PubMed:21067489 JSONTXT

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    sentences

    {"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":21},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":22,"end":107},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":108,"end":116},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":117,"end":695},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":696,"end":812},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":813,"end":835},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":836,"end":1132},"obj":"Sentence"},{"id":"TextSentencer_T8","span":{"begin":1133,"end":1141},"obj":"Sentence"},{"id":"TextSentencer_T9","span":{"begin":1142,"end":1244},"obj":"Sentence"},{"id":"TextSentencer_T10","span":{"begin":1245,"end":1370},"obj":"Sentence"},{"id":"TextSentencer_T11","span":{"begin":1371,"end":1460},"obj":"Sentence"},{"id":"TextSentencer_T12","span":{"begin":1461,"end":1472},"obj":"Sentence"},{"id":"TextSentencer_T13","span":{"begin":1473,"end":1719},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":21},"obj":"Sentence"},{"id":"T2","span":{"begin":22,"end":107},"obj":"Sentence"},{"id":"T3","span":{"begin":108,"end":116},"obj":"Sentence"},{"id":"T4","span":{"begin":117,"end":695},"obj":"Sentence"},{"id":"T5","span":{"begin":696,"end":812},"obj":"Sentence"},{"id":"T6","span":{"begin":813,"end":835},"obj":"Sentence"},{"id":"T7","span":{"begin":836,"end":1132},"obj":"Sentence"},{"id":"T8","span":{"begin":1133,"end":1141},"obj":"Sentence"},{"id":"T9","span":{"begin":1142,"end":1244},"obj":"Sentence"},{"id":"T10","span":{"begin":1245,"end":1370},"obj":"Sentence"},{"id":"T11","span":{"begin":1371,"end":1460},"obj":"Sentence"},{"id":"T12","span":{"begin":1461,"end":1472},"obj":"Sentence"},{"id":"T13","span":{"begin":1473,"end":1719},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Diabetic retinopathy: Validation study of ALR2, RAGE, iNOS and TNFB gene variants in a south Indian cohort.\nPURPOSE: We previously reported the association of the Z-2 allele of the promoter dinucleotide repeat in the Aldose reductase (ALR2) gene, the (CCTTT)₁₅ allele in the promoter of inductible nitric oxide synthase (iNOS) gene, and the (GT)₁₃ promoter polymorphism in the tumor necrosis factor β (TNFB) gene with an increased risk for diabetic retinopathy (DR), and the Gly82Ser polymorphism in the receptor for advanced glycation end products (RAGE) gene and the (GT)₉ allele of the TNFB gene with low-risk for DR in a hospital-based self-reported type 2 diabetes mellitus (T2DM) patients. We have repeated the study in a population-based south Indian cohort to validate the same variations in these genes.\nMATERIALS AND METHODS: Type 2 diabetic patients with and without retinopathy (DR+ and DR- respectively) were recruited. (CA)(n) repeat, Gly82Ser, (CCTTT)(n) repeat and (GT)(n) repeat in ALR2, RAGE, iNOS and TNFB genes respectively were genotyped and their frequencies were analyzed using the relevant statistical tests.\nRESULTS: Different allelic associations were observed in the present study as compared to our previous reports. Z+2 allele of ALR2, 13-repeat genotype of iNOS, 15-repeat genotype of TNF-β, genes were associated with susceptibility to DR. Gly82Ser polymorphisms of the RAGE gene were not associated with DR in the present study.\nCONCLUSION: The present data show a difference in the association of variations in ALR2, iNOS and TNFB genes with DR, when compared to our previous reports; this could be attributed to differences between the study populations of the past and present report."}

    DisGeNET

    {"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":217,"end":233},"obj":"gene:231"},{"id":"T1","span":{"begin":440,"end":460},"obj":"disease:C0011884"},{"id":"T2","span":{"begin":217,"end":233},"obj":"gene:231"},{"id":"T3","span":{"begin":617,"end":619},"obj":"disease:C0011884"},{"id":"T4","span":{"begin":217,"end":233},"obj":"gene:231"},{"id":"T5","span":{"begin":654,"end":678},"obj":"disease:C0011860"},{"id":"T6","span":{"begin":235,"end":239},"obj":"gene:231"},{"id":"T7","span":{"begin":440,"end":460},"obj":"disease:C0011884"},{"id":"T8","span":{"begin":235,"end":239},"obj":"gene:231"},{"id":"T9","span":{"begin":462,"end":464},"obj":"disease:C0011884"},{"id":"T10","span":{"begin":235,"end":239},"obj":"gene:231"},{"id":"T11","span":{"begin":617,"end":619},"obj":"disease:C0011884"},{"id":"T12","span":{"begin":235,"end":239},"obj":"gene:231"},{"id":"T13","span":{"begin":654,"end":678},"obj":"disease:C0011860"},{"id":"T14","span":{"begin":235,"end":239},"obj":"gene:231"},{"id":"T15","span":{"begin":680,"end":684},"obj":"disease:C0011860"},{"id":"T16","span":{"begin":377,"end":400},"obj":"gene:4049"},{"id":"T17","span":{"begin":440,"end":460},"obj":"disease:C0011884"},{"id":"T18","span":{"begin":377,"end":400},"obj":"gene:4049"},{"id":"T19","span":{"begin":462,"end":464},"obj":"disease:C0011884"},{"id":"T20","span":{"begin":377,"end":400},"obj":"gene:4049"},{"id":"T21","span":{"begin":617,"end":619},"obj":"disease:C0011884"},{"id":"T22","span":{"begin":377,"end":400},"obj":"gene:4049"},{"id":"T23","span":{"begin":654,"end":678},"obj":"disease:C0011860"},{"id":"T24","span":{"begin":377,"end":400},"obj":"gene:4049"},{"id":"T25","span":{"begin":680,"end":684},"obj":"disease:C0011860"},{"id":"T26","span":{"begin":402,"end":406},"obj":"gene:4049"},{"id":"T27","span":{"begin":440,"end":460},"obj":"disease:C0011884"},{"id":"T28","span":{"begin":402,"end":406},"obj":"gene:4049"},{"id":"T29","span":{"begin":462,"end":464},"obj":"disease:C0011884"},{"id":"T30","span":{"begin":402,"end":406},"obj":"gene:4049"},{"id":"T31","span":{"begin":617,"end":619},"obj":"disease:C0011884"},{"id":"T32","span":{"begin":402,"end":406},"obj":"gene:4049"},{"id":"T33","span":{"begin":654,"end":678},"obj":"disease:C0011860"},{"id":"T34","span":{"begin":402,"end":406},"obj":"gene:4049"},{"id":"T35","span":{"begin":680,"end":684},"obj":"disease:C0011860"},{"id":"T36","span":{"begin":589,"end":593},"obj":"gene:4049"},{"id":"T37","span":{"begin":440,"end":460},"obj":"disease:C0011884"},{"id":"T38","span":{"begin":589,"end":593},"obj":"gene:4049"},{"id":"T39","span":{"begin":462,"end":464},"obj":"disease:C0011884"},{"id":"T40","span":{"begin":589,"end":593},"obj":"gene:4049"},{"id":"T41","span":{"begin":617,"end":619},"obj":"disease:C0011884"},{"id":"T42","span":{"begin":589,"end":593},"obj":"gene:4049"},{"id":"T43","span":{"begin":654,"end":678},"obj":"disease:C0011860"},{"id":"T44","span":{"begin":589,"end":593},"obj":"gene:4049"},{"id":"T45","span":{"begin":680,"end":684},"obj":"disease:C0011860"}],"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"},{"id":"R10","pred":"associated_with","subj":"T18","obj":"T19"},{"id":"R11","pred":"associated_with","subj":"T20","obj":"T21"},{"id":"R12","pred":"associated_with","subj":"T22","obj":"T23"},{"id":"R13","pred":"associated_with","subj":"T24","obj":"T25"},{"id":"R14","pred":"associated_with","subj":"T26","obj":"T27"},{"id":"R15","pred":"associated_with","subj":"T28","obj":"T29"},{"id":"R16","pred":"associated_with","subj":"T30","obj":"T31"},{"id":"R17","pred":"associated_with","subj":"T32","obj":"T33"},{"id":"R18","pred":"associated_with","subj":"T34","obj":"T35"},{"id":"R19","pred":"associated_with","subj":"T36","obj":"T37"},{"id":"R20","pred":"associated_with","subj":"T38","obj":"T39"},{"id":"R21","pred":"associated_with","subj":"T40","obj":"T41"},{"id":"R22","pred":"associated_with","subj":"T42","obj":"T43"},{"id":"R23","pred":"associated_with","subj":"T44","obj":"T45"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Diabetic retinopathy: Validation study of ALR2, RAGE, iNOS and TNFB gene variants in a south Indian cohort.\nPURPOSE: We previously reported the association of the Z-2 allele of the promoter dinucleotide repeat in the Aldose reductase (ALR2) gene, the (CCTTT)₁₅ allele in the promoter of inductible nitric oxide synthase (iNOS) gene, and the (GT)₁₃ promoter polymorphism in the tumor necrosis factor β (TNFB) gene with an increased risk for diabetic retinopathy (DR), and the Gly82Ser polymorphism in the receptor for advanced glycation end products (RAGE) gene and the (GT)₉ allele of the TNFB gene with low-risk for DR in a hospital-based self-reported type 2 diabetes mellitus (T2DM) patients. We have repeated the study in a population-based south Indian cohort to validate the same variations in these genes.\nMATERIALS AND METHODS: Type 2 diabetic patients with and without retinopathy (DR+ and DR- respectively) were recruited. (CA)(n) repeat, Gly82Ser, (CCTTT)(n) repeat and (GT)(n) repeat in ALR2, RAGE, iNOS and TNFB genes respectively were genotyped and their frequencies were analyzed using the relevant statistical tests.\nRESULTS: Different allelic associations were observed in the present study as compared to our previous reports. Z+2 allele of ALR2, 13-repeat genotype of iNOS, 15-repeat genotype of TNF-β, genes were associated with susceptibility to DR. Gly82Ser polymorphisms of the RAGE gene were not associated with DR in the present study.\nCONCLUSION: The present data show a difference in the association of variations in ALR2, iNOS and TNFB genes with DR, when compared to our previous reports; this could be attributed to differences between the study populations of the past and present report."}

    PubmedHPO

    {"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":377,"end":382},"obj":"HP_0002664"},{"id":"T2","span":{"begin":449,"end":460},"obj":"HP_0000488"},{"id":"T3","span":{"begin":661,"end":678},"obj":"HP_0000819"}],"text":"Diabetic retinopathy: Validation study of ALR2, RAGE, iNOS and TNFB gene variants in a south Indian cohort.\nPURPOSE: We previously reported the association of the Z-2 allele of the promoter dinucleotide repeat in the Aldose reductase (ALR2) gene, the (CCTTT)₁₅ allele in the promoter of inductible nitric oxide synthase (iNOS) gene, and the (GT)₁₃ promoter polymorphism in the tumor necrosis factor β (TNFB) gene with an increased risk for diabetic retinopathy (DR), and the Gly82Ser polymorphism in the receptor for advanced glycation end products (RAGE) gene and the (GT)₉ allele of the TNFB gene with low-risk for DR in a hospital-based self-reported type 2 diabetes mellitus (T2DM) patients. We have repeated the study in a population-based south Indian cohort to validate the same variations in these genes.\nMATERIALS AND METHODS: Type 2 diabetic patients with and without retinopathy (DR+ and DR- respectively) were recruited. (CA)(n) repeat, Gly82Ser, (CCTTT)(n) repeat and (GT)(n) repeat in ALR2, RAGE, iNOS and TNFB genes respectively were genotyped and their frequencies were analyzed using the relevant statistical tests.\nRESULTS: Different allelic associations were observed in the present study as compared to our previous reports. Z+2 allele of ALR2, 13-repeat genotype of iNOS, 15-repeat genotype of TNF-β, genes were associated with susceptibility to DR. Gly82Ser polymorphisms of the RAGE gene were not associated with DR in the present study.\nCONCLUSION: The present data show a difference in the association of variations in ALR2, iNOS and TNFB genes with DR, when compared to our previous reports; this could be attributed to differences between the study populations of the past and present report."}

    Allie

    {"project":"Allie","denotations":[{"id":"SS1_21067489_2_0","span":{"begin":287,"end":319},"obj":"expanded"},{"id":"SS2_21067489_2_0","span":{"begin":321,"end":325},"obj":"abbr"},{"id":"SS1_21067489_2_1","span":{"begin":327,"end":340},"obj":"expanded"},{"id":"SS2_21067489_2_1","span":{"begin":342,"end":344},"obj":"abbr"},{"id":"SS1_21067489_2_2","span":{"begin":377,"end":400},"obj":"expanded"},{"id":"SS2_21067489_2_2","span":{"begin":402,"end":406},"obj":"abbr"},{"id":"SS1_21067489_2_3","span":{"begin":440,"end":460},"obj":"expanded"},{"id":"SS2_21067489_2_3","span":{"begin":462,"end":464},"obj":"abbr"},{"id":"SS1_21067489_2_4","span":{"begin":504,"end":548},"obj":"expanded"},{"id":"SS2_21067489_2_4","span":{"begin":550,"end":554},"obj":"abbr"},{"id":"SS1_21067489_2_5","span":{"begin":556,"end":568},"obj":"expanded"},{"id":"SS2_21067489_2_5","span":{"begin":570,"end":572},"obj":"abbr"},{"id":"SS1_21067489_2_6","span":{"begin":654,"end":678},"obj":"expanded"},{"id":"SS2_21067489_2_6","span":{"begin":680,"end":684},"obj":"abbr"}],"relations":[{"id":"AE1_21067489_2_0","pred":"abbreviatedTo","subj":"SS1_21067489_2_0","obj":"SS2_21067489_2_0"},{"id":"AE1_21067489_2_1","pred":"abbreviatedTo","subj":"SS1_21067489_2_1","obj":"SS2_21067489_2_1"},{"id":"AE1_21067489_2_2","pred":"abbreviatedTo","subj":"SS1_21067489_2_2","obj":"SS2_21067489_2_2"},{"id":"AE1_21067489_2_3","pred":"abbreviatedTo","subj":"SS1_21067489_2_3","obj":"SS2_21067489_2_3"},{"id":"AE1_21067489_2_4","pred":"abbreviatedTo","subj":"SS1_21067489_2_4","obj":"SS2_21067489_2_4"},{"id":"AE1_21067489_2_5","pred":"abbreviatedTo","subj":"SS1_21067489_2_5","obj":"SS2_21067489_2_5"},{"id":"AE1_21067489_2_6","pred":"abbreviatedTo","subj":"SS1_21067489_2_6","obj":"SS2_21067489_2_6"}],"text":"Diabetic retinopathy: Validation study of ALR2, RAGE, iNOS and TNFB gene variants in a south Indian cohort.\nPURPOSE: We previously reported the association of the Z-2 allele of the promoter dinucleotide repeat in the Aldose reductase (ALR2) gene, the (CCTTT)₁₅ allele in the promoter of inductible nitric oxide synthase (iNOS) gene, and the (GT)₁₃ promoter polymorphism in the tumor necrosis factor β (TNFB) gene with an increased risk for diabetic retinopathy (DR), and the Gly82Ser polymorphism in the receptor for advanced glycation end products (RAGE) gene and the (GT)₉ allele of the TNFB gene with low-risk for DR in a hospital-based self-reported type 2 diabetes mellitus (T2DM) patients. We have repeated the study in a population-based south Indian cohort to validate the same variations in these genes.\nMATERIALS AND METHODS: Type 2 diabetic patients with and without retinopathy (DR+ and DR- respectively) were recruited. (CA)(n) repeat, Gly82Ser, (CCTTT)(n) repeat and (GT)(n) repeat in ALR2, RAGE, iNOS and TNFB genes respectively were genotyped and their frequencies were analyzed using the relevant statistical tests.\nRESULTS: Different allelic associations were observed in the present study as compared to our previous reports. Z+2 allele of ALR2, 13-repeat genotype of iNOS, 15-repeat genotype of TNF-β, genes were associated with susceptibility to DR. Gly82Ser polymorphisms of the RAGE gene were not associated with DR in the present study.\nCONCLUSION: The present data show a difference in the association of variations in ALR2, iNOS and TNFB genes with DR, when compared to our previous reports; this could be attributed to differences between the study populations of the past and present report."}

    DisGeNET5_gene_disease

    {"project":"DisGeNET5_gene_disease","denotations":[{"id":"21067489-1#433#437#gene177","span":{"begin":550,"end":554},"obj":"gene177"},{"id":"21067489-1#204#208#gene4843","span":{"begin":321,"end":325},"obj":"gene4843"},{"id":"21067489-1#387#431#gene177","span":{"begin":504,"end":548},"obj":"gene177"},{"id":"21067489-1#537#561#diseaseC0011860","span":{"begin":654,"end":678},"obj":"diseaseC0011860"},{"id":"21067489-1#563#567#diseaseC0011860","span":{"begin":680,"end":684},"obj":"diseaseC0011860"},{"id":"21067489-1#537#561#diseaseC0011860","span":{"begin":654,"end":678},"obj":"diseaseC0011860"},{"id":"21067489-1#563#567#diseaseC0011860","span":{"begin":680,"end":684},"obj":"diseaseC0011860"},{"id":"21067489-1#537#561#diseaseC0011860","span":{"begin":654,"end":678},"obj":"diseaseC0011860"},{"id":"21067489-1#563#567#diseaseC0011860","span":{"begin":680,"end":684},"obj":"diseaseC0011860"},{"id":"21067489-6#14#18#gene231","span":{"begin":1259,"end":1263},"obj":"gene231"},{"id":"21067489-6#156#160#gene177","span":{"begin":1401,"end":1405},"obj":"gene177"},{"id":"21067489-6#122#124#diseaseC0011884","span":{"begin":1367,"end":1369},"obj":"diseaseC0011884"},{"id":"21067489-6#191#193#diseaseC0011884","span":{"begin":1436,"end":1438},"obj":"diseaseC0011884"},{"id":"21067489-6#122#124#diseaseC0011884","span":{"begin":1367,"end":1369},"obj":"diseaseC0011884"},{"id":"21067489-6#191#193#diseaseC0011884","span":{"begin":1436,"end":1438},"obj":"diseaseC0011884"}],"relations":[{"id":"204#208#gene4843537#561#diseaseC0011860","pred":"associated_with","subj":"21067489-1#204#208#gene4843","obj":"21067489-1#537#561#diseaseC0011860"},{"id":"204#208#gene4843563#567#diseaseC0011860","pred":"associated_with","subj":"21067489-1#204#208#gene4843","obj":"21067489-1#563#567#diseaseC0011860"},{"id":"204#208#gene4843537#561#diseaseC0011860","pred":"associated_with","subj":"21067489-1#204#208#gene4843","obj":"21067489-1#537#561#diseaseC0011860"},{"id":"204#208#gene4843563#567#diseaseC0011860","pred":"associated_with","subj":"21067489-1#204#208#gene4843","obj":"21067489-1#563#567#diseaseC0011860"},{"id":"204#208#gene4843537#561#diseaseC0011860","pred":"associated_with","subj":"21067489-1#204#208#gene4843","obj":"21067489-1#537#561#diseaseC0011860"},{"id":"204#208#gene4843563#567#diseaseC0011860","pred":"associated_with","subj":"21067489-1#204#208#gene4843","obj":"21067489-1#563#567#diseaseC0011860"},{"id":"387#431#gene177537#561#diseaseC0011860","pred":"associated_with","subj":"21067489-1#387#431#gene177","obj":"21067489-1#537#561#diseaseC0011860"},{"id":"387#431#gene177563#567#diseaseC0011860","pred":"associated_with","subj":"21067489-1#387#431#gene177","obj":"21067489-1#563#567#diseaseC0011860"},{"id":"387#431#gene177537#561#diseaseC0011860","pred":"associated_with","subj":"21067489-1#387#431#gene177","obj":"21067489-1#537#561#diseaseC0011860"},{"id":"387#431#gene177563#567#diseaseC0011860","pred":"associated_with","subj":"21067489-1#387#431#gene177","obj":"21067489-1#563#567#diseaseC0011860"},{"id":"387#431#gene177537#561#diseaseC0011860","pred":"associated_with","subj":"21067489-1#387#431#gene177","obj":"21067489-1#537#561#diseaseC0011860"},{"id":"387#431#gene177563#567#diseaseC0011860","pred":"associated_with","subj":"21067489-1#387#431#gene177","obj":"21067489-1#563#567#diseaseC0011860"},{"id":"433#437#gene177537#561#diseaseC0011860","pred":"associated_with","subj":"21067489-1#433#437#gene177","obj":"21067489-1#537#561#diseaseC0011860"},{"id":"433#437#gene177563#567#diseaseC0011860","pred":"associated_with","subj":"21067489-1#433#437#gene177","obj":"21067489-1#563#567#diseaseC0011860"},{"id":"433#437#gene177537#561#diseaseC0011860","pred":"associated_with","subj":"21067489-1#433#437#gene177","obj":"21067489-1#537#561#diseaseC0011860"},{"id":"433#437#gene177563#567#diseaseC0011860","pred":"associated_with","subj":"21067489-1#433#437#gene177","obj":"21067489-1#563#567#diseaseC0011860"},{"id":"433#437#gene177537#561#diseaseC0011860","pred":"associated_with","subj":"21067489-1#433#437#gene177","obj":"21067489-1#537#561#diseaseC0011860"},{"id":"433#437#gene177563#567#diseaseC0011860","pred":"associated_with","subj":"21067489-1#433#437#gene177","obj":"21067489-1#563#567#diseaseC0011860"},{"id":"14#18#gene231122#124#diseaseC0011884","pred":"associated_with","subj":"21067489-6#14#18#gene231","obj":"21067489-6#122#124#diseaseC0011884"},{"id":"14#18#gene231191#193#diseaseC0011884","pred":"associated_with","subj":"21067489-6#14#18#gene231","obj":"21067489-6#191#193#diseaseC0011884"},{"id":"14#18#gene231122#124#diseaseC0011884","pred":"associated_with","subj":"21067489-6#14#18#gene231","obj":"21067489-6#122#124#diseaseC0011884"},{"id":"14#18#gene231191#193#diseaseC0011884","pred":"associated_with","subj":"21067489-6#14#18#gene231","obj":"21067489-6#191#193#diseaseC0011884"},{"id":"156#160#gene177122#124#diseaseC0011884","pred":"associated_with","subj":"21067489-6#156#160#gene177","obj":"21067489-6#122#124#diseaseC0011884"},{"id":"156#160#gene177191#193#diseaseC0011884","pred":"associated_with","subj":"21067489-6#156#160#gene177","obj":"21067489-6#191#193#diseaseC0011884"},{"id":"156#160#gene177122#124#diseaseC0011884","pred":"associated_with","subj":"21067489-6#156#160#gene177","obj":"21067489-6#122#124#diseaseC0011884"},{"id":"156#160#gene177191#193#diseaseC0011884","pred":"associated_with","subj":"21067489-6#156#160#gene177","obj":"21067489-6#191#193#diseaseC0011884"}],"text":"Diabetic retinopathy: Validation study of ALR2, RAGE, iNOS and TNFB gene variants in a south Indian cohort.\nPURPOSE: We previously reported the association of the Z-2 allele of the promoter dinucleotide repeat in the Aldose reductase (ALR2) gene, the (CCTTT)₁₅ allele in the promoter of inductible nitric oxide synthase (iNOS) gene, and the (GT)₁₃ promoter polymorphism in the tumor necrosis factor β (TNFB) gene with an increased risk for diabetic retinopathy (DR), and the Gly82Ser polymorphism in the receptor for advanced glycation end products (RAGE) gene and the (GT)₉ allele of the TNFB gene with low-risk for DR in a hospital-based self-reported type 2 diabetes mellitus (T2DM) patients. We have repeated the study in a population-based south Indian cohort to validate the same variations in these genes.\nMATERIALS AND METHODS: Type 2 diabetic patients with and without retinopathy (DR+ and DR- respectively) were recruited. (CA)(n) repeat, Gly82Ser, (CCTTT)(n) repeat and (GT)(n) repeat in ALR2, RAGE, iNOS and TNFB genes respectively were genotyped and their frequencies were analyzed using the relevant statistical tests.\nRESULTS: Different allelic associations were observed in the present study as compared to our previous reports. Z+2 allele of ALR2, 13-repeat genotype of iNOS, 15-repeat genotype of TNF-β, genes were associated with susceptibility to DR. Gly82Ser polymorphisms of the RAGE gene were not associated with DR in the present study.\nCONCLUSION: The present data show a difference in the association of variations in ALR2, iNOS and TNFB genes with DR, when compared to our previous reports; this could be attributed to differences between the study populations of the past and present report."}

    DisGeNet-2017-sample

    {"project":"DisGeNet-2017-sample","denotations":[{"id":"T153","span":{"begin":321,"end":325},"obj":"gene:4843"},{"id":"T154","span":{"begin":654,"end":678},"obj":"disease:C0011860"},{"id":"T155","span":{"begin":680,"end":684},"obj":"disease:C0011860"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T153","obj":"T154"},{"id":"R2","pred":"associated_with","subj":"T153","obj":"T155"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Diabetic retinopathy: Validation study of ALR2, RAGE, iNOS and TNFB gene variants in a south Indian cohort.\nPURPOSE: We previously reported the association of the Z-2 allele of the promoter dinucleotide repeat in the Aldose reductase (ALR2) gene, the (CCTTT)₁₅ allele in the promoter of inductible nitric oxide synthase (iNOS) gene, and the (GT)₁₃ promoter polymorphism in the tumor necrosis factor β (TNFB) gene with an increased risk for diabetic retinopathy (DR), and the Gly82Ser polymorphism in the receptor for advanced glycation end products (RAGE) gene and the (GT)₉ allele of the TNFB gene with low-risk for DR in a hospital-based self-reported type 2 diabetes mellitus (T2DM) patients. We have repeated the study in a population-based south Indian cohort to validate the same variations in these genes.\nMATERIALS AND METHODS: Type 2 diabetic patients with and without retinopathy (DR+ and DR- respectively) were recruited. (CA)(n) repeat, Gly82Ser, (CCTTT)(n) repeat and (GT)(n) repeat in ALR2, RAGE, iNOS and TNFB genes respectively were genotyped and their frequencies were analyzed using the relevant statistical tests.\nRESULTS: Different allelic associations were observed in the present study as compared to our previous reports. Z+2 allele of ALR2, 13-repeat genotype of iNOS, 15-repeat genotype of TNF-β, genes were associated with susceptibility to DR. Gly82Ser polymorphisms of the RAGE gene were not associated with DR in the present study.\nCONCLUSION: The present data show a difference in the association of variations in ALR2, iNOS and TNFB genes with DR, when compared to our previous reports; this could be attributed to differences between the study populations of the past and present report."}