PubMed:23434931 JSON TXT

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DisGeNET

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":0,"end":6},"obj":"gene:6934"},{"id":"T1","span":{"begin":21,"end":55},"obj":"disease:C0154830"},{"id":"T2","span":{"begin":439,"end":445},"obj":"gene:6934"},{"id":"T3","span":{"begin":222,"end":225},"obj":"disease:C0154830"},{"id":"T4","span":{"begin":211,"end":217},"obj":"gene:6934"},{"id":"T5","span":{"begin":265,"end":269},"obj":"disease:C0011860"},{"id":"T6","span":{"begin":211,"end":217},"obj":"gene:6934"},{"id":"T7","span":{"begin":394,"end":398},"obj":"disease:C0011860"},{"id":"T8","span":{"begin":211,"end":217},"obj":"gene:6934"},{"id":"T9","span":{"begin":239,"end":263},"obj":"disease:C0011860"},{"id":"T10","span":{"begin":439,"end":445},"obj":"gene:6934"},{"id":"T11","span":{"begin":239,"end":263},"obj":"disease:C0011860"},{"id":"T12","span":{"begin":439,"end":445},"obj":"gene:6934"},{"id":"T13","span":{"begin":265,"end":269},"obj":"disease:C0011860"},{"id":"T14","span":{"begin":439,"end":445},"obj":"gene:6934"},{"id":"T15","span":{"begin":394,"end":398},"obj":"disease:C0011860"},{"id":"T16","span":{"begin":211,"end":217},"obj":"gene:6934"},{"id":"T17","span":{"begin":222,"end":225},"obj":"disease:C0154830"}],"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"},{"id":"R6","pred":"associated_with","subj":"T10","obj":"T11"},{"id":"R7","pred":"associated_with","subj":"T12","obj":"T13"},{"id":"R8","pred":"associated_with","subj":"T14","obj":"T15"},{"id":"R9","pred":"associated_with","subj":"T16","obj":"T17"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"TCF7L2 variation and proliferative diabetic retinopathy.\nProliferative diabetic retinopathy (PDR) is the most severe vision-threatening complication of diabetes. For investigation of genetic association between TCF7L2 and PDR in Caucasian type 2 diabetes mellitus (T2DM) and its functional consequences, 383 T2DM patients with PDR (T2DM-PDR) and 756 T2DM patients without diabetic retinopathy (T2DM-no DR) were genotyped with rs7903146 in TCF7L2. We found that risk allele (T) frequency of rs7903146 was significantly higher in T2DM-PDR patients (allelic P = 2.52E-04). In lymphoblastoid cells induced to undergo endoplasmic reticulum (ER) stress by treatment of tunicamycin, higher fold change of TCF7L2 and VEGFA mRNA levels were observed in rs7903146-TT cells than in rs7903146-CC cells (P = 0.02 for TCF7L2; P = 0.004 for VEGFA), suggesting that ER stress plays a role in PDR pathogenesis. Silencing TCF7L2 resulted in decreased mRNA levels of both TCF7L2 and VEGFA (P \u003c 0.001). Retinas of oxygen-induced retinopathy mice (a model for PDR) had higher TCF7L2 and VEGFA mRNA levels than those of controls (P = 2.9E-04 for TCF7L2; P = 1.9E-07 for VEGFA). Together, data from our study show that TCF7L2-rs7903146 is associated with PDR in Caucasian T2DM and suggest that TCF7L2 promotes pathological retinal neovascularization via ER stress-dependent upregulation of VEGFA."}

Allie

{"project":"Allie","denotations":[{"id":"SS1_23434931_1_0","span":{"begin":57,"end":91},"obj":"expanded"},{"id":"SS2_23434931_1_0","span":{"begin":93,"end":96},"obj":"abbr"},{"id":"SS1_23434931_2_0","span":{"begin":239,"end":263},"obj":"expanded"},{"id":"SS2_23434931_2_0","span":{"begin":265,"end":269},"obj":"abbr"},{"id":"SS1_23434931_2_1","span":{"begin":308,"end":330},"obj":"expanded"},{"id":"SS2_23434931_2_1","span":{"begin":332,"end":340},"obj":"abbr"},{"id":"SS1_23434931_2_2","span":{"begin":350,"end":392},"obj":"expanded"},{"id":"SS2_23434931_2_2","span":{"begin":394,"end":404},"obj":"abbr"},{"id":"SS1_23434931_4_0","span":{"begin":613,"end":634},"obj":"expanded"},{"id":"SS2_23434931_4_0","span":{"begin":636,"end":638},"obj":"abbr"}],"relations":[{"id":"AE1_23434931_1_0","pred":"abbreviatedTo","subj":"SS1_23434931_1_0","obj":"SS2_23434931_1_0"},{"id":"AE1_23434931_2_0","pred":"abbreviatedTo","subj":"SS1_23434931_2_0","obj":"SS2_23434931_2_0"},{"id":"AE1_23434931_2_1","pred":"abbreviatedTo","subj":"SS1_23434931_2_1","obj":"SS2_23434931_2_1"},{"id":"AE1_23434931_2_2","pred":"abbreviatedTo","subj":"SS1_23434931_2_2","obj":"SS2_23434931_2_2"},{"id":"AE1_23434931_4_0","pred":"abbreviatedTo","subj":"SS1_23434931_4_0","obj":"SS2_23434931_4_0"}],"text":"TCF7L2 variation and proliferative diabetic retinopathy.\nProliferative diabetic retinopathy (PDR) is the most severe vision-threatening complication of diabetes. For investigation of genetic association between TCF7L2 and PDR in Caucasian type 2 diabetes mellitus (T2DM) and its functional consequences, 383 T2DM patients with PDR (T2DM-PDR) and 756 T2DM patients without diabetic retinopathy (T2DM-no DR) were genotyped with rs7903146 in TCF7L2. We found that risk allele (T) frequency of rs7903146 was significantly higher in T2DM-PDR patients (allelic P = 2.52E-04). In lymphoblastoid cells induced to undergo endoplasmic reticulum (ER) stress by treatment of tunicamycin, higher fold change of TCF7L2 and VEGFA mRNA levels were observed in rs7903146-TT cells than in rs7903146-CC cells (P = 0.02 for TCF7L2; P = 0.004 for VEGFA), suggesting that ER stress plays a role in PDR pathogenesis. Silencing TCF7L2 resulted in decreased mRNA levels of both TCF7L2 and VEGFA (P \u003c 0.001). Retinas of oxygen-induced retinopathy mice (a model for PDR) had higher TCF7L2 and VEGFA mRNA levels than those of controls (P = 2.9E-04 for TCF7L2; P = 1.9E-07 for VEGFA). Together, data from our study show that TCF7L2-rs7903146 is associated with PDR in Caucasian T2DM and suggest that TCF7L2 promotes pathological retinal neovascularization via ER stress-dependent upregulation of VEGFA."}

PubmedHPO

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":80,"end":91},"obj":"HP_0000488"},{"id":"T2","span":{"begin":246,"end":263},"obj":"HP_0000819"},{"id":"T3","span":{"begin":381,"end":392},"obj":"HP_0000488"},{"id":"T4","span":{"begin":1009,"end":1020},"obj":"HP_0000488"}],"text":"TCF7L2 variation and proliferative diabetic retinopathy.\nProliferative diabetic retinopathy (PDR) is the most severe vision-threatening complication of diabetes. For investigation of genetic association between TCF7L2 and PDR in Caucasian type 2 diabetes mellitus (T2DM) and its functional consequences, 383 T2DM patients with PDR (T2DM-PDR) and 756 T2DM patients without diabetic retinopathy (T2DM-no DR) were genotyped with rs7903146 in TCF7L2. We found that risk allele (T) frequency of rs7903146 was significantly higher in T2DM-PDR patients (allelic P = 2.52E-04). In lymphoblastoid cells induced to undergo endoplasmic reticulum (ER) stress by treatment of tunicamycin, higher fold change of TCF7L2 and VEGFA mRNA levels were observed in rs7903146-TT cells than in rs7903146-CC cells (P = 0.02 for TCF7L2; P = 0.004 for VEGFA), suggesting that ER stress plays a role in PDR pathogenesis. Silencing TCF7L2 resulted in decreased mRNA levels of both TCF7L2 and VEGFA (P \u003c 0.001). Retinas of oxygen-induced retinopathy mice (a model for PDR) had higher TCF7L2 and VEGFA mRNA levels than those of controls (P = 2.9E-04 for TCF7L2; P = 1.9E-07 for VEGFA). Together, data from our study show that TCF7L2-rs7903146 is associated with PDR in Caucasian T2DM and suggest that TCF7L2 promotes pathological retinal neovascularization via ER stress-dependent upregulation of VEGFA."}

DisGeNET5_variant_disease

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"23434931-3#43#52#geners7903146","span":{"begin":490,"end":499},"obj":"geners7903146"},{"id":"23434931-3#81#89#diseaseC1845050","span":{"begin":528,"end":536},"obj":"diseaseC1845050"},{"id":"23434931-7#47#56#geners7903146","span":{"begin":1203,"end":1212},"obj":"geners7903146"},{"id":"23434931-7#76#79#diseaseC0154830","span":{"begin":1232,"end":1235},"obj":"diseaseC0154830"},{"id":"23434931-7#93#97#diseaseC0011860","span":{"begin":1249,"end":1253},"obj":"diseaseC0011860"}],"relations":[{"id":"43#52#geners790314681#89#diseaseC1845050","pred":"associated_with","subj":"23434931-3#43#52#geners7903146","obj":"23434931-3#81#89#diseaseC1845050"},{"id":"47#56#geners790314676#79#diseaseC0154830","pred":"associated_with","subj":"23434931-7#47#56#geners7903146","obj":"23434931-7#76#79#diseaseC0154830"},{"id":"47#56#geners790314693#97#diseaseC0011860","pred":"associated_with","subj":"23434931-7#47#56#geners7903146","obj":"23434931-7#93#97#diseaseC0011860"}],"text":"TCF7L2 variation and proliferative diabetic retinopathy.\nProliferative diabetic retinopathy (PDR) is the most severe vision-threatening complication of diabetes. For investigation of genetic association between TCF7L2 and PDR in Caucasian type 2 diabetes mellitus (T2DM) and its functional consequences, 383 T2DM patients with PDR (T2DM-PDR) and 756 T2DM patients without diabetic retinopathy (T2DM-no DR) were genotyped with rs7903146 in TCF7L2. We found that risk allele (T) frequency of rs7903146 was significantly higher in T2DM-PDR patients (allelic P = 2.52E-04). In lymphoblastoid cells induced to undergo endoplasmic reticulum (ER) stress by treatment of tunicamycin, higher fold change of TCF7L2 and VEGFA mRNA levels were observed in rs7903146-TT cells than in rs7903146-CC cells (P = 0.02 for TCF7L2; P = 0.004 for VEGFA), suggesting that ER stress plays a role in PDR pathogenesis. Silencing TCF7L2 resulted in decreased mRNA levels of both TCF7L2 and VEGFA (P \u003c 0.001). Retinas of oxygen-induced retinopathy mice (a model for PDR) had higher TCF7L2 and VEGFA mRNA levels than those of controls (P = 2.9E-04 for TCF7L2; P = 1.9E-07 for VEGFA). Together, data from our study show that TCF7L2-rs7903146 is associated with PDR in Caucasian T2DM and suggest that TCF7L2 promotes pathological retinal neovascularization via ER stress-dependent upregulation of VEGFA."}

DisGeNET5_gene_disease

CHEMDNER-training-test

{"project":"CHEMDNER-training-test","denotations":[{"id":"T1","span":{"begin":663,"end":674},"obj":"TRIVIAL"},{"id":"T2","span":{"begin":994,"end":1000},"obj":"SYSTEMATIC"}],"text":"TCF7L2 variation and proliferative diabetic retinopathy.\nProliferative diabetic retinopathy (PDR) is the most severe vision-threatening complication of diabetes. For investigation of genetic association between TCF7L2 and PDR in Caucasian type 2 diabetes mellitus (T2DM) and its functional consequences, 383 T2DM patients with PDR (T2DM-PDR) and 756 T2DM patients without diabetic retinopathy (T2DM-no DR) were genotyped with rs7903146 in TCF7L2. We found that risk allele (T) frequency of rs7903146 was significantly higher in T2DM-PDR patients (allelic P = 2.52E-04). In lymphoblastoid cells induced to undergo endoplasmic reticulum (ER) stress by treatment of tunicamycin, higher fold change of TCF7L2 and VEGFA mRNA levels were observed in rs7903146-TT cells than in rs7903146-CC cells (P = 0.02 for TCF7L2; P = 0.004 for VEGFA), suggesting that ER stress plays a role in PDR pathogenesis. Silencing TCF7L2 resulted in decreased mRNA levels of both TCF7L2 and VEGFA (P \u003c 0.001). Retinas of oxygen-induced retinopathy mice (a model for PDR) had higher TCF7L2 and VEGFA mRNA levels than those of controls (P = 2.9E-04 for TCF7L2; P = 1.9E-07 for VEGFA). Together, data from our study show that TCF7L2-rs7903146 is associated with PDR in Caucasian T2DM and suggest that TCF7L2 promotes pathological retinal neovascularization via ER stress-dependent upregulation of VEGFA."}