| 1. |
- Surendran, Praveen, et al.
(författare)
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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
- 2020
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 52:12, s. 1314-1332
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Tidskriftsartikel (refereegranskat)abstract
- Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to similar to 1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele frequency <= 0.01) variant BP associations (P < 5 x 10(-8)), of which 32 were in new BP-associated loci and 55 were independent BP-associated single-nucleotide variants within known BP-associated regions. Average effects of rare variants (44% coding) were similar to 8 times larger than common variant effects and indicate potential candidate causal genes at new and known loci (for example, GATA5 and PLCB3). BP-associated variants (including rare and common) were enriched in regions of active chromatin in fetal tissues, potentially linking fetal development with BP regulation in later life. Multivariable Mendelian randomization suggested possible inverse effects of elevated systolic and diastolic BP on large artery stroke. Our study demonstrates the utility of rare-variant analyses for identifying candidate genes and the results highlight potential therapeutic targets.
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| 2. |
- Beal, Jacob, et al.
(författare)
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Robust estimation of bacterial cell count from optical density
- 2020
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Ingår i: Communications Biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 3:1
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Tidskriftsartikel (refereegranskat)abstract
- Optical density (OD) is widely used to estimate the density of cells in liquid culture, but cannot be compared between instruments without a standardized calibration protocol and is challenging to relate to actual cell count. We address this with an interlaboratory study comparing three simple, low-cost, and highly accessible OD calibration protocols across 244 laboratories, applied to eight strains of constitutive GFP-expressing E. coli. Based on our results, we recommend calibrating OD to estimated cell count using serial dilution of silica microspheres, which produces highly precise calibration (95.5% of residuals <1.2-fold), is easily assessed for quality control, also assesses instrument effective linear range, and can be combined with fluorescence calibration to obtain units of Molecules of Equivalent Fluorescein (MEFL) per cell, allowing direct comparison and data fusion with flow cytometry measurements: in our study, fluorescence per cell measurements showed only a 1.07-fold mean difference between plate reader and flow cytometry data.
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| 3. |
- Alder-Rangel, Alene, et al.
(författare)
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The Third International Symposium on Fungal Stress – ISFUS
- 2020
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Ingår i: Fungal Biology. - : Elsevier BV. - 1878-6146. ; 124:5, s. 235-252
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Tidskriftsartikel (refereegranskat)abstract
- Stress is a normal part of life for fungi, which can survive in environments considered inhospitable or hostile for other organisms. Due to the ability of fungi to respond to, survive in, and transform the environment, even under severe stresses, many researchers are exploring the mechanisms that enable fungi to adapt to stress. The International Symposium on Fungal Stress (ISFUS) brings together leading scientists from around the world who research fungal stress. This article discusses presentations given at the third ISFUS, held in São José dos Campos, São Paulo, Brazil in 2019, thereby summarizing the state-of-the-art knowledge on fungal stress, a field that includes microbiology, agriculture, ecology, biotechnology, medicine, and astrobiology.
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| 7. |
- Li, Chen, et al.
(författare)
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Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length
- 2020
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Ingår i: American Journal of Human Genetics. - : CELL PRESS. - 0002-9297 .- 1537-6605. ; 106:3, s. 389-404
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Tidskriftsartikel (refereegranskat)abstract
- Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including up to 78,592 individuals. We identify 49 genomic regions at a false dicovery rate (FDR) < 0.05 threshold and prioritize genes at 31, with five highlighting nucleotide metabolism as an important regulator of LTL. We report six genome-wide significant loci in or near SENP7, MOB1B, CARMIL1 , PRRC2A, TERF2, and RFWD3, and our results support recently identified PARP1, POT1, ATM, and MPHOSPH6 loci. Phenome-wide analyses in >350,000 UK Biobank participants suggest that genetically shorter telomere length increases the risk of hypothyroidism and decreases the risk of thyroid cancer, lymphoma, and a range of proliferative conditions. Our results replicate previously reported associations with increased risk of coronary artery disease and lower risk for multiple cancer types. Our findings substantially expand current knowledge on genes that regulate LTL and their impact on human health and disease.
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| 8. |
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| 9. |
- Peel, John Stuart, et al.
(författare)
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Unusual preservation of an Ordovician (Floian) arthropod from Peary Land, North Greenland (Laurentia)
- 2020
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Ingår i: Palaeontologische Zeitschrift. - : Springer Science and Business Media LLC. - 0031-0220 .- 1867-6812. ; 94:1, s. 41-51
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Tidskriftsartikel (refereegranskat)abstract
- Preservation of a fragment of an arthropod from starved trough sediments of the Bøggild Fjord Formation (Ordovician, Floian) of Johannes V. Jensen Land in north Peary Land, North Greenland, recalls that of the lower Cambrian Sirius Passet Lagerstätte of extreme north-west Peary Land and may suggest a second locality for exceptional preservation in North Greenland. A prominent petaloid pattern on the tergopleurae reflects impression onto the internal mould of terrace lines from the cuticle exterior. The arthropod is associated with poorly preserved sponges and a depauperate assemblage of organic-walled microfossils. It is tentatively compared to Mollisonia, originally described from the Burgess Shale Lagerstätte (middle Cambrian, Miaolingian Series) of Canada.
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| 10. |
- Pfeiffer, Andreas F. H., et al.
(författare)
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The Effects of Different Quantities and Qualities of Protein Intake in People with Diabetes Mellitus
- 2020
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Ingår i: Nutrients. - : MDPI AG. - 2072-6643. ; 12:2
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Tidskriftsartikel (refereegranskat)abstract
- The recommended amount and quality of protein in diets of diabetic patients are highly controversial. In order to provide evidence-based information, the Diabetes Nutrition Study Group (DNSG) used a grading procedure used for quality of evidence and strength of recommendations (GRADE). A protein intake of 10% to 20% of energy intake (E%) or about 0.8 to 1.3 g/kg body weight in people below 65 years of age, and 15% to 20% of E% in people above 65 years of age appeared safe in weight-stable conditions. There were no intervention studies addressing metabolic effects, mortality, or cardiovascular events over prolonged periods. Body weight is closely linked to metabolic control and high protein diets are often recommended. Weight-loss diets that include 23% to 32% of E% as protein for up to one year reduced blood pressure and body weight slightly but significantly more than lower protein diets, whereas blood lipids, fasting blood glucose, and HbA1c improved similarly with higher or lower protein intakes in participants with a glomerular filtration rate (GFR) >60 mL/min/1.73 m(2). Patients with a GFR <60 mL/min/1.73 m(2) did not show a faster decline of GFR or kidney function with protein intakes around 0.8 g/kg body weight as compared with lower intakes, thereby arguing against a restriction. The effects of protein intake on diabetic eye or nerve disease have not been reported. There are a number of studies that have compared different types of animal proteins (milk, chicken, beef, pork, and fish) or compared animal with plant protein in diabetic patients and have reported a greater reduction of serum cholesterol with plant protein. In summary, the suggested range of protein intake appears to be safe and can be adapted according to personal dietary preferences.
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