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- 2019
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Tidskriftsartikel (refereegranskat)
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| 2. |
- Chen, Zhishan, et al.
(författare)
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Fine-mapping analysis including over 254 000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes
- 2024
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Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 15:1
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have identified more than 200 common genetic variants independently associated with colorectal cancer (CRC) risk, but the causal variants and target genes are mostly unknown. We sought to fine-map all known CRC risk loci using GWAS data from 100,204 cases and 154,587 controls of East Asian and European ancestry. Our stepwise conditional analyses revealed 238 independent association signals of CRC risk, each with a set of credible causal variants (CCVs), of which 28 signals had a single CCV. Our cis-eQTL/mQTL and colocalization analyses using colorectal tissue-specific transcriptome and methylome data separately from 1299 and 321 individuals, along with functional genomic investigation, uncovered 136 putative CRC susceptibility genes, including 56 genes not previously reported. Analyses of single-cell RNA-seq data from colorectal tissues revealed 17 putative CRC susceptibility genes with distinct expression patterns in specific cell types. Analyses of whole exome sequencing data provided additional support for several target genes identified in this study as CRC susceptibility genes. Enrichment analyses of the 136 genes uncover pathways not previously linked to CRC risk. Our study substantially expanded association signals for CRC and provided additional insight into the biological mechanisms underlying CRC development.
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| 3. |
- Chau, Pui Hing, et al.
(författare)
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Visits to the accident and emergency department in hot season of a city with subtropical climate: association with heat stress and related meteorological variables
- 2022
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Ingår i: International journal of biometeorology. - : Springer Nature. - 0020-7128 .- 1432-1254. ; 66:10, s. 1955-1971
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Tidskriftsartikel (refereegranskat)abstract
- Background Literature reporting the association between heat stress defined by universal thermal climate index (UTCI) and emergency department visits is mainly conducted in Europe. This study aimed to investigate the association between heat stress, as defined by the UTCI, and visits to the accident and emergency department (AED) in Hong Kong, which represents a subtropical climate region.Methods A retrospective study involving 13,438,846 AED visits in the public sector from May 2000 to September 2016, excluding 2003 and 2009, was conducted in Hong Kong. Age-sex-specific ANCOVA models of daily AED rates on heat stress and prolonged heat stress, adjusting for air quality, prolonged poor air quality, typhoon, rainstorm, year, day of the week, public holiday, summer vacation, and fee charging, were used.Results On a day with strong heat stress (32.1 °C ≤ UTCI ≤ 38.0 °C), the AED visit rate (per 100,000) increased by 0.9 (95% CI: 0.5, 1.3) and 1.7 (95% CI: 1.3, 2.1) for females and males aged 19–64 and 4.1 (95% CI: 2.7, 5.4) and 4.1 (95% CI: 2.6, 5.6) for females and males aged ≥ 65, while keeping other variables constant. On a day with very strong heat stress (38.1 °C ≤ UTCI ≤ 46.0 °C), the corresponding rates increased by 0.6 (95% CI: 0.1, 1.2), 2.2 (95% CI: 1.7, 2.7), 4.9 (95% CI: 3.1, 6.7), and 4.7 (95% CI: 2.7, 6.6), respectively. The effect size of heat stress associated with AED visit rates was negligible among those aged ≤ 18. Heat stress showed the greatest effect size for males aged 19–64 among all subgroups.Conclusion Biothermal condition from heat stress was associated with the health of the citizens in a city with a subtropical climate and reflected in the increase of daily AED visit. Public health recommendations have been made accordingly for the prevention of heat-related AED visits.
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| 5. |
- Elsik, Christine G., et al.
(författare)
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The Genome Sequence of Taurine Cattle : A Window to Ruminant Biology and Evolution
- 2009
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 324:5926, s. 522-528
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Tidskriftsartikel (refereegranskat)abstract
- To understand the biology and evolution of ruminants, the cattle genome was sequenced to about sevenfold coverage. The cattle genome contains a minimum of 22,000 genes, with a core set of 14,345 orthologs shared among seven mammalian species of which 1217 are absent or undetected in noneutherian (marsupial or monotreme) genomes. Cattle-specific evolutionary breakpoint regions in chromosomes have a higher density of segmental duplications, enrichment of repetitive elements, and species-specific variations in genes associated with lactation and immune responsiveness. Genes involved in metabolism are generally highly conserved, although five metabolic genes are deleted or extensively diverged from their human orthologs. The cattle genome sequence thus provides a resource for understanding mammalian evolution and accelerating livestock genetic improvement for milk and meat production.
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| 6. |
- Fong, K. F., et al.
(författare)
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Residential building performance analysis at near extreme weather conditions in Hong Kong through a thermal-comfort-based strategy
- 2023
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Ingår i: Building Simulation. - : Springer Nature. - 1996-3599 .- 1996-8744. ; 16, s. 13-25
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Tidskriftsartikel (refereegranskat)abstract
- The precise building performance assessment of residential housings in subtropical regions is usually more difficult than that for the commercial premises due to the much more complicated behavior of the occupants with regard to the change in indoor temperature. The conventional use of a fixed schedule for window opening, clothing insulation and cooling equipment operation cannot reflect the real situation when the occupants respond to the change in thermal comfort, thus affecting the appropriateness of the assessment results. To rectify the situation, a new modeling strategy in which the modification of the various operation schedules was based on the calculated thermal comfort (TC), was developed in this study. With this new TC-based strategy, the realistic building performances under different cooling provision scenarios applied to a high-rise residential building under the near extreme weather conditions were investigated and compared. It was found that sole provision of ventilation fans could not meet the zone thermal comfort by over 68% of the time, and air-conditioning was essential. The optimal use of ventilation fans for cooling could only help reduce the total cooling energy demand by less than 12% at best which could only be realistically evaluated by adopting the present strategy. Parametric studies were conducted which revealed that some design factors could offer opportunities for reducing the total cooling energy under the near extreme weather conditions.
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| 7. |
- Fresard, Laure, et al.
(författare)
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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- 2019
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Ingår i: Nature Medicine. - : NATURE PUBLISHING GROUP. - 1078-8956 .- 1546-170X. ; 25:6, s. 911-919
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Tidskriftsartikel (refereegranskat)abstract
- It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene(1). The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful approaches(2-5). For patients in whom WES is uninformative, RNA sequencing (RNA-seq) has shown diagnostic utility in specific tissues and diseases(6-8). This includes muscle biopsies from patients with undiagnosed rare muscle disorders(6,9), and cultured fibroblasts from patients with mitochondrial disorders(7). However, for many individuals, biopsies are not performed for clinical care, and tissues are difficult to access. We sought to assess the utility of RNA-seq from blood as a diagnostic tool for rare diseases of different pathophysiologies. We generated whole-blood RNA-seq from 94 individuals with undiagnosed rare diseases spanning 16 diverse disease categories. We developed a robust approach to compare data from these individuals with large sets of RNA-seq data for controls (n = 1,594 unrelated controls and n = 49 family members) and demonstrated the impacts of expression, splicing, gene and variant filtering strategies on disease gene identification. Across our cohort, we observed that RNA-seq yields a 7.5% diagnostic rate, and an additional 16.7% with improved candidate gene resolution.
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| 9. |
- Hagger, Martin S., et al.
(författare)
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A Multilab Preregistered Replication of the Ego-Depletion Effect
- 2016
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Ingår i: Perspectives on Psychological Science. - : Sage Publications. - 1745-6916 .- 1745-6924. ; 11:4, s. 546-573
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Tidskriftsartikel (refereegranskat)abstract
- Good self-control has been linked to adaptive outcomes such as better health, cohesive personal relationships, success in the workplace and at school, and less susceptibility to crime and addictions. In contrast, self-control failure is linked to maladaptive outcomes. Understanding the mechanisms by which self-control predicts behavior may assist in promoting better regulation and outcomes. A popular approach to understanding self-control is the strength or resource depletion model. Self-control is conceptualized as a limited resource that becomes depleted after a period of exertion resulting in self-control failure. The model has typically been tested using a sequential-task experimental paradigm, in which people completing an initial self-control task have reduced self-control capacity and poorer performance on a subsequent task, a state known as ego depletion. Although a meta-analysis of ego-depletion experiments found a medium-sized effect, subsequent meta-analyses have questioned the size and existence of the effect and identified instances of possible bias. The analyses served as a catalyst for the current Registered Replication Report of the ego-depletion effect. Multiple laboratories (k = 23, total N = 2,141) conducted replications of a standardized ego-depletion protocol based on a sequential-task paradigm by Sripada et al. Meta-analysis of the studies revealed that the size of the ego-depletion effect was small with 95% confidence intervals (CIs) that encompassed zero (d = 0.04, 95% CI [-0.07, 0.15]. We discuss implications of the findings for the ego-depletion effect and the resource depletion model of self-control.
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| 10. |
- Ho, Hung Chak, et al.
(författare)
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“Planned greenspace” or “natural greenspace” in a high-density city with compact environment? An empirical study of osteoporosis among senior population
- 2022
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Ingår i: Building and Environment. - : Elsevier. - 0360-1323 .- 1873-684X. ; 219
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Tidskriftsartikel (refereegranskat)abstract
- Osteoporosis is a major physical health issue in healthy ageing among urban populations. However, few studies have investigated how greenspace can influence osteoporosis, especially to those who lived in a compact city with high-density living environment. Furthermore, no studies have investigated how “planned greenspace” and “natural greenspace” can separately influence osteoporosis among senior population. We hereby conducted an empirical study to evaluate the relationship between osteoporosis, “planned greenspace” and “natural greenspace”, based on the use of land use data derived from local geospatial information and satellite images. Our results showed that seniors who were 1) aged, 2) female, 3) less educated, 4) smokers, and 5) with chronic respiratory diseases were associated with osteoporosis. Considering factors of greenspace, a higher percentage of planned greenspace surrounding the residence may be a protective factor while natural greenspace did not influence the individuals. Specifically, a 10% increase of planned greenspace within the 600-m radius area surrounding the residence was negative associated with osteoporosis (−2.8% [-5.1%, −0.5%]). Based on our results, development of planned greenspace may be necessary, as compact built environment of a high-density city often resulted in a lack of planned greenspace for physical activities. Along with the World Health Organization (WHO) guidelines for an age-friendly city, our findings suggest that improving the planned greenspace in a walkable distance around one's neighboring environment is a potential strategy for prevention of osteoporosis and related physical health issues as well as for life quality improvement among the senior population.
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