PubMed:11956055 JSONTXT

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"11956055-0#36#57#gene7124","span":{"begin":36,"end":57},"obj":"gene7124"},{"id":"11956055-0#106#117#diseaseC0036202","span":{"begin":106,"end":117},"obj":"diseaseC0036202"},{"id":"11956055-8#61#64#gene7124","span":{"begin":1199,"end":1202},"obj":"gene7124"},{"id":"11956055-8#72#75#gene7124","span":{"begin":1210,"end":1213},"obj":"gene7124"},{"id":"11956055-8#103#121#diseaseC0340164","span":{"begin":1241,"end":1259},"obj":"diseaseC0340164"}],"relations":[{"id":"36#57#gene7124106#117#diseaseC0036202","pred":"associated_with","subj":"11956055-0#36#57#gene7124","obj":"11956055-0#106#117#diseaseC0036202"},{"id":"61#64#gene7124103#121#diseaseC0340164","pred":"associated_with","subj":"11956055-8#61#64#gene7124","obj":"11956055-8#103#121#diseaseC0340164"},{"id":"72#75#gene7124103#121#diseaseC0340164","pred":"associated_with","subj":"11956055-8#72#75#gene7124","obj":"11956055-8#103#121#diseaseC0340164"}],"text":"Increased frequency of the uncommon tumor necrosis factor -857T allele in British and Dutch patients with sarcoidosis.\nInterindividual variation in the expression of tumor necrosis factor (TNF)-alpha suggests the existence of functionally distinct TNF alleles, which might play a role in sarcoidosis. We investigated five potentially functional biallelic TNF promoter polymorphisms at nucleotide positions -1,031(T/C), -863(C/A), -857(C/T), -307(G/A), and -237(G/A) in two clinically well-defined groups of white patients (British [UK] and Dutch [NL]) with sarcoidosis, each with their own control subjects. Polymorphisms were determined using SSP-PCR. A total of 772 individuals were studied (96 UK patients, 354 UK control subjects, 100 NL patients, 222 NL controls). A significant increase in the rarer TNF -857T allele was found in both sarcoidosis populations. In total 25.5% of the sarcoid patients carried the TNF -857T allele versus 14.1% of the control subjects (p = 0.003, p(c) = 0.02). In the sarcoidosis group the allele frequency of this polymorphism was 13.5% versus 7.3% in the control subjects (p = 0.0003, p(c) = 0.002). Subgroup analysis showed a significant increase in the rarer TNF -307A (TNF-2) allele in patients with Löfgren's syndrome (p = 0.006, p(c) = 0.03). Our finding does not necessarily imply that the two polymorphisms relate to different functions; it may be that one or both are in linkage disequilibrium with the causal site. This requires further studies of functionality and linkage disequilibrium."}

{"project":"Wangshuguang","denotations":[{"id":"T1","span":{"begin":166,"end":171},"obj":"B-Molecular_Activity"},{"id":"T2","span":{"begin":172,"end":180},"obj":"I-Molecular_Activity"},{"id":"T3","span":{"begin":181,"end":187},"obj":"I-Molecular_Activity"},{"id":"T4","span":{"begin":200,"end":208},"obj":"B-Negtive_Regulation"},{"id":"T5","span":{"begin":273,"end":277},"obj":"B-Regulation"},{"id":"T6","span":{"begin":278,"end":279},"obj":"I-Regulation"},{"id":"T7","span":{"begin":280,"end":284},"obj":"I-Regulation"},{"id":"T8","span":{"begin":717,"end":724},"obj":"B-Variation"},{"id":"T9","span":{"begin":725,"end":733},"obj":"I-Variation"},{"id":"T10","span":{"begin":954,"end":961},"obj":"B-Variation"},{"id":"T11","span":{"begin":962,"end":970},"obj":"B-Negtive_Regulation"},{"id":"T12","span":{"begin":1093,"end":1100},"obj":"B-Variation"},{"id":"T13","span":{"begin":1101,"end":1109},"obj":"B-Negtive_Regulation"}],"text":"Increased frequency of the uncommon tumor necrosis factor -857T allele in British and Dutch patients with sarcoidosis.\nInterindividual variation in the expression of tumor necrosis factor (TNF)-alpha suggests the existence of functionally distinct TNF alleles, which might play a role in sarcoidosis. We investigated five potentially functional biallelic TNF promoter polymorphisms at nucleotide positions -1,031(T/C), -863(C/A), -857(C/T), -307(G/A), and -237(G/A) in two clinically well-defined groups of white patients (British [UK] and Dutch [NL]) with sarcoidosis, each with their own control subjects. Polymorphisms were determined using SSP-PCR. A total of 772 individuals were studied (96 UK patients, 354 UK control subjects, 100 NL patients, 222 NL controls). A significant increase in the rarer TNF -857T allele was found in both sarcoidosis populations. In total 25.5% of the sarcoid patients carried the TNF -857T allele versus 14.1% of the control subjects (p = 0.003, p(c) = 0.02). In the sarcoidosis group the allele frequency of this polymorphism was 13.5% versus 7.3% in the control subjects (p = 0.0003, p(c) = 0.002). Subgroup analysis showed a significant increase in the rarer TNF -307A (TNF-2) allele in patients with Löfgren's syndrome (p = 0.006, p(c) = 0.03). Our finding does not necessarily imply that the two polymorphisms relate to different functions; it may be that one or both are in linkage disequilibrium with the causal site. This requires further studies of functionality and linkage disequilibrium."}

{"project":"123123123","denotations":[{"id":"T1","span":{"begin":166,"end":171},"obj":"B-Molecular_Activity"},{"id":"T2","span":{"begin":172,"end":180},"obj":"I-Molecular_Activity"},{"id":"T3","span":{"begin":181,"end":187},"obj":"I-Molecular_Activity"},{"id":"T4","span":{"begin":200,"end":208},"obj":"B-Negtive_Regulation"},{"id":"T5","span":{"begin":273,"end":277},"obj":"B-Regulation"},{"id":"T6","span":{"begin":278,"end":279},"obj":"I-Regulation"},{"id":"T7","span":{"begin":280,"end":284},"obj":"I-Regulation"},{"id":"T8","span":{"begin":717,"end":724},"obj":"B-Variation"},{"id":"T9","span":{"begin":725,"end":733},"obj":"I-Variation"},{"id":"T10","span":{"begin":954,"end":961},"obj":"B-Variation"},{"id":"T11","span":{"begin":962,"end":970},"obj":"B-Negtive_Regulation"},{"id":"T12","span":{"begin":1093,"end":1100},"obj":"B-Variation"},{"id":"T13","span":{"begin":1101,"end":1109},"obj":"B-Negtive_Regulation"}],"text":"Increased frequency of the uncommon tumor necrosis factor -857T allele in British and Dutch patients with sarcoidosis.\nInterindividual variation in the expression of tumor necrosis factor (TNF)-alpha suggests the existence of functionally distinct TNF alleles, which might play a role in sarcoidosis. We investigated five potentially functional biallelic TNF promoter polymorphisms at nucleotide positions -1,031(T/C), -863(C/A), -857(C/T), -307(G/A), and -237(G/A) in two clinically well-defined groups of white patients (British [UK] and Dutch [NL]) with sarcoidosis, each with their own control subjects. Polymorphisms were determined using SSP-PCR. A total of 772 individuals were studied (96 UK patients, 354 UK control subjects, 100 NL patients, 222 NL controls). A significant increase in the rarer TNF -857T allele was found in both sarcoidosis populations. In total 25.5% of the sarcoid patients carried the TNF -857T allele versus 14.1% of the control subjects (p = 0.003, p(c) = 0.02). In the sarcoidosis group the allele frequency of this polymorphism was 13.5% versus 7.3% in the control subjects (p = 0.0003, p(c) = 0.002). Subgroup analysis showed a significant increase in the rarer TNF -307A (TNF-2) allele in patients with Löfgren's syndrome (p = 0.006, p(c) = 0.03). Our finding does not necessarily imply that the two polymorphisms relate to different functions; it may be that one or both are in linkage disequilibrium with the causal site. This requires further studies of functionality and linkage disequilibrium."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":36,"end":57},"obj":"gene:7124"},{"id":"T1","span":{"begin":106,"end":117},"obj":"disease:C0036202"},{"id":"T2","span":{"begin":355,"end":358},"obj":"gene:7124"},{"id":"T3","span":{"begin":557,"end":568},"obj":"disease:C0036202"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Increased frequency of the uncommon tumor necrosis factor -857T allele in British and Dutch patients with sarcoidosis.\nInterindividual variation in the expression of tumor necrosis factor (TNF)-alpha suggests the existence of functionally distinct TNF alleles, which might play a role in sarcoidosis. We investigated five potentially functional biallelic TNF promoter polymorphisms at nucleotide positions -1,031(T/C), -863(C/A), -857(C/T), -307(G/A), and -237(G/A) in two clinically well-defined groups of white patients (British [UK] and Dutch [NL]) with sarcoidosis, each with their own control subjects. Polymorphisms were determined using SSP-PCR. A total of 772 individuals were studied (96 UK patients, 354 UK control subjects, 100 NL patients, 222 NL controls). A significant increase in the rarer TNF -857T allele was found in both sarcoidosis populations. In total 25.5% of the sarcoid patients carried the TNF -857T allele versus 14.1% of the control subjects (p = 0.003, p(c) = 0.02). In the sarcoidosis group the allele frequency of this polymorphism was 13.5% versus 7.3% in the control subjects (p = 0.0003, p(c) = 0.002). Subgroup analysis showed a significant increase in the rarer TNF -307A (TNF-2) allele in patients with Löfgren's syndrome (p = 0.006, p(c) = 0.03). Our finding does not necessarily imply that the two polymorphisms relate to different functions; it may be that one or both are in linkage disequilibrium with the causal site. This requires further studies of functionality and linkage disequilibrium."}