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Inflammaging

Id Subject Object Predicate Lexical cue
T1 0-149 Sentence denotes Admixture mapping in lupus identifies multiple functional variants within IFIH1 associated with apoptosis, inflammation, and autoantibody production.
T2 150-255 Sentence denotes Systemic lupus erythematosus (SLE) is an inflammatory autoimmune disease with a strong genetic component.
T3 256-363 Sentence denotes African-Americans (AA) are at increased risk of SLE, but the genetic basis of this risk is largely unknown.
T4 364-501 Sentence denotes To identify causal variants in SLE loci in AA, we performed admixture mapping followed by fine mapping in AA and European-Americans (EA).
T5 502-711 Sentence denotes Through genome-wide admixture mapping in AA, we identified a strong SLE susceptibility locus at 2q22-24 (LOD=6.28), and the admixture signal is associated with the European ancestry (ancestry risk ratio ~1.5).
T6 712-1139 Sentence denotes Large-scale genotypic analysis on 19,726 individuals of African and European ancestry revealed three independently associated variants in the IFIH1 gene: an intronic variant, rs13023380 [P(meta) = 5.20×10(-14); odds ratio, 95% confidence interval = 0.82 (0.78-0.87)], and two missense variants, rs1990760 (Ala946Thr) [P(meta) = 3.08×10(-7); 0.88 (0.84-0.93)] and rs10930046 (Arg460His) [P(dom) = 1.16×10(-8); 0.70 (0.62-0.79)].
T7 1140-1254 Sentence denotes Both missense variants produced dramatic phenotypic changes in apoptosis and inflammation-related gene expression.
T8 1255-1396 Sentence denotes We experimentally validated function of the intronic SNP by DNA electrophoresis, protein identification, and in vitro protein binding assays.
T9 1397-1613 Sentence denotes DNA carrying the intronic risk allele rs13023380 showed reduced binding efficiency to a cellular protein complex including nucleolin and lupus autoantigen Ku70/80, and showed reduced transcriptional activity in vivo.
T10 1614-1777 Sentence denotes Thus, in SLE patients, genetic susceptibility could create a biochemical imbalance that dysregulates nucleolin, Ku70/80, or other nucleic acid regulatory proteins.
T11 1778-1893 Sentence denotes This could promote antibody hypermutation and auto-antibody generation, further destabilizing the cellular network.
T12 1894-2114 Sentence denotes Together with molecular modeling, our results establish a distinct role for IFIH1 in apoptosis, inflammation, and autoantibody production, and explain the molecular basis of these three risk alleles for SLE pathogenesis.
T1 0-149 Sentence denotes Admixture mapping in lupus identifies multiple functional variants within IFIH1 associated with apoptosis, inflammation, and autoantibody production.
T2 150-255 Sentence denotes Systemic lupus erythematosus (SLE) is an inflammatory autoimmune disease with a strong genetic component.
T3 256-363 Sentence denotes African-Americans (AA) are at increased risk of SLE, but the genetic basis of this risk is largely unknown.
T4 364-501 Sentence denotes To identify causal variants in SLE loci in AA, we performed admixture mapping followed by fine mapping in AA and European-Americans (EA).
T5 502-711 Sentence denotes Through genome-wide admixture mapping in AA, we identified a strong SLE susceptibility locus at 2q22-24 (LOD=6.28), and the admixture signal is associated with the European ancestry (ancestry risk ratio ~1.5).
T6 712-1139 Sentence denotes Large-scale genotypic analysis on 19,726 individuals of African and European ancestry revealed three independently associated variants in the IFIH1 gene: an intronic variant, rs13023380 [P(meta) = 5.20×10(-14); odds ratio, 95% confidence interval = 0.82 (0.78-0.87)], and two missense variants, rs1990760 (Ala946Thr) [P(meta) = 3.08×10(-7); 0.88 (0.84-0.93)] and rs10930046 (Arg460His) [P(dom) = 1.16×10(-8); 0.70 (0.62-0.79)].
T7 1140-1254 Sentence denotes Both missense variants produced dramatic phenotypic changes in apoptosis and inflammation-related gene expression.
T8 1255-1396 Sentence denotes We experimentally validated function of the intronic SNP by DNA electrophoresis, protein identification, and in vitro protein binding assays.
T9 1397-1613 Sentence denotes DNA carrying the intronic risk allele rs13023380 showed reduced binding efficiency to a cellular protein complex including nucleolin and lupus autoantigen Ku70/80, and showed reduced transcriptional activity in vivo.
T10 1614-1777 Sentence denotes Thus, in SLE patients, genetic susceptibility could create a biochemical imbalance that dysregulates nucleolin, Ku70/80, or other nucleic acid regulatory proteins.
T11 1778-1893 Sentence denotes This could promote antibody hypermutation and auto-antibody generation, further destabilizing the cellular network.
T12 1894-2114 Sentence denotes Together with molecular modeling, our results establish a distinct role for IFIH1 in apoptosis, inflammation, and autoantibody production, and explain the molecular basis of these three risk alleles for SLE pathogenesis.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1970-1975 gene:64135 denotes IFIH1
T1 2097-2100 disease:C0024141 denotes SLE
R1 T0 T1 associated_with IFIH1,SLE

Allie

Id Subject Object Predicate Lexical cue
SS1_23441136_1_0 150-178 expanded denotes Systemic lupus erythematosus
SS2_23441136_1_0 180-183 abbr denotes SLE
SS1_23441136_2_0 256-273 expanded denotes African-Americans
SS2_23441136_2_0 275-277 abbr denotes AA
SS1_23441136_3_0 477-495 expanded denotes European-Americans
SS2_23441136_3_0 497-499 abbr denotes EA
AE1_23441136_1_0 SS1_23441136_1_0 SS2_23441136_1_0 abbreviatedTo Systemic lupus erythematosus,SLE
AE1_23441136_2_0 SS1_23441136_2_0 SS2_23441136_2_0 abbreviatedTo African-Americans,AA
AE1_23441136_3_0 SS1_23441136_3_0 SS2_23441136_3_0 abbreviatedTo European-Americans,EA

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 150-178 HP_0002725 denotes Systemic lupus erythematosus
T2 204-214 HP_0002960 denotes autoimmune
T3 204-222 HP_0002960 denotes autoimmune disease

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
23441136-8#38#48#geners13023380 1435-1445 geners13023380 denotes rs13023380
23441136-8#137#142#diseaseC0024131 1534-1539 diseaseC0024131 denotes lupus
23441136-8#137#142#diseaseC0024138 1534-1539 diseaseC0024138 denotes lupus
23441136-8#137#142#diseaseC0024141 1534-1539 diseaseC0024141 denotes lupus
23441136-8#137#142#diseaseC0409974 1534-1539 diseaseC0409974 denotes lupus
38#48#geners13023380137#142#diseaseC0024131 23441136-8#38#48#geners13023380 23441136-8#137#142#diseaseC0024131 associated_with rs13023380,lupus
38#48#geners13023380137#142#diseaseC0024138 23441136-8#38#48#geners13023380 23441136-8#137#142#diseaseC0024138 associated_with rs13023380,lupus
38#48#geners13023380137#142#diseaseC0024141 23441136-8#38#48#geners13023380 23441136-8#137#142#diseaseC0024141 associated_with rs13023380,lupus
38#48#geners13023380137#142#diseaseC0409974 23441136-8#38#48#geners13023380 23441136-8#137#142#diseaseC0409974 associated_with rs13023380,lupus

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
23441136-0#74#79#gene64135 74-79 gene64135 denotes IFIH1
23441136-0#21#26#diseaseC0024131 21-26 diseaseC0024131 denotes lupus
23441136-0#21#26#diseaseC0024138 21-26 diseaseC0024138 denotes lupus
23441136-0#21#26#diseaseC0024141 21-26 diseaseC0024141 denotes lupus
23441136-0#21#26#diseaseC0409974 21-26 diseaseC0409974 denotes lupus
23441136-8#123#132#gene4691 1520-1529 gene4691 denotes nucleolin
23441136-8#155#159#gene2547 1552-1556 gene2547 denotes Ku70
23441136-8#137#142#diseaseC0024131 1534-1539 diseaseC0024131 denotes lupus
23441136-8#137#142#diseaseC0024138 1534-1539 diseaseC0024138 denotes lupus
23441136-8#137#142#diseaseC0024141 1534-1539 diseaseC0024141 denotes lupus
23441136-8#137#142#diseaseC0409974 1534-1539 diseaseC0409974 denotes lupus
23441136-8#137#142#diseaseC0024131 1534-1539 diseaseC0024131 denotes lupus
23441136-8#137#142#diseaseC0024138 1534-1539 diseaseC0024138 denotes lupus
23441136-8#137#142#diseaseC0024141 1534-1539 diseaseC0024141 denotes lupus
23441136-8#137#142#diseaseC0409974 1534-1539 diseaseC0409974 denotes lupus
74#79#gene6413521#26#diseaseC0024131 23441136-0#74#79#gene64135 23441136-0#21#26#diseaseC0024131 associated_with IFIH1,lupus
74#79#gene6413521#26#diseaseC0024138 23441136-0#74#79#gene64135 23441136-0#21#26#diseaseC0024138 associated_with IFIH1,lupus
74#79#gene6413521#26#diseaseC0024141 23441136-0#74#79#gene64135 23441136-0#21#26#diseaseC0024141 associated_with IFIH1,lupus
74#79#gene6413521#26#diseaseC0409974 23441136-0#74#79#gene64135 23441136-0#21#26#diseaseC0409974 associated_with IFIH1,lupus
123#132#gene4691137#142#diseaseC0024131 23441136-8#123#132#gene4691 23441136-8#137#142#diseaseC0024131 associated_with nucleolin,lupus
123#132#gene4691137#142#diseaseC0024138 23441136-8#123#132#gene4691 23441136-8#137#142#diseaseC0024138 associated_with nucleolin,lupus
123#132#gene4691137#142#diseaseC0024141 23441136-8#123#132#gene4691 23441136-8#137#142#diseaseC0024141 associated_with nucleolin,lupus
123#132#gene4691137#142#diseaseC0409974 23441136-8#123#132#gene4691 23441136-8#137#142#diseaseC0409974 associated_with nucleolin,lupus
123#132#gene4691137#142#diseaseC0024131 23441136-8#123#132#gene4691 23441136-8#137#142#diseaseC0024131 associated_with nucleolin,lupus
123#132#gene4691137#142#diseaseC0024138 23441136-8#123#132#gene4691 23441136-8#137#142#diseaseC0024138 associated_with nucleolin,lupus
123#132#gene4691137#142#diseaseC0024141 23441136-8#123#132#gene4691 23441136-8#137#142#diseaseC0024141 associated_with nucleolin,lupus
123#132#gene4691137#142#diseaseC0409974 23441136-8#123#132#gene4691 23441136-8#137#142#diseaseC0409974 associated_with nucleolin,lupus
155#159#gene2547137#142#diseaseC0024131 23441136-8#155#159#gene2547 23441136-8#137#142#diseaseC0024131 associated_with Ku70,lupus
155#159#gene2547137#142#diseaseC0024138 23441136-8#155#159#gene2547 23441136-8#137#142#diseaseC0024138 associated_with Ku70,lupus
155#159#gene2547137#142#diseaseC0024141 23441136-8#155#159#gene2547 23441136-8#137#142#diseaseC0024141 associated_with Ku70,lupus
155#159#gene2547137#142#diseaseC0409974 23441136-8#155#159#gene2547 23441136-8#137#142#diseaseC0409974 associated_with Ku70,lupus
155#159#gene2547137#142#diseaseC0024131 23441136-8#155#159#gene2547 23441136-8#137#142#diseaseC0024131 associated_with Ku70,lupus
155#159#gene2547137#142#diseaseC0024138 23441136-8#155#159#gene2547 23441136-8#137#142#diseaseC0024138 associated_with Ku70,lupus
155#159#gene2547137#142#diseaseC0024141 23441136-8#155#159#gene2547 23441136-8#137#142#diseaseC0024141 associated_with Ku70,lupus
155#159#gene2547137#142#diseaseC0409974 23441136-8#155#159#gene2547 23441136-8#137#142#diseaseC0409974 associated_with Ku70,lupus