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authorShelbySolomonDarnell2024-10-17 12:24:26 +0300
committerShelbySolomonDarnell2024-10-17 12:24:26 +0300
commit00cba4b9a1e88891f1f96a1199320092c1962343 (patch)
tree270fd06daa18b2fc5687ee72d912cad771354bb0 /gnqa/paper2_eval/data/dataset/human/intermediate_files/human_de_diabetes_2
parente0b2b0e55049b89805f73f291df1e28fa05487fe (diff)
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+{
+ "titles": [
+ "2012 - Recent Developments in the Genetic and Genomic Basis of Type 2 Diabetes.pdf",
+ "2017 - Type 1 diabetes mellitus.pdf",
+ "2010 - Genetics of Type 1 Diabetes What\u2019s Next.pdf",
+ "2018 - Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.pdf",
+ "2011 - Type 2 diabetes and obesity genomics and the clinic.pdf",
+ "2010 - Genome-wide analysis of transcriptional regulation in the murine liver.pdf",
+ "2010 - Genome-wide analysis of transcriptional regulation in the murine liver.pdf",
+ "2015 - Transcript Expression Data from Human.pdf",
+ "2004 - Interaction and Association Analysis of a Type 1 Diabetes Susceptibility Locus.pdf",
+ "2019 - IRS1\u2010 rs10498210 GA and CCR5\u201059029 AG polymorphisms in patients with type 2 diabetes in Kurdistan.pdf"
+ ],
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+ ],
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+ ],
+ "contexts": [
+ "associated with increased fasting plasma glucose levels and type2 diabetes risk. Nat Genet. 2009;41(1):89 94. 23. Rees M, Wincovitch S, Schultz J, Waterstradt R, Beer N, Baltrusch S, et al. Cellular characterisation of the GCKR P446L variant associated with type 2 diabe tes risk. Diabetologia. 2012;55 (1):114 22. 24. Nejentsev S, Walker N, Riches D, Egholm M, Todd J, et al. Rare variants of IFIH1 , a gene implicated in antiviral responses, protect against type 1 diabetes. Science. 2009;324(5925):387 9.",
+ "HLAlinked genes in juvenile diabetes mellitus. Br.Med. J. 3, 133135 (1975). 52. Erlich,H.A. etal. Next generation sequencing reveals the association of DRB3*02:02 with type 1 diabetes. Diabetes 62, 26182622 (2013). 53. CaillatZucman,S. etal. Agedependent HLA genetic heterogeneity of type1 insulindependent diabetes mellitus. J.Clin. Invest. 90, 22422250 (1992). 54. Cucca,F. etal. The distribution of DR4 haplotypes inSardinia suggests a primary association of typeI",
+ "holdt R, Akolkar B, Erlich HA, Hilner JE, Julier C, Morahan G, Nerup J,Nierras CR, Chen WM, Rich SS, Type 1 Diabetes Genetics Consortium. Ahuman type 1 diabetes susceptibility locus maps to chromosome 21q22.3.Diabetes 2008;57:2858 2861 58. Nejentsev S, Walker N, Riches D, Egholm M, Todd JA. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1diabetes. Science 2009;324:387389 59. Altshuler D, Daly M. Guilt beyond a reasonable doubt. Nat Genet 2007;39: 813 815",
+ "because of their presumed roles in immune signalling, considered to be a major feature of T1D-susceptibility. These include ERBB3 (receptor tyrosine-protein kinase erbB-3 precursor) at 12q13 and SH2B3/LNK (SH2B adaptor protein 3), TRAFD1 (TRAF-type zinc finger domain containing 1) and PTPN11 (protein tyrosine phos- phatase, non-receptor type 11) at 12q24. For these signal regions in",
+ "Nejentsev S, Walker N, Riches D, Egholm M, Todd JA (2009) Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 324:387389 Nicolson TJ, Bellomo EA, Wijesekara N, Loder MK, Baldwin JM, Gyulkhandanyan AV, Koshkin V, Tarasov AI, Carzaniga R, Kronenberger K, Taneja TK, da Silva Xavier G, Libert S,",
+ "7 (Wellcome Trust Case Control Consortium 2007) . Separate work that examined liver gene expression in a smaller cohort of human samples with and without Type I diabetes found that ERBB3 did not have a cis -eQTL but that a flanking gene, R PS26, did. Since the disease phenotype and RPS26 both had QTLs in the same location, this suggested the RPS26 was a stronger candidate than ERBB3 . The authors then used mouse liver and adipose expression",
+ "models. A genome wide association study in a large human population proposed the receptor typrosine kinase ERBB3 as the best candidate gene near a QTL for Type I diabetes",
+ "61. Nejentsev S, Walker N, Riches D, Egholm M, Todd JA (2009) Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 324: 387 389. doi: 10.1126/science. 1167728 PMID: 19264985 62. Nica AC, Ongen H, Irminger JC, Bosco D, Berney T, et al. (2013) Cell-type, allelic, and genetic signa- tures in the human pancreatic beta cell transcriptome. Genome Res 23: 1554 1562. doi: 10.1101/gr. 150706.112 PMID: 23716500",
+ "gene is associated with insulin-dependent diabetes mellitus. Diabetes 33:176 183, 1984 3. Nistico L, Buzzetti R, Pritchard L, Van der Auwera B, Giovannini C, Bosi E, Larrad M, Rios M, Chow C, Cockram C, Jacobs K, Mijovic C, Bain S,Barnett A, Vandewalle C, Schuit F, Gorus F, Tosi R, Pozzilli P, Todd J: TheCTLA-4 gene region of chromosome 2q33 is linked to, and associated with,type 1 diabetes: Belgian Diabetes Registry. Hum Mol Genet 5:1075 1080, 1996",
+ "One of these genes associated with type 2 diabetes is the insulin receptor substrate 1 (IRS1, OMIM association num-ber, 147545) (Alharbi, Khan, Abotalib, & AlHakeem, 2014; Alharbi, Khan, Munshi et al., 2014; Brender et al., 2013; Brunetti, Chiefari, & Foti, 2014) and another is the CC motif chemokine receptor5(CCR5, OMIM association num-ber, 601373) (Balistreri et al., 2007; Mokubo et al., 2006; Muntinghe et al., 2009). Insulin initiates a wide range of growth and metabolic ef-"
+ ],
+ "answer": "Yes, the genes SH2B3, IFIH1, and ERBB3 are related to diabetes: 1. **IFIH1**: This gene is implicated in antiviral responses and has been found to protect against type 1 diabetes [1], [3], [5], [8]. 2. **ERBB3**: This gene is considered to have a role in immune signaling, which is a major feature of type 1 diabetes susceptibility [4]. Additionally, it has been proposed as a candidate gene near a QTL for type 1 diabetes [7]. 3. **SH2B3**: This gene is also considered to have a role in immune signaling related to type 1 diabetes susceptibility [4]. Thus, all three genes, SH2B3, IFIH1, and ERBB3, are related to diabetes.",
+ "question": "Is any of the genes SH2B3, IFIH1 or ERBB3 related to diabetes?"
+} \ No newline at end of file