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| 2. |
- Abelev, Betty, et al.
(author)
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Long-range angular correlations on the near and away side in p-Pb collisions at root S-NN=5.02 TeV
- 2013
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In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 719:1-3, s. 29-41
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Journal article (peer-reviewed)abstract
- Angular correlations between charged trigger and associated particles are measured by the ALICE detector in p-Pb collisions at a nucleon-nucleon centre-of-mass energy of 5.02 TeV for transverse momentum ranges within 0.5 < P-T,P-assoc < P-T,P-trig < 4 GeV/c. The correlations are measured over two units of pseudorapidity and full azimuthal angle in different intervals of event multiplicity, and expressed as associated yield per trigger particle. Two long-range ridge-like structures, one on the near side and one on the away side, are observed when the per-trigger yield obtained in low-multiplicity events is subtracted from the one in high-multiplicity events. The excess on the near-side is qualitatively similar to that recently reported by the CMS Collaboration, while the excess on the away-side is reported for the first time. The two-ridge structure projected onto azimuthal angle is quantified with the second and third Fourier coefficients as well as by near-side and away-side yields and widths. The yields on the near side and on the away side are equal within the uncertainties for all studied event multiplicity and p(T) bins, and the widths show no significant evolution with event multiplicity or p(T). These findings suggest that the near-side ridge is accompanied by an essentially identical away-side ridge. (c) 2013 CERN. Published by Elsevier B.V. All rights reserved.
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| 3. |
- Justice, Anne E., et al.
(author)
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Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution
- 2019
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In: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 51:3, s. 452-469
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Journal article (peer-reviewed)abstract
- Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF >= 5%) and nine low-frequency or rare (MAF < 5%) coding novel variants. Pathway/gene set enrichment analyses identified lipid particle, adiponectin, abnormal white adipose tissue physiology and bone development and morphology as important contributors to fat distribution, while cross-trait associations highlight cardiometabolic traits. In functional follow-up analyses, specifically in Drosophila RNAi-knockdowns, we observed a significant increase in the total body triglyceride levels for two genes (DNAH10 and PLXND1). We implicate novel genes in fat distribution, stressing the importance of interrogating low-frequency and protein-coding variants.
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| 4. |
- Marouli, Eirini, et al.
(author)
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Rare and low-frequency coding variants alter human adult height
- 2017
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 542:7640, s. 186-190
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Journal article (peer-reviewed)abstract
- Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.
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| 5. |
- Tang, Sui, et al.
(author)
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Association of plant-based diet index with sleep quality in middle-aged and older adults : The Healthy Dance Study
- 2023
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In: Sleep Health. - : Elsevier. - 2352-7218 .- 2352-7226. ; 9:5, s. 698-703
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Journal article (peer-reviewed)abstract
- Objectives: To investigate the association between plant-based diet indices and sleep quality in Chinese middle-aged and older adults.Methods: The study included 2424 participants aged 45 years and older. Dietary data were collected using a semi-quantitative food frequency questionnaire, and sleep quality was assessed by the Pittsburgh Sleep Quality Index scale. Plant-based diet was categorized based on 3 indices (score range, 17-85) covering 17 food groups: the overall plant-based diet index, healthful plant-based diet index, and unhealthful plant-based diet index. The associations between these plant-based diet indices and sleep quality were examined using logistic and linear regression analyses.Results: After controlling for sociodemographic, lifestyle, and multiple disease-related factors, participants in the highest quartile of the healthful plant-based diet index had 0.55 higher odds of better sleep quality (95% CI: 0.42, 0.72; P-trend < .001). In contrast, participants in the highest quartile of the unhealthful plant-based diet index had 2.03 higher odds of poor sleep quality (95% CI: 1.51, 2.72; P-trend < .001). In addition, plant-based diet index and healthful plant-based diet index were inversely associated with Pittsburgh Sleep Quality Index scores, while unhealthful plant-based diet index and Pittsburgh Sleep Quality Index scores were positively associated.Conclusions: We found unhealthy plant-based diets are significantly associated with poor sleep quality. Adherence to overall plant-based diets, especially healthy plant-based diets, was positively associated with optimal sleep quality.(c) 2023 National Sleep Foundation. Published by Elsevier Inc. All rights reserved.
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| 6. |
- Turcot, Valerie, et al.
(author)
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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
- 2018
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In: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 50:1, s. 26-41
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Journal article (peer-reviewed)abstract
- Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are similar to 10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed similar to 7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.
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| 7. |
- Wang, Puyu, et al.
(author)
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A Test Study of an Energy and Mass Balance Model Application to a Site on Urumqi Glacier No. 1, Chinese Tian Shan
- 2020
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In: Water. - : MDPI AG. - 2073-4441. ; 12:10
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Journal article (peer-reviewed)abstract
- In this study, energy and mass balance is quantified using an energy balance model to represent the glacier melt of Urumqi Glacier No. 1, Chinese Tian Shan. Based on data from an Automatic Weather Station (4025 m a.s.l) and the mass balance field survey data nearby on the East Branch of the glacier, the “COupled Snowpack and Ice surface energy and Mass balance model” (COSIMA) was used to derive energy and mass balance simulations during the ablation season of 2018. Results show that the modeled cumulative mass balance (−0.67 ± 0.03 m w.e.) agrees well with the in-situ measurements (−0.64 ± 0.16 m w.e.) (r2 = 0.96) with the relative difference within 5% during the study period. The correlation coefficient between modeled and observed surface temperatures is 0.88 for daily means. The main source of melt energy at the glacier surface is net shortwave radiation (84%) and sensible heat flux (16%). The energy expenditures are from net longwave radiation (55%), heat flux for snow/ice melting (32%), latent heat flux of sublimation and evaporation (7%), and subsurface heat flux (6%). The sensitivity testing of mass balance shows that mass balance is more sensitive to temperature increase and precipitation decrease than temperature decrease and precipitation increase.
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| 8. |
- Wu, Qi-Zhen, et al.
(author)
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Long-term exposure to major constituents of fine particulate matter and neurodegenerative diseases : a population-based survey in the Pearl River Delta Region, China
- 2024
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In: Journal of Hazardous Materials. - : Elsevier. - 0304-3894 .- 1873-3336. ; 470
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Journal article (peer-reviewed)abstract
- Background: Exposure to PM2.5 has been linked to neurodegenerative diseases, with limited understanding of constituent-specific contributions.Objectives: To explore the associations between long-term exposure to PM2.5 constituents and neurodegenerative diseases.Methods: We recruited 148,274 individuals aged ≥ 60 from four cities in the Pearl River Delta region, China (2020 to 2021). We calculated twenty-year average air pollutant concentrations (PM2.5 mass, black carbon (BC), organic matter (OM), ammonium (NH4+), nitrate (NO3-) and sulfate (SO42-)) at the individuals' home addresses. Neurodegenerative diseases were determined by self-reported doctor-diagnosed Alzheimer's disease (AD) and Parkinson's disease (PD). Generalized linear mixed models were employed to explore associations between pollutants and neurodegenerative disease prevalence.Results: PM2.5 and all five constituents were significantly associated with a higher prevalence of AD and PD. The observed associations generally exhibited a non-linear pattern. For example, compared with the lowest quartile, higher quartiles of BC were associated with greater odds for AD prevalence (i.e., the adjusted odds ratios were 1.81; 95% CI, 1.45–2.27; 1.78; 95% CI, 1.37–2.32; and 1.99; 95% CI, 1.54–2.57 for the second, third, and fourth quartiles, respectively).Conclusions: Long-term exposure to PM2.5 and its constituents, particularly combustion-related BC, OM, and SO42-, was significantly associated with higher prevalence of AD and PD in Chinese individuals.Environmental implication: PM2.5 is a routinely regulated mixture of multiple hazardous constituents that can lead to diverse adverse health outcomes. However, current evidence on the specific contributions of PM2.5 constituents to health effects is scarce. This study firstly investigated the association between PM2.5 constituents and neurodegenerative diseases in the moderately to highly polluted Pearl River Delta region in China, and identified hazardous constituents within PM2.5 that have significant impacts. This study provides important implications for the development of targeted PM2.5 prevention and control policies to reduce specific hazardous PM2.5 constituents.
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