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Träfflista för sökning "WFRF:(Kravic Jasmina) srt2:(2015)"

Sökning: WFRF:(Kravic Jasmina) > (2015)

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1.
  • Gaulton, Kyle J, et al. (författare)
  • Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.
  • 2015
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 47:12, s. 1415-1415
  • Tidskriftsartikel (refereegranskat)abstract
    • We performed fine mapping of 39 established type 2 diabetes (T2D) loci in 27,206 cases and 57,574 controls of European ancestry. We identified 49 distinct association signals at these loci, including five mapping in or near KCNQ1. 'Credible sets' of the variants most likely to drive each distinct signal mapped predominantly to noncoding sequence, implying that association with T2D is mediated through gene regulation. Credible set variants were enriched for overlap with FOXA2 chromatin immunoprecipitation binding sites in human islet and liver cells, including at MTNR1B, where fine mapping implicated rs10830963 as driving T2D association. We confirmed that the T2D risk allele for this SNP increases FOXA2-bound enhancer activity in islet- and liver-derived cells. We observed allele-specific differences in NEUROD1 binding in islet-derived cells, consistent with evidence that the T2D risk allele increases islet MTNR1B expression. Our study demonstrates how integration of genetic and genomic information can define molecular mechanisms through which variants underlying association signals exert their effects on disease.
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2.
  • Sambo, Francesco, et al. (författare)
  • A Bayesian Network analysis of the probabilistic relations between risk factors in the predisposition to type 2 diabetes
  • 2015
  • Ingår i: 2015 37th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC). - 1557-170X. - 9781424492718 ; 2015, s. 22-2119
  • Konferensbidrag (refereegranskat)abstract
    • In order to better understand the relations between different risk factors in the predisposition to type 2 diabetes, we present a Bayesian Network analysis of a large dataset, composed of three European population studies. Our results show, together with a key role of metabolic syndrome and of glucose after 2 hours of an Oral Glucose Tolerance Test, the importance of education, measured as the number of years of study, in the predisposition to type 2 diabetes.
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3.
  • Sambo, Francesco, et al. (författare)
  • A Bayesian Network for Probabilistic Reasoning and Imputation of Missing Risk Factors in Type 2 Diabetes
  • 2015
  • Ingår i: Lecture Notes in Computer Science. - Cham : Springer International Publishing. - 1611-3349 .- 0302-9743. ; 9105, s. 172-176
  • Konferensbidrag (refereegranskat)abstract
    • We propose a novel Bayesian network tool to model the probabilistic relations between a set of type 2 diabetes risk factors. The tool can be used for probabilistic reasoning and for imputation of missing values among risk factors. The Bayesian network is learnt from a joint training set of three European population studies. Tested on an independent patient set, the network is shown to be competitive with both a standard imputation tool and a widely used risk score for type 2 diabetes, providing in addition a richer description of the interdependencies between diabetes risk factors.
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