PubMed:23383292 JSON TXT

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DisGeNET

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":0,"end":4},"obj":"gene:80308"},{"id":"T1","span":{"begin":43,"end":66},"obj":"disease:C1956346"},{"id":"T2","span":{"begin":0,"end":4},"obj":"gene:80308"},{"id":"T3","span":{"begin":43,"end":66},"obj":"disease:C0010068"},{"id":"T4","span":{"begin":0,"end":4},"obj":"gene:80308"},{"id":"T5","span":{"begin":43,"end":66},"obj":"disease:C0010054"},{"id":"T6","span":{"begin":277,"end":281},"obj":"gene:80308"},{"id":"T7","span":{"begin":378,"end":381},"obj":"disease:C1956346"},{"id":"T8","span":{"begin":277,"end":281},"obj":"gene:80308"},{"id":"T9","span":{"begin":353,"end":376},"obj":"disease:C1956346"}],"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"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"FADS gene polymorphisms confer the risk of coronary artery disease in a Chinese Han population through the altered desaturase activities: based on high-resolution melting analysis.\nOBJECTIVE: We explored the desaturase activities and the correlation of fatty acid desaturases (FADS) gene single nucleotide polymorphisms (SNPs) with plasma fatty acid in coronary artery disease (CAD) patients in a Chinese Han population.\nMETHODS: Plasma fatty acids were measured by gas chromatography in CAD patients (n = 505) and a control group (n = 510). Five SNPs in the FADS gene were genotyped with high-resolution melting (HRM) methods.\nRESULTS: After adjustment, D6D activity, assessed as arachidonic acid (AA, C20:4n-6)/linoleic acid (LA, C18:2n-6), was higher in CAD patients (p\u003c0.001). D9D activity, which was estimated as the ratio of palmitoleic acid (C16:1)/palmitic acid (C16:0) or oleic acid (C18:1n-9) to stearic acid (C18:0), was also increased (p\u003c0.001). The genotype distributions of rs174537 G\u003eT and rs174460 C\u003eT were different between the two groups. The rs174537 T allele was associated with a lower risk of CAD [OR 0.743, 95% CI (0.624, 0.884), p = 0.001]. Carriers of the rs174460 C allele were associated with a higher risk of CAD [OR 1.357, 95% CI (1.106, 1.665), p = 0.003].\nCONCLUSIONS: We firstly report that the rs174460 C allele is associated with a higher risk of CAD, and confirm that the rs174537 T allele is associated with a lower risk of CAD. Our results indicate that FADS gene polymorphisms are likely to influence plasma fatty acid concentrations and desaturase activities."}

Allie

{"project":"Allie","denotations":[{"id":"SS1_23383292_2_0","span":{"begin":253,"end":275},"obj":"expanded"},{"id":"SS2_23383292_2_0","span":{"begin":277,"end":281},"obj":"abbr"},{"id":"SS1_23383292_2_1","span":{"begin":288,"end":319},"obj":"expanded"},{"id":"SS2_23383292_2_1","span":{"begin":321,"end":325},"obj":"abbr"},{"id":"SS1_23383292_2_2","span":{"begin":353,"end":376},"obj":"expanded"},{"id":"SS2_23383292_2_2","span":{"begin":378,"end":381},"obj":"abbr"},{"id":"SS1_23383292_5_0","span":{"begin":589,"end":612},"obj":"expanded"},{"id":"SS2_23383292_5_0","span":{"begin":614,"end":617},"obj":"abbr"}],"relations":[{"id":"AE1_23383292_2_0","pred":"abbreviatedTo","subj":"SS1_23383292_2_0","obj":"SS2_23383292_2_0"},{"id":"AE1_23383292_2_1","pred":"abbreviatedTo","subj":"SS1_23383292_2_1","obj":"SS2_23383292_2_1"},{"id":"AE1_23383292_2_2","pred":"abbreviatedTo","subj":"SS1_23383292_2_2","obj":"SS2_23383292_2_2"},{"id":"AE1_23383292_5_0","pred":"abbreviatedTo","subj":"SS1_23383292_5_0","obj":"SS2_23383292_5_0"}],"text":"FADS gene polymorphisms confer the risk of coronary artery disease in a Chinese Han population through the altered desaturase activities: based on high-resolution melting analysis.\nOBJECTIVE: We explored the desaturase activities and the correlation of fatty acid desaturases (FADS) gene single nucleotide polymorphisms (SNPs) with plasma fatty acid in coronary artery disease (CAD) patients in a Chinese Han population.\nMETHODS: Plasma fatty acids were measured by gas chromatography in CAD patients (n = 505) and a control group (n = 510). Five SNPs in the FADS gene were genotyped with high-resolution melting (HRM) methods.\nRESULTS: After adjustment, D6D activity, assessed as arachidonic acid (AA, C20:4n-6)/linoleic acid (LA, C18:2n-6), was higher in CAD patients (p\u003c0.001). D9D activity, which was estimated as the ratio of palmitoleic acid (C16:1)/palmitic acid (C16:0) or oleic acid (C18:1n-9) to stearic acid (C18:0), was also increased (p\u003c0.001). The genotype distributions of rs174537 G\u003eT and rs174460 C\u003eT were different between the two groups. The rs174537 T allele was associated with a lower risk of CAD [OR 0.743, 95% CI (0.624, 0.884), p = 0.001]. Carriers of the rs174460 C allele were associated with a higher risk of CAD [OR 1.357, 95% CI (1.106, 1.665), p = 0.003].\nCONCLUSIONS: We firstly report that the rs174460 C allele is associated with a higher risk of CAD, and confirm that the rs174537 T allele is associated with a lower risk of CAD. Our results indicate that FADS gene polymorphisms are likely to influence plasma fatty acid concentrations and desaturase activities."}

PubmedHPO

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":353,"end":376},"obj":"HP_0001677"}],"text":"FADS gene polymorphisms confer the risk of coronary artery disease in a Chinese Han population through the altered desaturase activities: based on high-resolution melting analysis.\nOBJECTIVE: We explored the desaturase activities and the correlation of fatty acid desaturases (FADS) gene single nucleotide polymorphisms (SNPs) with plasma fatty acid in coronary artery disease (CAD) patients in a Chinese Han population.\nMETHODS: Plasma fatty acids were measured by gas chromatography in CAD patients (n = 505) and a control group (n = 510). Five SNPs in the FADS gene were genotyped with high-resolution melting (HRM) methods.\nRESULTS: After adjustment, D6D activity, assessed as arachidonic acid (AA, C20:4n-6)/linoleic acid (LA, C18:2n-6), was higher in CAD patients (p\u003c0.001). D9D activity, which was estimated as the ratio of palmitoleic acid (C16:1)/palmitic acid (C16:0) or oleic acid (C18:1n-9) to stearic acid (C18:0), was also increased (p\u003c0.001). The genotype distributions of rs174537 G\u003eT and rs174460 C\u003eT were different between the two groups. The rs174537 T allele was associated with a lower risk of CAD [OR 0.743, 95% CI (0.624, 0.884), p = 0.001]. Carriers of the rs174460 C allele were associated with a higher risk of CAD [OR 1.357, 95% CI (1.106, 1.665), p = 0.003].\nCONCLUSIONS: We firstly report that the rs174460 C allele is associated with a higher risk of CAD, and confirm that the rs174537 T allele is associated with a lower risk of CAD. Our results indicate that FADS gene polymorphisms are likely to influence plasma fatty acid concentrations and desaturase activities."}

DisGeNET5_variant_disease

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"23383292-9#107#115#geners174537","span":{"begin":1407,"end":1415},"obj":"geners174537"},{"id":"23383292-9#27#35#geners174460","span":{"begin":1327,"end":1335},"obj":"geners174460"},{"id":"23383292-9#160#163#diseaseC1956346","span":{"begin":1460,"end":1463},"obj":"diseaseC1956346"},{"id":"23383292-9#81#84#diseaseC1956346","span":{"begin":1381,"end":1384},"obj":"diseaseC1956346"},{"id":"23383292-9#160#163#diseaseC1956346","span":{"begin":1460,"end":1463},"obj":"diseaseC1956346"}],"relations":[{"id":"107#115#geners174537160#163#diseaseC1956346","pred":"associated_with","subj":"23383292-9#107#115#geners174537","obj":"23383292-9#160#163#diseaseC1956346"},{"id":"107#115#geners17453781#84#diseaseC1956346","pred":"associated_with","subj":"23383292-9#107#115#geners174537","obj":"23383292-9#81#84#diseaseC1956346"},{"id":"107#115#geners174537160#163#diseaseC1956346","pred":"associated_with","subj":"23383292-9#107#115#geners174537","obj":"23383292-9#160#163#diseaseC1956346"},{"id":"27#35#geners174460160#163#diseaseC1956346","pred":"associated_with","subj":"23383292-9#27#35#geners174460","obj":"23383292-9#160#163#diseaseC1956346"},{"id":"27#35#geners17446081#84#diseaseC1956346","pred":"associated_with","subj":"23383292-9#27#35#geners174460","obj":"23383292-9#81#84#diseaseC1956346"},{"id":"27#35#geners174460160#163#diseaseC1956346","pred":"associated_with","subj":"23383292-9#27#35#geners174460","obj":"23383292-9#160#163#diseaseC1956346"}],"text":"FADS gene polymorphisms confer the risk of coronary artery disease in a Chinese Han population through the altered desaturase activities: based on high-resolution melting analysis.\nOBJECTIVE: We explored the desaturase activities and the correlation of fatty acid desaturases (FADS) gene single nucleotide polymorphisms (SNPs) with plasma fatty acid in coronary artery disease (CAD) patients in a Chinese Han population.\nMETHODS: Plasma fatty acids were measured by gas chromatography in CAD patients (n = 505) and a control group (n = 510). Five SNPs in the FADS gene were genotyped with high-resolution melting (HRM) methods.\nRESULTS: After adjustment, D6D activity, assessed as arachidonic acid (AA, C20:4n-6)/linoleic acid (LA, C18:2n-6), was higher in CAD patients (p\u003c0.001). D9D activity, which was estimated as the ratio of palmitoleic acid (C16:1)/palmitic acid (C16:0) or oleic acid (C18:1n-9) to stearic acid (C18:0), was also increased (p\u003c0.001). The genotype distributions of rs174537 G\u003eT and rs174460 C\u003eT were different between the two groups. The rs174537 T allele was associated with a lower risk of CAD [OR 0.743, 95% CI (0.624, 0.884), p = 0.001]. Carriers of the rs174460 C allele were associated with a higher risk of CAD [OR 1.357, 95% CI (1.106, 1.665), p = 0.003].\nCONCLUSIONS: We firstly report that the rs174460 C allele is associated with a higher risk of CAD, and confirm that the rs174537 T allele is associated with a lower risk of CAD. Our results indicate that FADS gene polymorphisms are likely to influence plasma fatty acid concentrations and desaturase activities."}

DisGeNET5_gene_disease