PubMed:12540637 JSONTXT

{"project":"FSU-PRGE","denotations":[{"id":"T1","span":{"begin":87,"end":99},"obj":"protein"},{"id":"T2","span":{"begin":109,"end":115},"obj":"protein"},{"id":"T3","span":{"begin":117,"end":123},"obj":"protein"},{"id":"T4","span":{"begin":129,"end":133},"obj":"protein"},{"id":"T5","span":{"begin":135,"end":140},"obj":"protein"},{"id":"T6","span":{"begin":159,"end":165},"obj":"protein"},{"id":"T7","span":{"begin":225,"end":230},"obj":"protein"},{"id":"T8","span":{"begin":235,"end":241},"obj":"protein"},{"id":"T9","span":{"begin":269,"end":292},"obj":"protein"},{"id":"T10","span":{"begin":294,"end":298},"obj":"protein"},{"id":"T11","span":{"begin":304,"end":341},"obj":"protein"},{"id":"T12","span":{"begin":343,"end":349},"obj":"protein"},{"id":"T13","span":{"begin":368,"end":408},"obj":"protein"},{"id":"T14","span":{"begin":418,"end":425},"obj":"protein"},{"id":"T15","span":{"begin":474,"end":479},"obj":"protein"},{"id":"T16","span":{"begin":507,"end":513},"obj":"protein"},{"id":"T17","span":{"begin":1059,"end":1064},"obj":"protein"},{"id":"T18","span":{"begin":1377,"end":1382},"obj":"protein"}],"text":"Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.\nThe genes ABCC8 and KCNJ11, which encode the subunits sulfonylurea receptor 1 (SUR1) and inwardly rectifying potassium channel (Kir6.2) of the beta-cell ATP-sensitive potassium (K(ATP)) channel, control insulin secretion. Common polymorphisms in these genes (ABCC8 exon 16-3t/c, exon 18 T/C, KCNJ11 E23K) have been variably associated with type 2 diabetes, but no large ( approximately 2,000 subjects) case-control studies have been performed. We evaluated the role of these three variants by studying 2,486 U.K. subjects: 854 with type 2 diabetes, 1,182 population control subjects, and 150 parent-offspring type 2 diabetic trios. The E23K allele was associated with diabetes in the case-control study (odds ratio [OR] 1.18 [95% CI 1.04-1.34], P = 0.01) but did not show familial association with diabetes. Neither the exon 16 nor the exon 18 ABCC8 variants were associated with diabetes (1.04 [0.91-1.18], P = 0.57; 0.93 [0.71-1.23], P = 0.63, respectively). Meta-analysis of all case-control data showed that the E23K allele was associated with type 2 diabetes (K allele OR 1.23 [1.12-1.36], P = 0.000015; KK genotype 1.65 [1.34-2.02], P = 0.000002); but the ABCC8 variants were not associated. Our results confirm that E23K increases risk of type 2 diabetes and show that large-scale association studies are important for the identification of diabetes susceptibility alleles."}

{"project":"PIR-corpus2","denotations":[{"id":"T1","span":{"begin":66,"end":124},"obj":"protein"},{"id":"T2","span":{"begin":129,"end":133},"obj":"protein"},{"id":"T3","span":{"begin":135,"end":140},"obj":"protein"},{"id":"T4","span":{"begin":159,"end":165},"obj":"protein"},{"id":"T5","span":{"begin":225,"end":230},"obj":"protein"},{"id":"T6","span":{"begin":235,"end":241},"obj":"protein"},{"id":"T7","span":{"begin":269,"end":281},"obj":"protein"},{"id":"T8","span":{"begin":304,"end":350},"obj":"protein"},{"id":"T9","span":{"begin":358,"end":408},"obj":"protein"},{"id":"T10","span":{"begin":418,"end":425},"obj":"protein"},{"id":"T11","span":{"begin":474,"end":479},"obj":"protein"},{"id":"T12","span":{"begin":1059,"end":1064},"obj":"protein"},{"id":"T13","span":{"begin":1377,"end":1382},"obj":"protein"}],"text":"Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.\nThe genes ABCC8 and KCNJ11, which encode the subunits sulfonylurea receptor 1 (SUR1) and inwardly rectifying potassium channel (Kir6.2) of the beta-cell ATP-sensitive potassium (K(ATP)) channel, control insulin secretion. Common polymorphisms in these genes (ABCC8 exon 16-3t/c, exon 18 T/C, KCNJ11 E23K) have been variably associated with type 2 diabetes, but no large ( approximately 2,000 subjects) case-control studies have been performed. We evaluated the role of these three variants by studying 2,486 U.K. subjects: 854 with type 2 diabetes, 1,182 population control subjects, and 150 parent-offspring type 2 diabetic trios. The E23K allele was associated with diabetes in the case-control study (odds ratio [OR] 1.18 [95% CI 1.04-1.34], P = 0.01) but did not show familial association with diabetes. Neither the exon 16 nor the exon 18 ABCC8 variants were associated with diabetes (1.04 [0.91-1.18], P = 0.57; 0.93 [0.71-1.23], P = 0.63, respectively). Meta-analysis of all case-control data showed that the E23K allele was associated with type 2 diabetes (K allele OR 1.23 [1.12-1.36], P = 0.000015; KK genotype 1.65 [1.34-2.02], P = 0.000002); but the ABCC8 variants were not associated. Our results confirm that E23K increases risk of type 2 diabetes and show that large-scale association studies are important for the identification of diabetes susceptibility alleles."}

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"12540637-0#166#170#geners5219","span":{"begin":166,"end":170},"obj":"geners5219"},{"id":"12540637-0#198#213#diseaseC0011860","span":{"begin":198,"end":213},"obj":"diseaseC0011860"},{"id":"12540637-2#62#68#geners142577961","span":{"begin":499,"end":505},"obj":"geners142577961"},{"id":"12540637-2#118#133#diseaseC0011860","span":{"begin":555,"end":570},"obj":"diseaseC0011860"},{"id":"12540637-7#25#29#geners5219","span":{"begin":1438,"end":1442},"obj":"geners5219"},{"id":"12540637-7#150#158#diseaseC0011847","span":{"begin":1563,"end":1571},"obj":"diseaseC0011847"},{"id":"12540637-7#150#158#diseaseC0011849","span":{"begin":1563,"end":1571},"obj":"diseaseC0011849"}],"relations":[{"id":"166#170#geners5219198#213#diseaseC0011860","pred":"associated_with","subj":"12540637-0#166#170#geners5219","obj":"12540637-0#198#213#diseaseC0011860"},{"id":"62#68#geners142577961118#133#diseaseC0011860","pred":"associated_with","subj":"12540637-2#62#68#geners142577961","obj":"12540637-2#118#133#diseaseC0011860"},{"id":"25#29#geners5219150#158#diseaseC0011847","pred":"associated_with","subj":"12540637-7#25#29#geners5219","obj":"12540637-7#150#158#diseaseC0011847"},{"id":"25#29#geners5219150#158#diseaseC0011849","pred":"associated_with","subj":"12540637-7#25#29#geners5219","obj":"12540637-7#150#158#diseaseC0011849"}],"text":"Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.\nThe genes ABCC8 and KCNJ11, which encode the subunits sulfonylurea receptor 1 (SUR1) and inwardly rectifying potassium channel (Kir6.2) of the beta-cell ATP-sensitive potassium (K(ATP)) channel, control insulin secretion. Common polymorphisms in these genes (ABCC8 exon 16-3t/c, exon 18 T/C, KCNJ11 E23K) have been variably associated with type 2 diabetes, but no large ( approximately 2,000 subjects) case-control studies have been performed. We evaluated the role of these three variants by studying 2,486 U.K. subjects: 854 with type 2 diabetes, 1,182 population control subjects, and 150 parent-offspring type 2 diabetic trios. The E23K allele was associated with diabetes in the case-control study (odds ratio [OR] 1.18 [95% CI 1.04-1.34], P = 0.01) but did not show familial association with diabetes. Neither the exon 16 nor the exon 18 ABCC8 variants were associated with diabetes (1.04 [0.91-1.18], P = 0.57; 0.93 [0.71-1.23], P = 0.63, respectively). Meta-analysis of all case-control data showed that the E23K allele was associated with type 2 diabetes (K allele OR 1.23 [1.12-1.36], P = 0.000015; KK genotype 1.65 [1.34-2.02], P = 0.000002); but the ABCC8 variants were not associated. Our results confirm that E23K increases risk of type 2 diabetes and show that large-scale association studies are important for the identification of diabetes susceptibility alleles."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"12540637-0#117#123#gene3767","span":{"begin":117,"end":123},"obj":"gene3767"},{"id":"12540637-0#129#133#gene6833","span":{"begin":129,"end":133},"obj":"gene6833"},{"id":"12540637-0#135#140#gene6833","span":{"begin":135,"end":140},"obj":"gene6833"},{"id":"12540637-0#159#165#gene3767","span":{"begin":159,"end":165},"obj":"gene3767"},{"id":"12540637-0#198#213#diseaseC0011860","span":{"begin":198,"end":213},"obj":"diseaseC0011860"},{"id":"12540637-5#36#41#gene6833","span":{"begin":1059,"end":1064},"obj":"gene6833"},{"id":"12540637-5#72#80#diseaseC0011847","span":{"begin":1095,"end":1103},"obj":"diseaseC0011847"},{"id":"12540637-5#72#80#diseaseC0011849","span":{"begin":1095,"end":1103},"obj":"diseaseC0011849"}],"relations":[{"id":"117#123#gene3767198#213#diseaseC0011860","pred":"associated_with","subj":"12540637-0#117#123#gene3767","obj":"12540637-0#198#213#diseaseC0011860"},{"id":"129#133#gene6833198#213#diseaseC0011860","pred":"associated_with","subj":"12540637-0#129#133#gene6833","obj":"12540637-0#198#213#diseaseC0011860"},{"id":"135#140#gene6833198#213#diseaseC0011860","pred":"associated_with","subj":"12540637-0#135#140#gene6833","obj":"12540637-0#198#213#diseaseC0011860"},{"id":"159#165#gene3767198#213#diseaseC0011860","pred":"associated_with","subj":"12540637-0#159#165#gene3767","obj":"12540637-0#198#213#diseaseC0011860"},{"id":"36#41#gene683372#80#diseaseC0011847","pred":"associated_with","subj":"12540637-5#36#41#gene6833","obj":"12540637-5#72#80#diseaseC0011847"},{"id":"36#41#gene683372#80#diseaseC0011849","pred":"associated_with","subj":"12540637-5#36#41#gene6833","obj":"12540637-5#72#80#diseaseC0011849"}],"text":"Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.\nThe genes ABCC8 and KCNJ11, which encode the subunits sulfonylurea receptor 1 (SUR1) and inwardly rectifying potassium channel (Kir6.2) of the beta-cell ATP-sensitive potassium (K(ATP)) channel, control insulin secretion. Common polymorphisms in these genes (ABCC8 exon 16-3t/c, exon 18 T/C, KCNJ11 E23K) have been variably associated with type 2 diabetes, but no large ( approximately 2,000 subjects) case-control studies have been performed. We evaluated the role of these three variants by studying 2,486 U.K. subjects: 854 with type 2 diabetes, 1,182 population control subjects, and 150 parent-offspring type 2 diabetic trios. The E23K allele was associated with diabetes in the case-control study (odds ratio [OR] 1.18 [95% CI 1.04-1.34], P = 0.01) but did not show familial association with diabetes. Neither the exon 16 nor the exon 18 ABCC8 variants were associated with diabetes (1.04 [0.91-1.18], P = 0.57; 0.93 [0.71-1.23], P = 0.63, respectively). Meta-analysis of all case-control data showed that the E23K allele was associated with type 2 diabetes (K allele OR 1.23 [1.12-1.36], P = 0.000015; KK genotype 1.65 [1.34-2.02], P = 0.000002); but the ABCC8 variants were not associated. Our results confirm that E23K increases risk of type 2 diabetes and show that large-scale association studies are important for the identification of diabetes susceptibility alleles."}

{"project":"PIR-corpus1","denotations":[{"id":"T1","span":{"begin":87,"end":115},"obj":"protein"},{"id":"T2","span":{"begin":129,"end":133},"obj":"protein"},{"id":"T3","span":{"begin":260,"end":281},"obj":"protein"},{"id":"T4","span":{"begin":294,"end":298},"obj":"acronym"},{"id":"T5","span":{"begin":304,"end":341},"obj":"protein"},{"id":"T6","span":{"begin":343,"end":347},"obj":"protein"},{"id":"T7","span":{"begin":368,"end":408},"obj":"protein"},{"id":"T8","span":{"begin":418,"end":425},"obj":"protein"}],"text":"Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.\nThe genes ABCC8 and KCNJ11, which encode the subunits sulfonylurea receptor 1 (SUR1) and inwardly rectifying potassium channel (Kir6.2) of the beta-cell ATP-sensitive potassium (K(ATP)) channel, control insulin secretion. Common polymorphisms in these genes (ABCC8 exon 16-3t/c, exon 18 T/C, KCNJ11 E23K) have been variably associated with type 2 diabetes, but no large ( approximately 2,000 subjects) case-control studies have been performed. We evaluated the role of these three variants by studying 2,486 U.K. subjects: 854 with type 2 diabetes, 1,182 population control subjects, and 150 parent-offspring type 2 diabetic trios. The E23K allele was associated with diabetes in the case-control study (odds ratio [OR] 1.18 [95% CI 1.04-1.34], P = 0.01) but did not show familial association with diabetes. Neither the exon 16 nor the exon 18 ABCC8 variants were associated with diabetes (1.04 [0.91-1.18], P = 0.57; 0.93 [0.71-1.23], P = 0.63, respectively). Meta-analysis of all case-control data showed that the E23K allele was associated with type 2 diabetes (K allele OR 1.23 [1.12-1.36], P = 0.000015; KK genotype 1.65 [1.34-2.02], P = 0.000002); but the ABCC8 variants were not associated. Our results confirm that E23K increases risk of type 2 diabetes and show that large-scale association studies are important for the identification of diabetes susceptibility alleles."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":507,"end":513},"obj":"gene:3767"},{"id":"T1","span":{"begin":555,"end":570},"obj":"disease:C0011860"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.\nThe genes ABCC8 and KCNJ11, which encode the subunits sulfonylurea receptor 1 (SUR1) and inwardly rectifying potassium channel (Kir6.2) of the beta-cell ATP-sensitive potassium (K(ATP)) channel, control insulin secretion. Common polymorphisms in these genes (ABCC8 exon 16-3t/c, exon 18 T/C, KCNJ11 E23K) have been variably associated with type 2 diabetes, but no large ( approximately 2,000 subjects) case-control studies have been performed. We evaluated the role of these three variants by studying 2,486 U.K. subjects: 854 with type 2 diabetes, 1,182 population control subjects, and 150 parent-offspring type 2 diabetic trios. The E23K allele was associated with diabetes in the case-control study (odds ratio [OR] 1.18 [95% CI 1.04-1.34], P = 0.01) but did not show familial association with diabetes. Neither the exon 16 nor the exon 18 ABCC8 variants were associated with diabetes (1.04 [0.91-1.18], P = 0.57; 0.93 [0.71-1.23], P = 0.63, respectively). Meta-analysis of all case-control data showed that the E23K allele was associated with type 2 diabetes (K allele OR 1.23 [1.12-1.36], P = 0.000015; KK genotype 1.65 [1.34-2.02], P = 0.000002); but the ABCC8 variants were not associated. Our results confirm that E23K increases risk of type 2 diabetes and show that large-scale association studies are important for the identification of diabetes susceptibility alleles."}