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- Stacey, Simon N, et al.
(författare)
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A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.
- 2011
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 43:11, s. 1098-103
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Tidskriftsartikel (refereegranskat)abstract
- To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10(-6)), glioma (OR = 2.35, P = 1.0 × 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 × 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27).
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| 2. |
- Pfeffer, M. A., et al.
(författare)
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SO 2 emission rates and incorporation into the air pollution dispersion forecast during the 2021 eruption of Fagradalsfjall, Iceland
- 2024
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Ingår i: Journal of Volcanology and Geothermal Research. - 0377-0273. ; 449
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Tidskriftsartikel (refereegranskat)abstract
- During the low-effusion rate Fagradalsfjall eruption (19 March – 18 September 2021), the emission of sulfur dioxide (SO2) was frequently measured using ground-based UV spectrometers. The total SO2 emitted during the entire eruption was 970 ± 540 kt, which is only about 6% of the SO2 emitted during the similar length Holuhraun eruption (2014–2015). The eruption was divided into five phases based on visual observations, including the number of active vents and the occurrence of lava fountaining. The SO2 emission rate ranged from 44 ± 19 kg/s in Phase 2 to 85 ± 29 kg/s in Phase 5, with an average of 64 ± 34 kg/s for the entire eruption. There was notable variability in SO2 on short timescales, with measurements on 11 August 2021 ranging from 17 to 78 kg/s. SO2 flux measurements were made using scanning DOAS instruments located at different distances from and orientations relative to the eruption site augmented by traverses. Four hundred and forty-four scan and traverse measurements met quality criteria and were used, along with plume height and meteorological data, to calculate SO2 fluxes while accounting for wind-related uncertainties. A tendency for stronger SO2 flux concurrent with higher amplitude seismic tremor and the occurrence of lava fountaining was observed during Phases 4 and 5 which were characterized by intermittent crater activity including observable effusion of lava and gas release interspersed with long repose times. This tendency was used to refine the calculation of the amount of SO2 emitted during variably vigorous activity. The continuous seismic tremor time series was used to quantify how long during these eruption phases strong/weak activity was exhibited to improve the calculated SO2 flux during these Phases. The total SO2 emissions derived from field measurements align closely with results obtained by combining melt inclusion and groundmass glass analyses with lava effusion rate measurements (910 ± 230 kt SO2). Specifically, utilizing the maximum S content found in evolved melt inclusions and the least remaining S content in accompanying quenched groundmasses provides an identical result between field measurements and the petrological calculations. This suggests that the maximum SO2 release calculated from petrological estimates should be preferentially used to initialize gas dispersion models for basaltic eruptions when other measurements are lacking. During the eruption, the CALPUFF dispersion model was used to forecast ground-level exposure to SO2. The SO2 emission rates measured by DOAS were used as input for the dispersion model, with updates made when a significant change was measured. A detailed analysis of one mid-distance station over the entire eruption shows that the model performed very well at predicting the presence of volcanic SO2 when it was measured. However, it frequently predicted the presence of SO2 that was not measured and the concentrations forecasted had no correlation with the concentrations measured. Various approaches to improve the model forecast were tested, including updating plume height and SO2 flux source terms based on measurements. These approaches did not unambiguously improve the model performance but suggest that improvements might be achieved in more-polluted conditions.
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