PubMed:12639765 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/12639765","sourcedb":"PubMed","sourceid":"12639765","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/12639765","text":"NEUROD polymorphism Ala45Thr is associated with Type 1 diabetes mellitus in Czech children.\nAssociation of the NEUROD Ala45Thr polymorphism with Type 1 diabetes mellitus (DM) has been found in some but not all populations. We performed a study on the association of two NEUROD exon 2 polymorphisms, the Ala45Thr and the Pro197His, with childhood-onset Type 1 DM in the Czech population. We compared 285 children with Type 1 DM diagnosed under the age of 15 years with 289 non-diabetic control children. The genotypes were determined using novel real-time allele-specific PCR assays in the TaqMan format, and data were analysed using logistic regression. The numbers of subjects with codon 45 genotypes Ala/Ala, Ala/Thr, Thr/Thr were 95, 145, 45 among cases and 117, 130, 42 among controls. Thr45 phenotypic positivity was associated with a significant risk of Type 1 DM (OR=2.01, CI 95% 1.25-3.24) in a multivariate logistic regression model involving also the insulin gene -23HphI genotype and the presence of Type 1 DM-associated HLA-DQB1*0302-DQA1*03 (DQ8) and DQB1*0201-DQA1*05 (DQ2) molecules. No association was observed for the Pro197His mutation which was carried by 5.3% cases and 5.9% controls. Our results confirm that the NEUROD Ala45Thr polymorphism is associated with childhood-onset Type 1 DM.","tracks":[{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":111,"end":117},"obj":"gene:4760"},{"id":"T1","span":{"begin":145,"end":169},"obj":"disease:C0011854"},{"id":"T2","span":{"begin":111,"end":117},"obj":"gene:4760"},{"id":"T3","span":{"begin":171,"end":173},"obj":"disease:C0011854"},{"id":"T4","span":{"begin":1234,"end":1240},"obj":"gene:4760"},{"id":"T5","span":{"begin":1305,"end":1307},"obj":"disease:C0011854"}],"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"}],"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"}]},{"project":"DisGeNET5_variant_disease","denotations":[{"id":"12639765-0#20#28#geners1801262","span":{"begin":20,"end":28},"obj":"geners1801262"},{"id":"12639765-0#48#72#diseaseC0011854","span":{"begin":48,"end":72},"obj":"diseaseC0011854"},{"id":"12639765-2#97#106#geners8192556","span":{"begin":320,"end":329},"obj":"geners8192556"},{"id":"12639765-2#136#138#diseaseC0011854","span":{"begin":359,"end":361},"obj":"diseaseC0011854"}],"relations":[{"id":"20#28#geners180126248#72#diseaseC0011854","pred":"associated_with","subj":"12639765-0#20#28#geners1801262","obj":"12639765-0#48#72#diseaseC0011854"},{"id":"97#106#geners8192556136#138#diseaseC0011854","pred":"associated_with","subj":"12639765-2#97#106#geners8192556","obj":"12639765-2#136#138#diseaseC0011854"}],"attributes":[{"subj":"12639765-0#20#28#geners1801262","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"12639765-0#48#72#diseaseC0011854","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"12639765-2#97#106#geners8192556","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"12639765-2#136#138#diseaseC0011854","pred":"source","obj":"DisGeNET5_variant_disease"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"12639765-0#0#6#gene4760","span":{"begin":0,"end":6},"obj":"gene4760"},{"id":"12639765-0#48#72#diseaseC0011854","span":{"begin":48,"end":72},"obj":"diseaseC0011854"},{"id":"12639765-6#242#250#gene3119","span":{"begin":1032,"end":1040},"obj":"gene3119"},{"id":"12639765-6#77#79#diseaseC0011854","span":{"begin":867,"end":869},"obj":"diseaseC0011854"},{"id":"12639765-6#228#230#diseaseC0011854","span":{"begin":1018,"end":1020},"obj":"diseaseC0011854"}],"relations":[{"id":"0#6#gene476048#72#diseaseC0011854","pred":"associated_with","subj":"12639765-0#0#6#gene4760","obj":"12639765-0#48#72#diseaseC0011854"},{"id":"242#250#gene311977#79#diseaseC0011854","pred":"associated_with","subj":"12639765-6#242#250#gene3119","obj":"12639765-6#77#79#diseaseC0011854"},{"id":"242#250#gene3119228#230#diseaseC0011854","pred":"associated_with","subj":"12639765-6#242#250#gene3119","obj":"12639765-6#228#230#diseaseC0011854"}],"attributes":[{"subj":"12639765-0#0#6#gene4760","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"12639765-0#48#72#diseaseC0011854","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"12639765-6#242#250#gene3119","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"12639765-6#77#79#diseaseC0011854","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"12639765-6#228#230#diseaseC0011854","pred":"source","obj":"DisGeNET5_gene_disease"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"DisGeNET","color":"#93e9ec","default":true},{"id":"DisGeNET5_variant_disease","color":"#ecd493"},{"id":"DisGeNET5_gene_disease","color":"#ba93ec"}]}]}}