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| 2. |
- 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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| 3. |
- Stacey, Simon N, et al.
(författare)
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Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus.
- 2010
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Ingår i: PLoS genetics. - : Public Library of Science. - 1553-7404. ; 6:7, s. e1001029-
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Tidskriftsartikel (refereegranskat)abstract
- We used an approach that we term ancestry-shift refinement mapping to investigate an association, originally discovered in a GWAS of a Chinese population, between rs2046210[T] and breast cancer susceptibility. The locus is on 6q25.1 in proximity to the C6orf97 and estrogen receptor alpha (ESR1) genes. We identified a panel of SNPs that are correlated with rs2046210 in Chinese, but not necessarily so in other ancestral populations, and genotyped them in breast cancer case:control samples of Asian, European, and African origin, a total of 10,176 cases and 13,286 controls. We found that rs2046210[T] does not confer substantial risk of breast cancer in Europeans and Africans (OR = 1.04, P = 0.099, and OR = 0.98, P = 0.77, respectively). Rather, in those ancestries, an association signal arises from a group of less common SNPs typified by rs9397435. The rs9397435[G] allele was found to confer risk of breast cancer in European (OR = 1.15, P = 1.2 x 10(-3)), African (OR = 1.35, P = 0.014), and Asian (OR = 1.23, P = 2.9 x 10(-4)) population samples. Combined over all ancestries, the OR was 1.19 (P = 3.9 x 10(-7)), was without significant heterogeneity between ancestries (P(het) = 0.36) and the SNP fully accounted for the association signal in each ancestry. Haplotypes bearing rs9397435[G] are well tagged by rs2046210[T] only in Asians. The rs9397435[G] allele showed associations with both estrogen receptor positive and estrogen receptor negative breast cancer. Using early-draft data from the 1,000 Genomes project, we found that the risk allele of a novel SNP (rs77275268), which is closely correlated with rs9397435, disrupts a partially methylated CpG sequence within a known CTCF binding site. These studies demonstrate that shifting the analysis among ancestral populations can provide valuable resolution in association mapping.
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| 5. |
- Bergenzaun, L., et al.
(författare)
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Mitral annular Plane Systolic Excursion (Mapse) in Shock : a Valuable Echocardiographic Parameter in Intensive Care Patients
- 2013
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Ingår i: Intensive Care Medicine. - : Springer. - 0342-4642 .- 1432-1238. ; 39, s. S393-S393
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- INTRODUCTION. Assessing left ventricular (LV) dysfunction by echocardiography in ICU patients is common. In patients with cardiovascular disease mitral annular plane sys- tolic excursion (MAPSE) is known to be more sensitive in detecting abnormalities in LV function at an early stage, easily obtainable and related to prognosis. OBJECTIVES. The aim of this study was to investigate MAPSE in critically ill patients with shock and its relation to LV systolic and diastolic function, myocardial injury and to outcome. METHODS. In a prospective, observational, cohort study we enrolled 50 patients with SIRS and shock despite fluid resuscitation. Transthoracic echocardiography (TTE) mea- suring LV systolic and diastolic function was performed within 12 h after admission and daily for a 7-day observation period. TTE and laboratory measurements (high-sensitive troponin T (hsTNT), B-natriuretic peptide [BNP]) were related to 28-day mortality. Spearman rank correlation was used. RESULTS. MAPSE on day 1 correlated significantly with LV ejection fraction (LVEF), tissue Doppler indices of LV diastolic function (e ́ , E/e ́ ) and hsTNT whereas LVEF did not correlate significantly with any marker of LV diastolic function or myocardial injury; tissue Doppler of LV systolic function (TDIs) correlated significantly with LVEF and e ́ (Table 1). Compared to survivors, non-survivors had a significantly lower MAPSE (8 [IQR 7.5–11] versus 11 [IQR 8.9–13] mm; p = 0.028). Other univariate predictors were age (p = 0.033), hsTNT (p = 0.014) and Sequential Organ Failure Assessment (SOFA) scores (p = 0.007). By multivariate analysis MAPSE (OR 0.6 (95 % CI 0.5–0.9) p = 0.015) and SOFA score (OR 1.6 (95 % CI 1.1–2.3) p = 0.018) were identified as independent predictors of mor- tality. Daily measurements showed that MAPSE, as sole echocardiographic marker, was significantly lower in most days in non-survivors (p \ 0.05 at day 1–2, 4–6). CONCLUSIONS. MAPSE seemed to reflect LV systolic and diastolic function as well as myocardial injury in critically ill patients with shock. The combination of MAPSE and SOFA added to the predictive value for 28-day mortality
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| 7. |
- Gudmundsson, P, et al.
(författare)
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Parametric quantification of myocardial ischaemia using real-time perfusion adenosine stress echocardiography images, with SPECT as reference method.
- 2010
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Ingår i: Clinical Physiology and Functional Imaging. - 1475-0961. ; 30:1, s. 30-42
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Tidskriftsartikel (refereegranskat)abstract
- Summary Background: Real-time perfusion (RTP) adenosine stress echocardiography (ASE) can be used to visually evaluate myocardial ischaemia. The RTP power modulation technique, provides images for off-line parametric perfusion quantification using Qontrast((R)) software. From replenishment curves, this generates parametric images of peak signal intensity (A), myocardial blood flow velocity (beta) and myocardial blood flow (Axbeta) at rest and stress. This may be a tool for objective myocardial ischaemia evaluation. We assessed myocardial ischaemia by RTP-ASE Qontrast((R))-generated images, using 99mTc-tetrofosmin single-photon emission computed tomography (SPECT) as reference. Methods: Sixty-seven patients admitted to SPECT underwent RTP-ASE (SONOS 5500) during Sonovue((R)) infusion, before and throughout adenosine stress, also used for SPECT. Quantitative off-line analyses of myocardial perfusion by RTP-ASE Qontrast((R))-generated A, beta and Axbeta images, at different time points during rest and stress, were blindly compared to SPECT. Results: We analysed 201 coronary territories [corresponding to the left anterior descendent (LAD), left circumflex (LCx) and right coronary (RCA) arteries] from 67 patients. SPECT showed ischaemia in 18 patients. Receiver operator characteristics and kappa values showed that A, beta and Axbeta image interpretation significantly identified ischaemia in all territories (area under the curve 0.66-0.80, P = 0.001-0.05). Combined A, beta and Axbeta image interpretation gave the best results and the closest agreement was seen in the LAD territory: 89% accuracy; kappa 0.63; P<0.001. Conclusion: Myocardial isachemia can be evaluated in the LAD territory using RTP-ASE Qontrast((R))-generated images, especially by combined A, beta and Axbeta image interpretation. However, the technique needs improvements regarding the LCx and RCA territories.
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| 8. |
- Gudmundsson, Valur, et al.
(författare)
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Simulation of low Schottky barrier MOSFETs using an improved Multi-subband Monte Carlo model
- 2013
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Ingår i: Solid-State Electronics. - : Elsevier BV. - 0038-1101 .- 1879-2405. ; 79, s. 172-178
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Tidskriftsartikel (refereegranskat)abstract
- We present a simple and efficient approach to implement Schottky barrier contacts in a Multi-subband Monte Carlo simulator by using the subband smoothening technique to mimic tunneling at the Schottky junction. In the absence of scattering, simulation results for Schottky barrier MOSFETs are in agreement with ballistic Non-Equilibrium Green's Functions calculations. We then include the most relevant scattering mechanisms, and apply the model to the study of double gate Schottky barrier MOSFETs representative of the ITRS 2015 high performance device. Results show that a Schottky barrier height of less than approximately 0.15 eV is required to outperform the doped source/drain structure.
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