PubMed:17224473 JSONTXT

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":382,"end":413},"obj":"gene:1734"},{"id":"T1","span":{"begin":498,"end":510},"obj":"disease:C0020538"},{"id":"T2","span":{"begin":1244,"end":1275},"obj":"gene:1734"},{"id":"T3","span":{"begin":1314,"end":1326},"obj":"disease:C0020538"}],"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":"Ala92 type 2 deiodinase allele increases risk for the development of hypertension.\nAccumulating evidence suggests that genes of the hypothalamic-pituitary-thyroid pathway influence susceptibility to hypertension. Type 2 iodothyronine deiodinase is responsible for the conversion of thyroxine to tri-iodothyronine for use in peripheral tissues. The present study evaluated whether a type 2 iodothyronine deiodinase nonsynonymous polymorphism, threonine 92 to alanine (Thr92Ala), is a determinant of hypertension susceptibility. A total of 372 euthyroid subjects were genotyped for Thr92Ala polymorphism using the Sequenom MassARRAY platform. Associations with hypertension and hypertension-related intermediate phenotypes were performed with generalized estimating equations. Type 2 iodothyronine deiodinase Thr92Ala allele frequencies differed significantly between hypertensive and normotensive subjects, with an excess of Ala92 carriers in hypertensive compared with normotensive subjects (64.8% versus 47.1%; P=0.011). Adjusted for age, gender and race, the estimated odds ratio for hypertension in Ala92 allele carriers compared with Thr92 homozygotes was 2.11 (95% CI: 1.15 to 3.89). Among euthyroid adults, the common Ala92 allele of the type 2 iodothyronine deiodinase increases risk for the development of hypertension. These data support an important role for genetic variation in the hypothalamic-pituitary-thyroid pathway in influencing susceptibility to hypertension."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":199,"end":211},"obj":"HP_0000822"},{"id":"T2","span":{"begin":498,"end":510},"obj":"HP_0000822"},{"id":"T3","span":{"begin":659,"end":671},"obj":"HP_0000822"},{"id":"T4","span":{"begin":676,"end":688},"obj":"HP_0000822"},{"id":"T5","span":{"begin":866,"end":878},"obj":"HP_0000822"},{"id":"T6","span":{"begin":942,"end":954},"obj":"HP_0000822"},{"id":"T7","span":{"begin":1086,"end":1098},"obj":"HP_0000822"},{"id":"T8","span":{"begin":1314,"end":1326},"obj":"HP_0000822"},{"id":"T9","span":{"begin":1466,"end":1478},"obj":"HP_0000822"}],"text":"Ala92 type 2 deiodinase allele increases risk for the development of hypertension.\nAccumulating evidence suggests that genes of the hypothalamic-pituitary-thyroid pathway influence susceptibility to hypertension. Type 2 iodothyronine deiodinase is responsible for the conversion of thyroxine to tri-iodothyronine for use in peripheral tissues. The present study evaluated whether a type 2 iodothyronine deiodinase nonsynonymous polymorphism, threonine 92 to alanine (Thr92Ala), is a determinant of hypertension susceptibility. A total of 372 euthyroid subjects were genotyped for Thr92Ala polymorphism using the Sequenom MassARRAY platform. Associations with hypertension and hypertension-related intermediate phenotypes were performed with generalized estimating equations. Type 2 iodothyronine deiodinase Thr92Ala allele frequencies differed significantly between hypertensive and normotensive subjects, with an excess of Ala92 carriers in hypertensive compared with normotensive subjects (64.8% versus 47.1%; P=0.011). Adjusted for age, gender and race, the estimated odds ratio for hypertension in Ala92 allele carriers compared with Thr92 homozygotes was 2.11 (95% CI: 1.15 to 3.89). Among euthyroid adults, the common Ala92 allele of the type 2 iodothyronine deiodinase increases risk for the development of hypertension. These data support an important role for genetic variation in the hypothalamic-pituitary-thyroid pathway in influencing susceptibility to hypertension."}

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"17224473-3#123#131#geners225014","span":{"begin":467,"end":475},"obj":"geners225014"},{"id":"17224473-3#98#121#geners225014","span":{"begin":442,"end":465},"obj":"geners225014"},{"id":"17224473-3#154#166#diseaseC0020538","span":{"begin":498,"end":510},"obj":"diseaseC0020538"}],"relations":[{"id":"123#131#geners225014154#166#diseaseC0020538","pred":"associated_with","subj":"17224473-3#123#131#geners225014","obj":"17224473-3#154#166#diseaseC0020538"},{"id":"98#121#geners225014154#166#diseaseC0020538","pred":"associated_with","subj":"17224473-3#98#121#geners225014","obj":"17224473-3#154#166#diseaseC0020538"}],"text":"Ala92 type 2 deiodinase allele increases risk for the development of hypertension.\nAccumulating evidence suggests that genes of the hypothalamic-pituitary-thyroid pathway influence susceptibility to hypertension. Type 2 iodothyronine deiodinase is responsible for the conversion of thyroxine to tri-iodothyronine for use in peripheral tissues. The present study evaluated whether a type 2 iodothyronine deiodinase nonsynonymous polymorphism, threonine 92 to alanine (Thr92Ala), is a determinant of hypertension susceptibility. A total of 372 euthyroid subjects were genotyped for Thr92Ala polymorphism using the Sequenom MassARRAY platform. Associations with hypertension and hypertension-related intermediate phenotypes were performed with generalized estimating equations. Type 2 iodothyronine deiodinase Thr92Ala allele frequencies differed significantly between hypertensive and normotensive subjects, with an excess of Ala92 carriers in hypertensive compared with normotensive subjects (64.8% versus 47.1%; P=0.011). Adjusted for age, gender and race, the estimated odds ratio for hypertension in Ala92 allele carriers compared with Thr92 homozygotes was 2.11 (95% CI: 1.15 to 3.89). Among euthyroid adults, the common Ala92 allele of the type 2 iodothyronine deiodinase increases risk for the development of hypertension. These data support an important role for genetic variation in the hypothalamic-pituitary-thyroid pathway in influencing susceptibility to hypertension."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"17224473-8#55#86#gene1734","span":{"begin":1244,"end":1275},"obj":"gene1734"},{"id":"17224473-8#125#137#diseaseC0020538","span":{"begin":1314,"end":1326},"obj":"diseaseC0020538"}],"relations":[{"id":"55#86#gene1734125#137#diseaseC0020538","pred":"associated_with","subj":"17224473-8#55#86#gene1734","obj":"17224473-8#125#137#diseaseC0020538"}],"text":"Ala92 type 2 deiodinase allele increases risk for the development of hypertension.\nAccumulating evidence suggests that genes of the hypothalamic-pituitary-thyroid pathway influence susceptibility to hypertension. Type 2 iodothyronine deiodinase is responsible for the conversion of thyroxine to tri-iodothyronine for use in peripheral tissues. The present study evaluated whether a type 2 iodothyronine deiodinase nonsynonymous polymorphism, threonine 92 to alanine (Thr92Ala), is a determinant of hypertension susceptibility. A total of 372 euthyroid subjects were genotyped for Thr92Ala polymorphism using the Sequenom MassARRAY platform. Associations with hypertension and hypertension-related intermediate phenotypes were performed with generalized estimating equations. Type 2 iodothyronine deiodinase Thr92Ala allele frequencies differed significantly between hypertensive and normotensive subjects, with an excess of Ala92 carriers in hypertensive compared with normotensive subjects (64.8% versus 47.1%; P=0.011). Adjusted for age, gender and race, the estimated odds ratio for hypertension in Ala92 allele carriers compared with Thr92 homozygotes was 2.11 (95% CI: 1.15 to 3.89). Among euthyroid adults, the common Ala92 allele of the type 2 iodothyronine deiodinase increases risk for the development of hypertension. These data support an important role for genetic variation in the hypothalamic-pituitary-thyroid pathway in influencing susceptibility to hypertension."}