| 1. |
- de Vries, Paul S., et al.
(författare)
-
Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study
- 2017
-
Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 12:1
-
Tidskriftsartikel (refereegranskat)abstract
- An increasing number of genome-wide association (GWA) studies are now using the higher resolution 1000 Genomes Project reference panel (1000G) for imputation, with the expectation that 1000G imputation will lead to the discovery of additional associated loci when compared to HapMap imputation. In order to assess the improvement of 1000G over HapMap imputation in identifying associated loci, we compared the results of GWA studies of circulating fibrinogen based on the two reference panels. Using both HapMap and 1000G imputation we performed a meta-analysis of 22 studies comprising the same 91,953 individuals. We identified six additional signals using 1000G imputation, while 29 loci were associated using both HapMap and 1000G imputation. One locus identified using HapMap imputation was not significant using 1000G imputation. The genome-wide significance threshold of 5x10(-8) is based on the number of independent statistical tests using HapMap imputation, and 1000G imputation may lead to further independent tests that should be corrected for. When using a stricter Bonferroni correction for the 1000G GWA study (P-value < 2.5x10(-8)), the number of loci significant only using HapMap imputation increased to 4 while the number of loci significant only using 1000G decreased to 5. In conclusion, 1000G imputation enabled the identification of 20% more loci than HapMap imputation, although the advantage of 1000G imputation became less clear when a stricter Bonferroni correction was used. More generally, our results provide insights that are applicable to the implementation of other dense reference panels that are under development.
|
|
| 2. |
- Jang, Seon-Kyeong, et al.
(författare)
-
Rare genetic variants explain missing heritability in smoking.
- 2022
-
Ingår i: Nature human behaviour. - : Springer Science and Business Media LLC. - 2397-3374. ; 6:11, s. 1577-1586
-
Tidskriftsartikel (refereegranskat)abstract
- Common genetic variants explain less variation in complex phenotypes than inferred from family-based studies, and there is a debate on the source of this 'missing heritability'. We investigated the contribution of rare genetic variants to tobacco use with whole-genome sequences from up to 26,257 unrelated individuals of European ancestries and 11,743 individuals of African ancestries. Across four smoking traits, single-nucleotide-polymorphism-based heritability ([Formula: see text]) was estimated from 0.13 to 0.28 (s.e., 0.10-0.13) in European ancestries, with 35-74% of it attributable to rare variants with minor allele frequencies between 0.01% and 1%. These heritability estimates are 1.5-4 times higher than past estimates based on common variants alone and accounted for 60% to 100% of our pedigree-based estimates of narrow-sense heritability ([Formula: see text], 0.18-0.34). In the African ancestry samples, [Formula: see text] was estimated from 0.03 to 0.33 (s.e., 0.09-0.14) across the four smoking traits. These results suggest that rare variants are important contributors to the heritability of smoking.
|
|
| 3. |
- Jin, Yanghao, et al.
(författare)
-
A novel three-stage ex-situ catalytic pyrolysis process for improved bio-oil yield and quality from lignocellulosic biomass
- 2024
-
Ingår i: Energy. - : Elsevier Ltd. - 0360-5442 .- 1873-6785. ; 295
-
Tidskriftsartikel (refereegranskat)abstract
- This study aims to improve the quality and yield of bio-oil produced from ex-situ catalytic pyrolysis of lignocellulosic biomass (sawdust) using a combination of stage catalysts with Al-MCM-41, HZSM-5, and ZrO2. The research employed various methods, including thermogravimetric analysis (TGA), differential scanning calorimetry, bench-scale experiments, and process simulations to analyze the kinetics, thermodynamics, products, and energy flows of the catalytic upgrading process. The introduction of ZrO2 enhances the yield of monoaromatic hydrocarbons (MAHs) in heavy organics. Compared with the dual-catalyst case, the MAHs yield escalates by approximately 344% at a catalyst ratio of 1:3:0.25. Additionally, GC-MS data indicate that the incorporation of ZrO2 promotes the deoxygenation reaction of the guaiacol compound and the oligomerization reactions of PAHs. The integration of ZrO2 as the third catalyst enhances the yield of heavy organics significantly, achieving 16.85% at a catalyst ratio of 1:3:1, which increases by nearly 35.6% compared to the dual-catalyst case. Also, the addition of ZrO2 as the third catalyst enhanced the energy distribution in heavy organics. These findings suggest that the combination of these catalysts improves the fuel properties and yields of the bio-oil.
|
|
| 4. |
- Robinson-Cohen, Cassianne, et al.
(författare)
-
Genetic Variants Associated with Circulating Parathyroid Hormone.
- 2017
-
Ingår i: Journal of the American Society of Nephrology : JASN. - 1533-3450. ; 28:5, s. 1553-1565
-
Tidskriftsartikel (refereegranskat)abstract
- Parathyroid hormone (PTH) is a primary calcium regulatory hormone. Elevated serum PTH concentrations in primary and secondary hyperparathyroidism have been associated with bone disease, hypertension, and in some studies, cardiovascular mortality. Genetic causes of variation in circulating PTH concentrations are incompletely understood. We performed a genome-wide association study of serum PTH concentrations among 29,155 participants of European ancestry from 13 cohort studies (n=22,653 and n=6502 in discovery and replication analyses, respectively). We evaluated the association of single nucleotide polymorphisms (SNPs) with natural log-transformed PTH concentration adjusted for age, sex, season, study site, and principal components of ancestry. We discovered associations of SNPs from five independent regions with serum PTH concentration, including the strongest association with rs6127099 upstream of CYP24A1 (P=4.2 × 10(-53)), a gene that encodes the primary catabolic enzyme for 1,25-dihydroxyvitamin D and 25-dihydroxyvitamin D. Each additional copy of the minor allele at this SNP associated with 7% higher serum PTH concentration. The other SNPs associated with serum PTH concentration included rs4074995 within RGS14 (P=6.6 × 10(-17)), rs219779 adjacent to CLDN14 (P=3.5 × 10(-16)), rs4443100 near RTDR1 (P=8.7 × 10(-9)), and rs73186030 near CASR (P=4.8 × 10(-8)). Of these five SNPs, rs6127099, rs4074995, and rs219779 replicated. Thus, common genetic variants located near genes involved in vitamin D metabolism and calcium and renal phosphate transport associated with differences in circulating PTH concentrations. Future studies could identify the causal variants at these loci, and the clinical and functional relevance of these variants should be pursued.
|
|
| 5. |
- Sennblad, Bengt, et al.
(författare)
-
Genome- wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels
- 2017
-
Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 26:3, s. 637-649
-
Tidskriftsartikel (refereegranskat)abstract
- Coagulation factor XI (FXI) has become increasingly interesting for its role in pathogenesis of thrombosis. While elevated plasma levels of FXI have been associated with venous thromboembolism and ischemic stroke, its deficiency is associated with mild bleeding. We aimed to determine novel genetic and post-transcriptional plasma FXI regulators. We performed a genome-wide association study (GWAS) for plasma FXI levels, using novel data imputed to the 1000 Genomes reference panel. Individual GWAS analyses, including a total of 16,169 European individuals from the ARIC, GHS, MARTHA and PROCARDIS studies, were meta-analysed and further replicated in 2,045 individuals from the F5L family, GAIT2 and MEGA studies. Additional association with activated partial thromboplastin time (aPTT) was tested for the top SNPs. In addition, a study on the effect of miRNA on FXI regulation was performed using in silico prediction tools and in vitro luciferase assays. Three loci showed robust, replicating association with circulating FXI levels: KNG1 (rs710446, P-value = 2.07 x 10(-302)), F11 (rs4253417, P-value = 2.86 x 10(-193)), and a novel association in GCKR (rs780094, P-value = 3.56 x 10(-09)), here for the first time implicated in FXI regulation. The two first SNPs (rs710446 and rs4253417) also associated with aPTT. Conditional and haplotype analyses demonstrated a complex association signal, with additional novel SNPs modulating plasma FXI levels in both the F11 and KNG1 loci. Finally, eight miRNAs were predicted to bind F11 mRNA. Over-expression of either miR-145 or miR-181 significantly reduced the luciferase activity in cells transfected with a plasmid containing FXI-3'UTR. These results should open the door to new therapeutic targets for thrombosis prevention.
|
|
| 6. |
- Wang, Shule, et al.
(författare)
-
Van Krevelen diagrams based on machine learning visualize feedstock-product relationships in thermal conversion processes
- 2023
-
Ingår i: Communications Chemistry. - : Springer Nature. - 2399-3669. ; 6:1
-
Tidskriftsartikel (refereegranskat)abstract
- Feedstock properties play a crucial role in thermal conversion processes, where understanding the influence of these properties on treatment performance is essential for optimizing both feedstock selection and the overall process. In this study, a series of van Krevelen diagrams were generated to illustrate the impact of H/C and O/C ratios of feedstock on the products obtained from six commonly used thermal conversion techniques: torrefaction, hydrothermal carbonization, hydrothermal liquefaction, hydrothermal gasification, pyrolysis, and gasification. Machine learning methods were employed, utilizing data, methods, and results from corresponding studies in this field. Furthermore, the reliability of the constructed van Krevelen diagrams was analyzed to assess their dependability. The van Krevelen diagrams developed in this work systematically provide visual representations of the relationships between feedstock and products in thermal conversion processes, thereby aiding in optimizing the selection of feedstock and the choice of thermal conversion technique.
|
|
| 7. |
- Wen, Yuming, et al.
(författare)
-
H2-rich syngas production from pyrolysis of agricultural waste digestate coupled with the hydrothermal carbonization process
- 2022
-
Ingår i: Energy Conversion and Management. - : Elsevier BV. - 0196-8904 .- 1879-2227. ; 269, s. 116101-116101
-
Tidskriftsartikel (refereegranskat)abstract
- A novel process to produce a H2-rich syngas from a high moisture-containing agricultural waste digestate is proposed. This process combines the use of hydrothermal carbonization (HTC), dewatering, pyrolysis, and catalytic reforming. Due to the feature of the high moisture content in the digestate, the effect of the HTC and dewatering on the process performance is of interest, and four scenarios were considered. Furthermore, three pyrolytic temperatures were chosen to understand the effect of pyrolysis conditions on the produced H2-rich syngas. A life cycle assessment was conducted to investigate the environmental impact of the proposed process. Results show that the application of HTC technology, increases the process efficiency, produces less syngas from one ton of digestate, lowers the cumulative energy demand and the negative carbon emissions. When the dewatering technology is used, the syngas yield is promoted but the H2 concentration in the syngas is reduced. The H2 to CO molar ratio reaches the maximum value of 9.2 when using a 450 ˚C pyrolysis temperature, by only using HTC. When the combining process of HTC and dewatering is used, it results in the highest process efficiency, but the smallest relative negative CO2 equivalent emissions by treating one ton of dry digestate.
|
|
| 8. |
- Wen, Yuming, et al.
(författare)
-
Pyrolysis of engineered beach-cast seaweed : Performances and life cycle assessment
- 2022
-
Ingår i: Water Research. - : Elsevier BV. - 0043-1354 .- 1879-2448. ; 222
-
Tidskriftsartikel (refereegranskat)abstract
- The blooming of beach-cast seaweed has caused environmental degradation in some coastal regions. Therefore, a proper treating and utilizing method of beach-cast seaweed is demanded. This study investigated the potential of producing power or biofuel from pyrolysis of beach-cast seaweed and the effect of the ash-washing process. First, the raw and washed beach-cast seaweeds (RS and WS) were prepared. Thereafter, thermogravimetric analysis (TG), bench-scale pyrolysis experiment, process simulation, and life cycle assessment (LCA) were conducted. The TG results showed that the activation energies of thermal decomposition of the main organic contents of RS and WS were 44.23 and 58.45 kJ/mol, respectively. Three peak temperatures of 400, 500, and 600 degrees C were used in the bench-scale pyrolysis experiments of WS. The 600 degrees C case yielded the most desirable gas and liquid products. The bench-scale pyrolysis experiment of RS was conducted at 600 degrees C as well. Also, an LCA was conducted based on the simulation result of 600 degrees C pyrolysis of WS. The further process simulation and LCA results show that compare to producing liquid biofuel and syngas, a process designed for electricity production is most favored. It was estimated that treating 1 ton of dry WS can result in a negative cumulative energy demand of -2.98 GJ and carbon emissions of -790.89 kg CO2 equivalence.
|
|
| 9. |
- Yang, Hanmin, 1992-, et al.
(författare)
-
Carbon-negative valorization of biomass waste into affordable green hydrogen and battery anodes
- 2023
-
Ingår i: International journal of hydrogen energy. - : Elsevier BV. - 0360-3199 .- 1879-3487.
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- The global Sustainable Development Goals highlight the necessity for affordable and clean energy, designated as SDG7. A sustainable and feasible biorefinery concept is proposed for the carbon-negative utilization of biomass waste for affordable H2 and battery anode material production. Specifically, an innovative tandem biocarbon + NiAlO + biocarbon catalyst strategy is constructed to realize a complete reforming of biomass pyro-vapors into H2+CO (as a mixture). The solid residues from pyrolysis are upgraded into high-quality hard carbon (HCs), demonstrating potential as sodium ion battery (SIBs) anodes. The product, HC-1600-6h, exhibited great electrochemical performance when employed as (SIBs) anodes (full cell: 263 Wh/kg with ICE of 89%). Ultimately, a comprehensive process is designed, simulated, and evaluated. The process yields 75 kg H2, 169 kg HCs, and 891 kg captured CO2 per ton of biomass achieving approx. 100% carbon and hydrogen utilization efficiencies. A life cycle assessment estimates a biomass valorization process with negative-emissions (−0.81 kg CO2/kg-biomass, reliant on Sweden wind electricity). A techno-economic assessment forecasts a notably profitable process capable of co-producing affordable H2 and hard carbon battery anodes. The payback period of the process is projected to fall within two years, assuming reference prices of 13.7 €/kg for HCs and 5 €/kg for H2. The process contributes to a novel business paradigm for sustainable and commercially viable biorefinery process, achieving carbon-negative valorization of biomass waste into affordable energy and materials.
|
|
