PubMed:20086182 JSONTXT

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":276,"end":289},"obj":"HP_0001427"},{"id":"T2","span":{"begin":450,"end":456},"obj":"HP_0002664"},{"id":"T3","span":{"begin":577,"end":583},"obj":"HP_0002664"},{"id":"T4","span":{"begin":707,"end":730},"obj":"HP_0002860"},{"id":"T5","span":{"begin":770,"end":776},"obj":"HP_0002664"},{"id":"T6","span":{"begin":1422,"end":1428},"obj":"HP_0002664"}],"text":"The six-nucleotide deletion/insertion variant in the CASP8 promoter region is inversely associated with risk of squamous cell carcinoma of the head and neck.\nCaspase 8 (CASP8) is an apoptosis-related cysteine peptidase involved in the death receptor pathway and likely in the mitochondrial pathway. A CASP8 promoter region six-nucleotide deletion/insertion (-652 6N ins/del) variant and a coding region D302H polymorphism are reportedly important in cancer development, but no reported study has assessed the associations of these genetic variations with risk of head and neck cancer. In a hospital-based study of non-Hispanic whites, we genotyped CASP8 -652 6N del and 302H variants in 1,023 patients with squamous cell carcinoma of the head and neck (SCCHN) and 1,052 cancer-free controls. Crude and adjusted odds ratios (OR) and 95% confidence intervals (CI) were estimated using unconditional logistic regression models. The CASP8 -652 6N del variant genotypes or haplotypes were inversely associated with SCCHN risk (adjusted OR, 0.70; 95% CI, 0.57-0.85 for the ins/del + del/del genotypes compared with the ins/ins genotype; adjusted OR, 0.73; 95% CI, 0.55-0.97 for the del-D haplotype compared with the ins-D haplotype). Furthermore, the number of the CASP8 -652 6N del (but not 302H) variant allele tended to correlate with increased levels of camptothecin-induced p53-mediated apoptosis in T lymphocytes from 170 cancer-free controls. We concluded that the CASP8 -652 6N del variant allele may contribute to the risk of developing SCCHN in non-Hispanic white populations. Further validation by population-based case-control studies and rigorous mechanistic studies is warranted."}

{"project":"Allie","denotations":[{"id":"SS1_20086182_1_0","span":{"begin":158,"end":167},"obj":"expanded"},{"id":"SS2_20086182_1_0","span":{"begin":169,"end":174},"obj":"abbr"},{"id":"SS1_20086182_3_0","span":{"begin":707,"end":751},"obj":"expanded"},{"id":"SS2_20086182_3_0","span":{"begin":753,"end":758},"obj":"abbr"},{"id":"SS1_20086182_4_0","span":{"begin":811,"end":822},"obj":"expanded"},{"id":"SS2_20086182_4_0","span":{"begin":824,"end":826},"obj":"abbr"},{"id":"SS1_20086182_4_1","span":{"begin":836,"end":856},"obj":"expanded"},{"id":"SS2_20086182_4_1","span":{"begin":858,"end":860},"obj":"abbr"}],"relations":[{"id":"AE1_20086182_1_0","pred":"abbreviatedTo","subj":"SS1_20086182_1_0","obj":"SS2_20086182_1_0"},{"id":"AE1_20086182_3_0","pred":"abbreviatedTo","subj":"SS1_20086182_3_0","obj":"SS2_20086182_3_0"},{"id":"AE1_20086182_4_0","pred":"abbreviatedTo","subj":"SS1_20086182_4_0","obj":"SS2_20086182_4_0"},{"id":"AE1_20086182_4_1","pred":"abbreviatedTo","subj":"SS1_20086182_4_1","obj":"SS2_20086182_4_1"}],"text":"The six-nucleotide deletion/insertion variant in the CASP8 promoter region is inversely associated with risk of squamous cell carcinoma of the head and neck.\nCaspase 8 (CASP8) is an apoptosis-related cysteine peptidase involved in the death receptor pathway and likely in the mitochondrial pathway. A CASP8 promoter region six-nucleotide deletion/insertion (-652 6N ins/del) variant and a coding region D302H polymorphism are reportedly important in cancer development, but no reported study has assessed the associations of these genetic variations with risk of head and neck cancer. In a hospital-based study of non-Hispanic whites, we genotyped CASP8 -652 6N del and 302H variants in 1,023 patients with squamous cell carcinoma of the head and neck (SCCHN) and 1,052 cancer-free controls. Crude and adjusted odds ratios (OR) and 95% confidence intervals (CI) were estimated using unconditional logistic regression models. The CASP8 -652 6N del variant genotypes or haplotypes were inversely associated with SCCHN risk (adjusted OR, 0.70; 95% CI, 0.57-0.85 for the ins/del + del/del genotypes compared with the ins/ins genotype; adjusted OR, 0.73; 95% CI, 0.55-0.97 for the del-D haplotype compared with the ins-D haplotype). Furthermore, the number of the CASP8 -652 6N del (but not 302H) variant allele tended to correlate with increased levels of camptothecin-induced p53-mediated apoptosis in T lymphocytes from 170 cancer-free controls. We concluded that the CASP8 -652 6N del variant allele may contribute to the risk of developing SCCHN in non-Hispanic white populations. Further validation by population-based case-control studies and rigorous mechanistic studies is warranted."}

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"20086182-2#104#109#geners1045485","span":{"begin":403,"end":408},"obj":"geners1045485"},{"id":"20086182-2#264#284#diseaseC0278996","span":{"begin":563,"end":583},"obj":"diseaseC0278996"}],"relations":[{"id":"104#109#geners1045485264#284#diseaseC0278996","pred":"associated_with","subj":"20086182-2#104#109#geners1045485","obj":"20086182-2#264#284#diseaseC0278996"}],"text":"The six-nucleotide deletion/insertion variant in the CASP8 promoter region is inversely associated with risk of squamous cell carcinoma of the head and neck.\nCaspase 8 (CASP8) is an apoptosis-related cysteine peptidase involved in the death receptor pathway and likely in the mitochondrial pathway. A CASP8 promoter region six-nucleotide deletion/insertion (-652 6N ins/del) variant and a coding region D302H polymorphism are reportedly important in cancer development, but no reported study has assessed the associations of these genetic variations with risk of head and neck cancer. In a hospital-based study of non-Hispanic whites, we genotyped CASP8 -652 6N del and 302H variants in 1,023 patients with squamous cell carcinoma of the head and neck (SCCHN) and 1,052 cancer-free controls. Crude and adjusted odds ratios (OR) and 95% confidence intervals (CI) were estimated using unconditional logistic regression models. The CASP8 -652 6N del variant genotypes or haplotypes were inversely associated with SCCHN risk (adjusted OR, 0.70; 95% CI, 0.57-0.85 for the ins/del + del/del genotypes compared with the ins/ins genotype; adjusted OR, 0.73; 95% CI, 0.55-0.97 for the del-D haplotype compared with the ins-D haplotype). Furthermore, the number of the CASP8 -652 6N del (but not 302H) variant allele tended to correlate with increased levels of camptothecin-induced p53-mediated apoptosis in T lymphocytes from 170 cancer-free controls. We concluded that the CASP8 -652 6N del variant allele may contribute to the risk of developing SCCHN in non-Hispanic white populations. Further validation by population-based case-control studies and rigorous mechanistic studies is warranted."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"20086182-0#53#58#gene841","span":{"begin":53,"end":58},"obj":"gene841"},{"id":"20086182-0#112#156#diseaseC1168401","span":{"begin":112,"end":156},"obj":"diseaseC1168401"},{"id":"20086182-2#2#7#gene841","span":{"begin":301,"end":306},"obj":"gene841"},{"id":"20086182-2#264#284#diseaseC0278996","span":{"begin":563,"end":583},"obj":"diseaseC0278996"}],"relations":[{"id":"53#58#gene841112#156#diseaseC1168401","pred":"associated_with","subj":"20086182-0#53#58#gene841","obj":"20086182-0#112#156#diseaseC1168401"},{"id":"2#7#gene841264#284#diseaseC0278996","pred":"associated_with","subj":"20086182-2#2#7#gene841","obj":"20086182-2#264#284#diseaseC0278996"}],"text":"The six-nucleotide deletion/insertion variant in the CASP8 promoter region is inversely associated with risk of squamous cell carcinoma of the head and neck.\nCaspase 8 (CASP8) is an apoptosis-related cysteine peptidase involved in the death receptor pathway and likely in the mitochondrial pathway. A CASP8 promoter region six-nucleotide deletion/insertion (-652 6N ins/del) variant and a coding region D302H polymorphism are reportedly important in cancer development, but no reported study has assessed the associations of these genetic variations with risk of head and neck cancer. In a hospital-based study of non-Hispanic whites, we genotyped CASP8 -652 6N del and 302H variants in 1,023 patients with squamous cell carcinoma of the head and neck (SCCHN) and 1,052 cancer-free controls. Crude and adjusted odds ratios (OR) and 95% confidence intervals (CI) were estimated using unconditional logistic regression models. The CASP8 -652 6N del variant genotypes or haplotypes were inversely associated with SCCHN risk (adjusted OR, 0.70; 95% CI, 0.57-0.85 for the ins/del + del/del genotypes compared with the ins/ins genotype; adjusted OR, 0.73; 95% CI, 0.55-0.97 for the del-D haplotype compared with the ins-D haplotype). Furthermore, the number of the CASP8 -652 6N del (but not 302H) variant allele tended to correlate with increased levels of camptothecin-induced p53-mediated apoptosis in T lymphocytes from 170 cancer-free controls. We concluded that the CASP8 -652 6N del variant allele may contribute to the risk of developing SCCHN in non-Hispanic white populations. Further validation by population-based case-control studies and rigorous mechanistic studies is warranted."}

{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":358,"end":373},"obj":"DNAMutation:c|INDEL|-652|6"},{"id":"T2","span":{"begin":403,"end":408},"obj":"ProteinMutation:p|SUB|D|302|H"},{"id":"T3","span":{"begin":654,"end":665},"obj":"DNAMutation:c|DEL|-652|6"},{"id":"T4","span":{"begin":935,"end":946},"obj":"DNAMutation:c|DEL|-652|6"},{"id":"T5","span":{"begin":1265,"end":1276},"obj":"DNAMutation:c|DEL|-652|6"},{"id":"T6","span":{"begin":1472,"end":1483},"obj":"DNAMutation:c|DEL|-652|6"}],"text":"The six-nucleotide deletion/insertion variant in the CASP8 promoter region is inversely associated with risk of squamous cell carcinoma of the head and neck.\nCaspase 8 (CASP8) is an apoptosis-related cysteine peptidase involved in the death receptor pathway and likely in the mitochondrial pathway. A CASP8 promoter region six-nucleotide deletion/insertion (-652 6N ins/del) variant and a coding region D302H polymorphism are reportedly important in cancer development, but no reported study has assessed the associations of these genetic variations with risk of head and neck cancer. In a hospital-based study of non-Hispanic whites, we genotyped CASP8 -652 6N del and 302H variants in 1,023 patients with squamous cell carcinoma of the head and neck (SCCHN) and 1,052 cancer-free controls. Crude and adjusted odds ratios (OR) and 95% confidence intervals (CI) were estimated using unconditional logistic regression models. The CASP8 -652 6N del variant genotypes or haplotypes were inversely associated with SCCHN risk (adjusted OR, 0.70; 95% CI, 0.57-0.85 for the ins/del + del/del genotypes compared with the ins/ins genotype; adjusted OR, 0.73; 95% CI, 0.55-0.97 for the del-D haplotype compared with the ins-D haplotype). Furthermore, the number of the CASP8 -652 6N del (but not 302H) variant allele tended to correlate with increased levels of camptothecin-induced p53-mediated apoptosis in T lymphocytes from 170 cancer-free controls. We concluded that the CASP8 -652 6N del variant allele may contribute to the risk of developing SCCHN in non-Hispanic white populations. Further validation by population-based case-control studies and rigorous mechanistic studies is warranted."}