PubMed:10100091 JSONTXT

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    DisGeNET5_variant_disease

    {"project":"DisGeNET5_variant_disease","denotations":[{"id":"10100091-0#15#23#geners4994","span":{"begin":15,"end":23},"obj":"geners4994"},{"id":"10100091-0#74#96#diseaseC0085580","span":{"begin":74,"end":96},"obj":"diseaseC0085580"},{"id":"10100091-9#52#60#geners4994","span":{"begin":1549,"end":1557},"obj":"geners4994"},{"id":"10100091-9#160#179#diseaseC0020538","span":{"begin":1657,"end":1676},"obj":"diseaseC0020538"}],"relations":[{"id":"15#23#geners499474#96#diseaseC0085580","pred":"associated_with","subj":"10100091-0#15#23#geners4994","obj":"10100091-0#74#96#diseaseC0085580"},{"id":"52#60#geners4994160#179#diseaseC0020538","pred":"associated_with","subj":"10100091-9#52#60#geners4994","obj":"10100091-9#160#179#diseaseC0020538"}],"text":"Association of Trp64Arg beta 3-adrenergic-receptor gene polymorphism with essential hypertension in the Sardinian population.\nOBJECTIVE: To evaluate the possible association of three candidate gene polymorphisms with essential hypertension in the genetically homogeneous Sardinian population.\nSUBJECTS AND METHODS: We studied 494 unrelated, nondiabetic subjects, 213 (43.2%) with essential hypertension. All subjects underwent a 75 g oral glucose tolerance test with determination of glycemia and insulinemia and serum lipids. The polymorphisms evaluated comprised Trp64Arg of the beta 3-adrenergic receptor, Gly40Ser of the glucagon receptor gene and the insertion/deletion polymorphism of the angiotensin converting enzyme (ACE) gene.\nRESULTS: Among the overall population studied, 48 (9.7%) were heterozygous carriers of the Trp64Arg polymorphism. The frequency of the Trp64Arg variant was significantly higher in hypertensives (13.6%) than normotensives (6.8%; chi 2 5.73, P = 0.017). The 48 subjects with the Trp64Arg variant had significantly higher (P \u003c 0.049) serum triglyceride levels than the 446 with the Trp64Trp variant, while no significant differences were observed, either fasting or during the 75 g oral glucose tolerance test, in glycemia and insulinemia. No differences were found between hypertensive and normotensive subjects for ACE gene insertion/deletion polymorphism nor in the frequency of the Gly40Ser coding change in exon 2 of the glucagon receptor gene.\nCONCLUSIONS: Our results are consistent with the thesis that the Trp64Arg polymorphism of the beta 3-adrenergic receptor gene is associated more often with the condition of high blood pressure than with normal blood pressure."}

    DisGeNET5_gene_disease

    {"project":"DisGeNET5_gene_disease","denotations":[{"id":"10100091-0#24#50#gene155","span":{"begin":24,"end":50},"obj":"gene155"},{"id":"10100091-0#74#96#diseaseC0085580","span":{"begin":74,"end":96},"obj":"diseaseC0085580"},{"id":"10100091-9#81#107#gene155","span":{"begin":1578,"end":1604},"obj":"gene155"},{"id":"10100091-9#160#179#diseaseC0020538","span":{"begin":1657,"end":1676},"obj":"diseaseC0020538"}],"relations":[{"id":"24#50#gene15574#96#diseaseC0085580","pred":"associated_with","subj":"10100091-0#24#50#gene155","obj":"10100091-0#74#96#diseaseC0085580"},{"id":"81#107#gene155160#179#diseaseC0020538","pred":"associated_with","subj":"10100091-9#81#107#gene155","obj":"10100091-9#160#179#diseaseC0020538"}],"text":"Association of Trp64Arg beta 3-adrenergic-receptor gene polymorphism with essential hypertension in the Sardinian population.\nOBJECTIVE: To evaluate the possible association of three candidate gene polymorphisms with essential hypertension in the genetically homogeneous Sardinian population.\nSUBJECTS AND METHODS: We studied 494 unrelated, nondiabetic subjects, 213 (43.2%) with essential hypertension. All subjects underwent a 75 g oral glucose tolerance test with determination of glycemia and insulinemia and serum lipids. The polymorphisms evaluated comprised Trp64Arg of the beta 3-adrenergic receptor, Gly40Ser of the glucagon receptor gene and the insertion/deletion polymorphism of the angiotensin converting enzyme (ACE) gene.\nRESULTS: Among the overall population studied, 48 (9.7%) were heterozygous carriers of the Trp64Arg polymorphism. The frequency of the Trp64Arg variant was significantly higher in hypertensives (13.6%) than normotensives (6.8%; chi 2 5.73, P = 0.017). The 48 subjects with the Trp64Arg variant had significantly higher (P \u003c 0.049) serum triglyceride levels than the 446 with the Trp64Trp variant, while no significant differences were observed, either fasting or during the 75 g oral glucose tolerance test, in glycemia and insulinemia. No differences were found between hypertensive and normotensive subjects for ACE gene insertion/deletion polymorphism nor in the frequency of the Gly40Ser coding change in exon 2 of the glucagon receptor gene.\nCONCLUSIONS: Our results are consistent with the thesis that the Trp64Arg polymorphism of the beta 3-adrenergic receptor gene is associated more often with the condition of high blood pressure than with normal blood pressure."}

    DisGeNET

    {"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":24,"end":50},"obj":"gene:155"},{"id":"T1","span":{"begin":74,"end":96},"obj":"disease:C0085580"},{"id":"T2","span":{"begin":1578,"end":1604},"obj":"gene:155"},{"id":"T3","span":{"begin":1657,"end":1676},"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":"Association of Trp64Arg beta 3-adrenergic-receptor gene polymorphism with essential hypertension in the Sardinian population.\nOBJECTIVE: To evaluate the possible association of three candidate gene polymorphisms with essential hypertension in the genetically homogeneous Sardinian population.\nSUBJECTS AND METHODS: We studied 494 unrelated, nondiabetic subjects, 213 (43.2%) with essential hypertension. All subjects underwent a 75 g oral glucose tolerance test with determination of glycemia and insulinemia and serum lipids. The polymorphisms evaluated comprised Trp64Arg of the beta 3-adrenergic receptor, Gly40Ser of the glucagon receptor gene and the insertion/deletion polymorphism of the angiotensin converting enzyme (ACE) gene.\nRESULTS: Among the overall population studied, 48 (9.7%) were heterozygous carriers of the Trp64Arg polymorphism. The frequency of the Trp64Arg variant was significantly higher in hypertensives (13.6%) than normotensives (6.8%; chi 2 5.73, P = 0.017). The 48 subjects with the Trp64Arg variant had significantly higher (P \u003c 0.049) serum triglyceride levels than the 446 with the Trp64Trp variant, while no significant differences were observed, either fasting or during the 75 g oral glucose tolerance test, in glycemia and insulinemia. No differences were found between hypertensive and normotensive subjects for ACE gene insertion/deletion polymorphism nor in the frequency of the Gly40Ser coding change in exon 2 of the glucagon receptor gene.\nCONCLUSIONS: Our results are consistent with the thesis that the Trp64Arg polymorphism of the beta 3-adrenergic receptor gene is associated more often with the condition of high blood pressure than with normal blood pressure."}

    PubmedHPO

    {"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":227,"end":239},"obj":"HP_0000822"}],"text":"Association of Trp64Arg beta 3-adrenergic-receptor gene polymorphism with essential hypertension in the Sardinian population.\nOBJECTIVE: To evaluate the possible association of three candidate gene polymorphisms with essential hypertension in the genetically homogeneous Sardinian population.\nSUBJECTS AND METHODS: We studied 494 unrelated, nondiabetic subjects, 213 (43.2%) with essential hypertension. All subjects underwent a 75 g oral glucose tolerance test with determination of glycemia and insulinemia and serum lipids. The polymorphisms evaluated comprised Trp64Arg of the beta 3-adrenergic receptor, Gly40Ser of the glucagon receptor gene and the insertion/deletion polymorphism of the angiotensin converting enzyme (ACE) gene.\nRESULTS: Among the overall population studied, 48 (9.7%) were heterozygous carriers of the Trp64Arg polymorphism. The frequency of the Trp64Arg variant was significantly higher in hypertensives (13.6%) than normotensives (6.8%; chi 2 5.73, P = 0.017). The 48 subjects with the Trp64Arg variant had significantly higher (P \u003c 0.049) serum triglyceride levels than the 446 with the Trp64Trp variant, while no significant differences were observed, either fasting or during the 75 g oral glucose tolerance test, in glycemia and insulinemia. No differences were found between hypertensive and normotensive subjects for ACE gene insertion/deletion polymorphism nor in the frequency of the Gly40Ser coding change in exon 2 of the glucagon receptor gene.\nCONCLUSIONS: Our results are consistent with the thesis that the Trp64Arg polymorphism of the beta 3-adrenergic receptor gene is associated more often with the condition of high blood pressure than with normal blood pressure."}