PubMed:23322997 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/23322997","sourcedb":"PubMed","sourceid":"23322997","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/23322997","text":"-449 C\u003eG polymorphism of NFKB1 gene, coding nuclear factor-kappa-B, is associated with the susceptibility to ulcerative colitis.\nAIM: To clarify the association between a polymorphism -449 C\u003eG (rs72696119) in 5'-UTR of NFKB1 with ulcerative colitis (UC).\nMETHODS: The studied population comprised 639 subjects, including patients with UC (UC cases, n = 174) and subjects without UC (controls, n = 465). We employed polymerase chain reaction-single strand conformation polymorphism to detect the gene polymorphism.\nRESULTS: The rs72696119 G allele frequencies in controls and UC cases were 33.4% and 38.5%, respectively (P = 0.10). Genotype frequency of the GG homozygote in UC cases was significantly higher than that in controls (P = 0.017), and the GG homozygote was significantly associated with susceptibility to UC [odds ratio (OR), 1.88; 95%CI, 1.13-3.14]. In male subjects, the GG homozygote was associated with an increased risk for UC (OR, 3.10; 95%CI, 1.47-6.54; P = 0.0053), whereas this association was not found in female subjects. In addition, the GG homozygote was significantly associated with the risk of non-continuous disease (OR, 2.06; 95%CI, 1.12-3.79; P = 0.029), not having total colitis (OR, 2.40; 95%CI, 1.09-3.80, P = 0.040), disease which developed before 20 years of age (OR, 2.80; 95%CI, 1.07-7.32, P = 0.041), no hospitalization (OR, 2.28; 95%CI, 1.29-4.05; P = 0.0090) and with a maximum of 8 or less on the UCDAI score (OR, 2.45; 95%CI, 1.23-4.93; P = 0.022).\nCONCLUSION: Our results provide evidence that NFKB1 polymorphism rs72696119 was significantly associated with the development of UC. This polymorphism influences the susceptibility to and pathophysiological features of UC.","tracks":[{"project":"Allie","denotations":[{"id":"SS1_23322997_2_0","span":{"begin":230,"end":248},"obj":"expanded"},{"id":"SS2_23322997_2_0","span":{"begin":250,"end":252},"obj":"abbr"},{"id":"SS1_23322997_8_0","span":{"begin":821,"end":831},"obj":"expanded"},{"id":"SS2_23322997_8_0","span":{"begin":833,"end":835},"obj":"abbr"}],"relations":[{"id":"AE1_23322997_2_0","pred":"abbreviatedTo","subj":"SS1_23322997_2_0","obj":"SS2_23322997_2_0"},{"id":"AE1_23322997_8_0","pred":"abbreviatedTo","subj":"SS1_23322997_8_0","obj":"SS2_23322997_8_0"}],"attributes":[{"subj":"SS1_23322997_2_0","pred":"source","obj":"Allie"},{"subj":"SS2_23322997_2_0","pred":"source","obj":"Allie"},{"subj":"SS1_23322997_8_0","pred":"source","obj":"Allie"},{"subj":"SS2_23322997_8_0","pred":"source","obj":"Allie"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":25,"end":30},"obj":"gene:4790"},{"id":"T1","span":{"begin":109,"end":127},"obj":"disease:C0009324"},{"id":"T2","span":{"begin":212,"end":215},"obj":"gene:2837"},{"id":"T3","span":{"begin":230,"end":248},"obj":"disease:C0009324"},{"id":"T4","span":{"begin":212,"end":215},"obj":"gene:2837"},{"id":"T5","span":{"begin":250,"end":252},"obj":"disease:C0009324"},{"id":"T6","span":{"begin":219,"end":224},"obj":"gene:4790"},{"id":"T7","span":{"begin":250,"end":252},"obj":"disease:C0009324"},{"id":"T8","span":{"begin":219,"end":224},"obj":"gene:4790"},{"id":"T9","span":{"begin":230,"end":248},"obj":"disease:C0009324"},{"id":"T10","span":{"begin":1538,"end":1543},"obj":"gene:4790"},{"id":"T11","span":{"begin":1621,"end":1623},"obj":"disease:C0009324"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"},{"id":"R6","pred":"associated_with","subj":"T10","obj":"T11"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"},{"subj":"T2","pred":"source","obj":"DisGeNET"},{"subj":"T3","pred":"source","obj":"DisGeNET"},{"subj":"T4","pred":"source","obj":"DisGeNET"},{"subj":"T5","pred":"source","obj":"DisGeNET"},{"subj":"T6","pred":"source","obj":"DisGeNET"},{"subj":"T7","pred":"source","obj":"DisGeNET"},{"subj":"T8","pred":"source","obj":"DisGeNET"},{"subj":"T9","pred":"source","obj":"DisGeNET"},{"subj":"T10","pred":"source","obj":"DisGeNET"},{"subj":"T11","pred":"source","obj":"DisGeNET"}]},{"project":"DisGeNET5_variant_disease","denotations":[{"id":"23322997-8#53#63#geners72696119","span":{"begin":1557,"end":1567},"obj":"geners72696119"},{"id":"23322997-8#117#119#diseaseC0009324","span":{"begin":1621,"end":1623},"obj":"diseaseC0009324"}],"relations":[{"id":"53#63#geners72696119117#119#diseaseC0009324","pred":"associated_with","subj":"23322997-8#53#63#geners72696119","obj":"23322997-8#117#119#diseaseC0009324"}],"attributes":[{"subj":"23322997-8#53#63#geners72696119","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"23322997-8#117#119#diseaseC0009324","pred":"source","obj":"DisGeNET5_variant_disease"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"23322997-0#25#30#gene4790","span":{"begin":25,"end":30},"obj":"gene4790"},{"id":"23322997-0#109#127#diseaseC0009324","span":{"begin":109,"end":127},"obj":"diseaseC0009324"}],"relations":[{"id":"25#30#gene4790109#127#diseaseC0009324","pred":"associated_with","subj":"23322997-0#25#30#gene4790","obj":"23322997-0#109#127#diseaseC0009324"}],"attributes":[{"subj":"23322997-0#25#30#gene4790","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"23322997-0#109#127#diseaseC0009324","pred":"source","obj":"DisGeNET5_gene_disease"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"Allie","color":"#b493ec","default":true},{"id":"DisGeNET","color":"#93ec9a"},{"id":"DisGeNET5_variant_disease","color":"#ec93a5"},{"id":"DisGeNET5_gene_disease","color":"#93bfec"}]}]}}