rs3834129
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C3840085
Disease:
Disorder of Achilles tendon
0.010 GeneticVariation BEFREE This study indicates the independent association of CASP8_rs1045485 and CASP8_rs3834129 as well as their haplotype with AT risk and the identification of an optimal model which included genetic loci CASP8_rs384129 and CASP8_rs1045485 together with sex to capture AT risk in both SA and AUS. 22588838 2012
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C3840085
Disease:
Disorder of Achilles tendon
0.010 GeneticVariation BEFREE This study indicates the independent association of CASP8_rs1045485 and CASP8_rs3834129 as well as their haplotype with AT risk and the identification of an optimal model which included genetic loci CASP8_rs384129 and CASP8_rs1045485 together with sex to capture AT risk in both SA and AUS. 22588838 2012
dbSNP: rs3834129
rs3834129
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.050 GeneticVariation BEFREE These results suggest that the minor allele del of rs3834129 is associated under a dominant model with increased breast cancer risk in carriers of BRCA1 mutations but not in carriers of BRCA2 mutations. 20652397 2011
dbSNP: rs3834129
rs3834129
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.050 GeneticVariation BEFREE These results suggest that the minor allele del of rs3834129 is associated under a dominant model with increased breast cancer risk in carriers of BRCA1 mutations but not in carriers of BRCA2 mutations. 20652397 2011