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- Figlioli, Gisella, et al.
(författare)
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Novel genetic variants in differentiated thyroid cancer and assessment of the cumulative risk.
- 2015
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 5
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Tidskriftsartikel (refereegranskat)abstract
- A genome-wide association study (GWAS) performed on a high-incidence Italian population followed by replications on low-incidence cohorts suggested a strong association of differentiated thyroid cancer (DTC) with single nucleotide polymorphisms (SNPs) at 9q22.33, 2q35, 20q11.22-q12 and 14q24.3. Moreover, six additional susceptibility loci were associated with the disease only among Italians. The present study had two aims, first to identify loci involved in DTC risk and then to assess the cumulative effect of the SNPs identified so far in the Italian population. The combined analysis of the previous GWAS and the present Italian study provided evidence of association with rs7935113 (GALNTL4, OR = 1.36, 95%CI 1.20-1.53, p-value = 7.41 × 10(-7)) and rs1203952 (FOXA2, OR = 1.29, 95%CI 1.16-1.44, p-value = 4.42 × 10(-6)). Experimental ENCODE and eQTL data suggested that both SNPs may influence the closest genes expression through a differential recruitment of transcription factors. The assessment of the cumulative risk of eleven SNPs showed that DTC risk increases with an increasing number of risk alleles (p-trend = 3.13 × 10(-47)). Nonetheless, only a small fraction (about 4% on the disease liability scale) of DTC is explained by these SNPs. These data are consistent with a polygenic model of DTC predisposition and highlight the importance of association studies in the discovery of the disease hereditability.
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| 2. |
- Oudin Åström, Daniel, et al.
(författare)
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The effect of heat waves on mortality in susceptible groups : a cohort study of a Mediterranean and a Northern Europe city
- 2015
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Ingår i: Environmental Health. - : BioMed Central (BMC). - 1476-069X. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: Climate change is projected to increase the number and intensity of extreme weather events, for example heat waves. Heat waves have adverse health effects, especially for the elderly, since chronic diseases are more frequent in that group than in the population overall. The aim of the study was to investigate mortality during heat waves in an adult population aged 50 years or over, as well as in susceptible subgroups of that population in Rome and Stockholm during the summer periods from 2000 to 2008.Methods: We collected daily number of deaths occurring between 15th May and 15th September each year for the population above 50 as well as the susceptible subgroups. Heat wave days were defined as two or more days exceeding the city specific 95th percentile of maximum apparent temperature (MAT). The relationship between heat waves and all-cause non-accidental mortality was investigated through time series modelling, adjusting for time trends.Results: The percent increase in daily mortality during heat waves as compared to normal summer days was, in the 50+ population, 22% (95% Confidence Interval (CI): 18-26%) in Rome and 8% (95% CI: 3-12%) in Stockholm. Subgroup specific increase in mortality in Rome ranged from 7% (95% CI:–17-39%) among survivors of myocardial infarction to 25% in the COPD (95% CI:9-43%) and diabetes (95% CI:14-37%) subgroups. In Stockholm the range was from 10% (95% CI: 2-19%) for congestive heart failure to 33% (95% CI: 10-61%) for the psychiatric subgroup.Conclusions: Mortality during heat waves increased in both Rome and Stockholm for the 50+ population as well as in the considered subgroups. It should be evaluated if protective measures should be directed towards susceptible groups, rather than the population as a whole.
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