| 1. |
- Faucherre, Samuel, et al.
(författare)
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Short and Long-Term Controls on Active Layer and Permafrost Carbon Turnover Across the Arctic
- 2018
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Ingår i: Journal of Geophysical Research - Biogeosciences. - : American Geophysical Union (AGU). - 2169-8953 .- 2169-8961. ; 123:2, s. 372-390
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Tidskriftsartikel (refereegranskat)abstract
- Decomposition of soil organic matter (SOM) in permafrost terrain and the production of greenhouse gases is a key factor for understanding climate change-carbon feedbacks. Previous studies have shown that SOM decomposition is mostly controlled by soil temperature, soil moisture, and carbon-nitrogen ratio (C:N). However, focus has generally been on site-specific processes and little is known about variations in the controls on SOM decomposition across Arctic sites. For assessing SOM decomposition, we retrieved 241 samples from 101 soil profiles across three contrasting Arctic regions and incubated them in the laboratory under aerobic conditions. We assessed soil carbon losses (Closs) five times during a 1 year incubation. The incubated material consisted of near-surface active layer (ALNS), subsurface active layer (ALSS), peat, and permafrost samples. Samples were analyzed for carbon, nitrogen, water content, δ13C, δ15N, and dry bulk density (DBD). While no significant differences were observed between total ALSS and permafrost Closs over 1 year incubation (2.3 ± 2.4% and 2.5 ± 1.5% Closs, respectively), ALNS samples showed higher Closs (7.9 ± 4.2%). DBD was the best explanatory parameter for active layer Closs across sites. Additionally, results of permafrost samples show that C:N ratio can be used to characterize initial Closs between sites. This data set on the influence of abiotic parameter on microbial SOM decomposition can improve model simulations of Arctic soil CO2 production by providing representative mean values of CO2 production rates and identifying standard parameters or proxies for upscaling potential CO2 production from site to regional scales.
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| 2. |
- Jackson, Victoria E, et al.
(författare)
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Meta-analysis of exome array data identifies six novel genetic loci for lung function.
- 2018
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Ingår i: Wellcome open research. - : F1000 Research Ltd. - 2398-502X. ; 3
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Tidskriftsartikel (refereegranskat)abstract
- Background: Over 90 regions of the genome have been associated with lung function to date, many of which have also been implicated in chronic obstructive pulmonary disease. Methods: We carried out meta-analyses of exome array data and three lung function measures: forced expiratory volume in one second (FEV 1), forced vital capacity (FVC) and the ratio of FEV 1 to FVC (FEV 1/FVC). These analyses by the SpiroMeta and CHARGE consortia included 60,749 individuals of European ancestry from 23 studies, and 7,721 individuals of African Ancestry from 5 studies in the discovery stage, with follow-up in up to 111,556 independent individuals. Results: We identified significant (P<2·8x10 -7) associations with six SNPs: a nonsynonymous variant in RPAP1, which is predicted to be damaging, three intronic SNPs ( SEC24C, CASC17 and UQCC1) and two intergenic SNPs near to LY86 and FGF10. Expression quantitative trait loci analyses found evidence for regulation of gene expression at three signals and implicated several genes, including TYRO3 and PLAU. Conclusions: Further interrogation of these loci could provide greater understanding of the determinants of lung function and pulmonary disease.
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| 3. |
- Kanoni, Stavroula, et al.
(författare)
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Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
- 2022
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Ingår i: Genome biology. - : Springer Science and Business Media LLC. - 1474-760X .- 1465-6906 .- 1474-7596. ; 23:1
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Tidskriftsartikel (refereegranskat)abstract
- Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery.To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N=1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3-5% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism.Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk.
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| 4. |
- Kraja, Aldi T., et al.
(författare)
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New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475000 Individuals
- 2017
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Ingår i: Circulation. - : LIPPINCOTT WILLIAMS & WILKINS. - 1942-325X .- 1942-3268. ; 10:5
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Tidskriftsartikel (refereegranskat)abstract
- Background - Genome-wide association studies have recently identified >400 loci that harbor DNA sequence variants that influence blood pressure (BP). Our earlier studies identified and validated 56 single nucleotide variants (SNVs) associated with BP from meta-analyses of exome chip genotype data. An additional 100 variants yielded suggestive evidence of association.Methods and Results - Here, we augment the sample with 140886 European individuals from the UK Biobank, in whom 77 of the 100 suggestive SNVs were available for association analysis with systolic BP or diastolic BP or pulse pressure. We performed 2 meta-analyses, one in individuals of European, South Asian, African, and Hispanic descent (pan-ancestry, approximate to 475000), and the other in the subset of individuals of European descent (approximate to 423000). Twenty-one SNVs were genome-wide significant (P<5x10(-8) ) for BP, of which 4 are new BP loci: rs9678851 (missense, SLC4A1AP), rs7437940 (AFAP1), rs13303 (missense, STAB1), and rs1055144 (7p15.2). In addition, we identified a potentially independent novel BP-associated SNV, rs3416322 (missense, SYNPO2L) at a known locus, uncorrelated with the previously reported SNVs. Two SNVs are associated with expression levels of nearby genes, and SNVs at 3 loci are associated with other traits. One SNV with a minor allele frequency <0.01, (rs3025380 at DBH) was genome-wide significant.Conclusions - We report 4 novel loci associated with BP regulation, and 1 independent variant at an established BP locus. This analysis highlights several candidate genes with variation that alter protein function or gene expression for potential follow-up.
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| 5. |
- Kuhry, Peter, et al.
(författare)
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Lability classification of soil organic matter in the northern permafrost region
- 2020
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Ingår i: Biogeosciences. - : Copernicus GmbH. - 1726-4170 .- 1726-4189. ; 17:2, s. 361-379
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Tidskriftsartikel (refereegranskat)abstract
- The large stocks of soil organic carbon (SOC) in soils and deposits of the northern permafrost region are sensitive to global warming and permafrost thawing. The potential release of this carbon (C) as greenhouse gases to the atmosphere does not only depend on the total quantity of soil organic matter (SOM) affected by warming and thawing, but it also depends on its lability (i.e., the rate at which it will decay). In this study we develop a simple and robust classification scheme of SOM lability for the main types of soils and deposits in the northern permafrost region. The classification is based on widely available soil geochemical parameters and landscape unit classes, which makes it useful for upscaling to the entire northern permafrost region. We have analyzed the relationship between C content and C-CO2 production rates of soil samples in two different types of laboratory incubation experiments. In one experiment, ca. 240 soil samples from four study areas were incubated using the same protocol (at 5 degrees C, aerobically) over a period of 1 year. Here we present C release rates measured on day 343 of incubation. These long-term results are compared to those obtained from short-term incubations of ca. 1000 samples (at 12 degrees C, aerobically) from an additional three study areas. In these experiments, C-CO2 production rates were measured over the first 4 d of incubation. We have focused our analyses on the relationship between C-CO2 production per gram dry weight per day (mu gC-CO2 gdw(-1) d(-1)) and C content (%C of dry weight) in the samples, but we show that relationships are consistent when using C = N ratios or different production units such as mu gC per gram soil C per day (mu gC-CO2 gC(-1) d(-1)) or per cm(3) of soil per day (mu gC-CO2 cm(-3) d(-1)). C content of the samples is positively correlated to C-CO2 production rates but explains less than 50% of the observed variability when the full datasets are considered. A partitioning of the data into landscape units greatly reduces variance and provides consistent results between incubation experiments. These results indicate that relative SOM lability decreases in the order of Late Holocene eolian deposits to alluvial deposits and mineral soils (including peaty wetlands) to Pleistocene yedoma deposits to C-enriched pockets in cryoturbated soils to peat deposits. Thus, three of the most important SOC storage classes in the northern permafrost region (yedoma, cryoturbated soils and peatlands) show low relative SOM lability. Previous research has suggested that SOM in these pools is relatively undecomposed, and the reasons for the observed low rates of decomposition in our experiments need urgent attention if we want to better constrain the magnitude of the thawing permafrost carbon feedback on global warming.
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| 6. |
- Palmtag, Juri, 1980-, et al.
(författare)
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A high spatial resolution soil carbon and nitrogen dataset for the northern permafrost region based on circumpolar land cover upscaling
- 2022
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Ingår i: Earth System Science Data. - : Copernicus Publications. - 1866-3508 .- 1866-3516. ; 14:9, s. 4095-4110
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Tidskriftsartikel (refereegranskat)abstract
- Soils in the northern high latitudes are a key component in the global carbon cycle; the northern permafrost region covers 22% of the Northern Hemisphere land surface area and holds almost twice as much carbon as the atmosphere. Permafrost soil organic matter stocks represent an enormous long-term carbon sink which is in risk of switching to a net source in the future. Detailed knowledge about the quantity and the mechanisms controlling organic carbon storage is of utmost importance for our understanding of potential impacts of and feedbacks on climate change. Here we present a geospatial dataset of physical and chemical soil properties calculated from 651 soil pedons encompassing more than 6500 samples from 16 different study areas across the northern permafrost region. The aim of our dataset is to provide a basis to describe spatial patterns in soil properties, including quantifying carbon and nitrogen stocks. There is a particular need for spatially distributed datasets of soil properties, including vertical and horizontal distribution patterns, for modeling at local, regional, or global scales. This paper presents this dataset, describes in detail soil sampling; laboratory analysis, and derived soil geochemical parameters; calculations; and data clustering. Moreover, we use this dataset to estimate soil organic carbon and total nitrogen storage estimates in soils in the northern circumpolar permafrost region (17.9 x 106 km2) using the European Space Agency's (ESA's) Climate Change Initiative (CCI) global land cover dataset at 300m pixel resolution. We estimate organic carbon and total nitrogen stocks on a circumpolar scale (excluding Tibet) for the 0-100 and 0-300 cm soil depth to be 380 and 813 Pg for carbon, and 21 and 55 Pg for nitrogen, respectively. Our organic carbon estimates agree with previous studies, with most recent estimates of 1000 Pg (170 to C186 Pg) to 300 cm depth. Two separate datasets are freely available on the Bolin Centre Database repository (https://doi.org/10.17043/palmtag-2022-pedon-1, Palmtag et al., 2022a; and https://doi.org/10.17043/palmtag-2022-spatial-1, Palmtag et al., 2002b).
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| 7. |
- Siewert, Matthias B., et al.
(författare)
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Comparing carbon storage of Siberian tundra and taiga permafrost ecosystems at very high spatial resolution
- 2015
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Ingår i: Journal of Geophysical Research - Biogeosciences. - 2169-8953 .- 2169-8961. ; 120:10, s. 1973-1994
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Tidskriftsartikel (refereegranskat)abstract
- Permafrost-affected ecosystems are important components in the global carbon (C) cycle that, despite being vulnerable to disturbances under climate change, remain poorly understood. This study investigates ecosystem carbon storage in two contrasting continuous permafrost areas of NE and East Siberia. Detailed partitioning of soil organic carbon (SOC) and phytomass carbon (PC) is analyzed for one tundra (Kytalyk) and one taiga (Spasskaya Pad/Neleger) study area. In total, 57 individual field sites (24 and 33 in the respective areas) have been sampled for PC and SOC, including the upper permafrost. Landscape partitioning of ecosystem C storage was derived from thematic upscaling of field observations using a land cover classification from very high resolution (2x2m) satellite imagery. Nonmetric multidimensional scaling was used to explore patterns in C distribution. In both environments the ecosystem C is mostly stored in the soil (86%). At the landscape scale C stocks are primarily controlled by the presence of thermokarst depressions (alases). In the tundra landscape, site-scale variability of C is controlled by periglacial geomorphological features, while in the taiga, local differences in catenary position, soil texture, and forest successions are more important. Very high resolution remote sensing is highly beneficial to the quantification of C storage. Detailed knowledge of ecosystem C storage and ground ice distribution is needed to predict permafrost landscape vulnerability to projected climatic changes. We argue that vegetation dynamics are unlikely to offset mineralization of thawed permafrost C and that landscape-scale reworking of SOC represents the largest potential changes to C cycling.
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| 8. |
- 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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| 9. |
- van de Vegte, Yordi, et al.
(författare)
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Genetic insights into resting heart rate and its role in cardiovascular disease
- 2023
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Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- The genetics and clinical consequences of resting heart rate (RHR) remain incompletely understood. Here, the authors discover new genetic variants associated with RHR and find that higher genetically predicted RHR decreases risk of atrial fibrillation and ischemic stroke. Resting heart rate is associated with cardiovascular diseases and mortality in observational and Mendelian randomization studies. The aims of this study are to extend the number of resting heart rate associated genetic variants and to obtain further insights in resting heart rate biology and its clinical consequences. A genome-wide meta-analysis of 100 studies in up to 835,465 individuals reveals 493 independent genetic variants in 352 loci, including 68 genetic variants outside previously identified resting heart rate associated loci. We prioritize 670 genes and in silico annotations point to their enrichment in cardiomyocytes and provide insights in their ECG signature. Two-sample Mendelian randomization analyses indicate that higher genetically predicted resting heart rate increases risk of dilated cardiomyopathy, but decreases risk of developing atrial fibrillation, ischemic stroke, and cardio-embolic stroke. We do not find evidence for a linear or non-linear genetic association between resting heart rate and all-cause mortality in contrast to our previous Mendelian randomization study. Systematic alteration of key differences between the current and previous Mendelian randomization study indicates that the most likely cause of the discrepancy between these studies arises from false positive findings in previous one-sample MR analyses caused by weak-instrument bias at lower P-value thresholds. The results extend our understanding of resting heart rate biology and give additional insights in its role in cardiovascular disease development.
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| 10. |
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| 11. |
- Weiss, Niels, et al.
(författare)
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Characterization of labile organic matter in Pleistocene permafrost (NE Siberia), using Thermally assisted Hydrolysis and Methylation (THM-GC-MS)
- 2018
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Ingår i: Soil Biology and Biochemistry. - : Elsevier BV. - 0038-0717 .- 1879-3428. ; 117, s. 203-213
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Tidskriftsartikel (refereegranskat)abstract
- Pleistocene yedoma sediments store large amounts of soil organic matter (SOM) and are vulnerable to permafrost degradation. Here we contribute to our understanding of yedoma SOM dynamics and potential response to thaw, by molecular characterization of samples from a 5.7 m yedoma exposure, as well as upper permafrost samples that were previously incubated, using Thermally assisted Hydrolysis and Methylation (THM-GC-MS). In general, the SOM is derived from aliphatic material (including cutin and suberin), phenols (lignin, sphagnum acid), polysaccharides and N-containing components (largely microbial SOM). Soil organic carbon (SOC) content and molecular SOM composition follow a sawtooth pattern where local maxima in SOC coincide with lignin and aliphatic material that experienced only slight degradation, and minima with degraded plant-derived SOM and microbial tissue, representing a stratified cryopedolith. The SOC-depleted top 0.9 m (active layer and transition zone) is enriched in microbial SOM probably due to recent thawing. Comparison with CO2 respiration rates indicates that SOM of microbial origin (low C/N) is more labile than aliphatic SOM from well-preserved plant tissue (high C/N). However, we argue that the more stable aliphatic SOM in SOC-rich layers might also be vulnerable to decay, which could, due to its abundance in SOC-rich layers, dominate overall Yedoma C losses due to thermal erosion.
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| 12. |
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| 13. |
- Weiss, Niels, et al.
(författare)
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Elevation-based upscaling of organic carbon stocks in High-Arctic permafrost terrain : a storage and distribution assessment for Spitsbergen, Svalbard
- 2017
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Ingår i: Polar Research. - : Norwegian Polar Institute. - 0800-0395 .- 1751-8369. ; 36
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Tidskriftsartikel (refereegranskat)abstract
- Accurate quantity and distribution estimates of permafrost soil organic carbon (SOC) stocks are needed to project potential feedbacks to climate, following warming. Still, upscaling from local field observations to regional estimates to circumarctic assessments remains a challenge. Here we explore elevation-based upscaling techniques for High-Arctic permafrost SOC stocks. We combine two detailed, high-resolution SOC inventories on Spitsbergen (Svalbard) with regional validation data. We find a clear relationship between elevation and SOC content, and use this observed exponential correlation, as well as discrete elevation classes, as upscaling models for Spitsbergen. We estimate the total amount of permafrost SOC currently present in soils on Spitsbergen to be 105.36 Tg (0.11 Pg), with a mean SOC content of 2.84 +/- 0.74 kg C m(-2) (mean +/- 95% confidence interval). Excluding glaciers and permanent snowfields, exposed land is currently estimated to contain 6.26 +/- 1.47 kg C m(-2).
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| 14. |
- Weiss, Niels, 1984-
(författare)
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Permafrost carbon in a changing Arctic : On periglacial landscape dynamics, organic matter characteristics, and the stability of a globally significant carbon pool
- 2017
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Organic matter (OM) in arctic permafrost ground contains about twice as much carbon (C) as is currently present in the atmosphere. Climate change is particularly strong in the Arctic, and could cause a considerable part of the OM in permafrost to thaw out, decompose, and be released as greenhouse gases; further enhancing global warming. The exact size of the northern circumpolar C pool remains unclear, and processes that control decomposition and mineralization rates are even more uncertain. Superimposed on the long-term release of C through microbial decomposition of OM in the gradually deepening active layer, is the rapid release of currently sequestered OM through geomorphological processes. This thesis considers the quantity, quality, and availability of permafrost C, and explores interactions and common controls.To better understand the potential effects of thawing permafrost, it is vital to: i) obtain more accurate size and distribution estimates of permafrost C stocks, and develop methods to accurately and efficiently implement these in models, ii) identify OM characteristics that control decomposition, specifically for permafrost material, and iii) determine and quantify key geomorphological processes that cause large amounts of OM to become available for rapid decomposition.Detailed C quantifications are valuable to increase our fundamental understanding of permafrost soil processes and C sequestration, but including high levels of heterogeneity in models is challenging. Simple upscaling tools based on e.g. elevation parameters (Paper I) can help to bridge the gap between detailed field studies and global C models.Permafrost OM quality is controlled by different factors than those commonly observed in temperate soils (without permafrost). We observed an unexpected (significant) correlation in upper permafrost samples, where material that is generally considered more recalcitrant showed the highest CO2 production rates per g C, indicating high lability (Paper II). In ancient Pleistocene permafrost, labile samples related significantly to OM that was enriched in decomposed microbial remains, whereas less-decomposed plant material was more stable (Paper III). Investigation of multiple incubation datasets revealed that the unusual relationship between %C and CO2 production occurred in contrasting field sites throughout the Arctic, indicating important permafrost-specific controls over OM quality (Paper IV). We discuss several possible explanations for the observed high lability of permafrost OM, such as a pool of labile dissolved organic C in the upper permafrost, or increased lability caused by past decomposition. In order to conclusively identify causal relationships, and to answer the question whether or not the same mechanisms control OM quality in different environments, further investigation of permafrost-specific OM quality is required.Geomorphology plays a key role in C reworking and OM decomposition. Vast amounts of OM can be released abruptly (e.g. in thaw slumps and thermokarst lakes, Paper II), resulting in C turnover that will likely outweigh decomposition through gradual active layer deepening. Climate change could enhance this rapid release of C, and changes in surface hydrology and increased fire activity are expected to become the largest contributors to C loss from permafrost regions. Together with C quantity and quality, availability through gradual and abrupt processes must be parameterized and included in models in order to accurately assess the potential permafrost C climate feedback.
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| 15. |
- Weiss, Niels, et al.
(författare)
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Thermokarst dynamics and soil organic matter characteristics controlling initial carbon release from permafrost soils in the Siberian Yedoma region
- 2016
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Ingår i: Sedimentary Geology. - : Elsevier BV. - 0037-0738 .- 1879-0968. ; 340, s. 38-48
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Tidskriftsartikel (refereegranskat)abstract
- This study relates soil organic matter (SOM) characteristics to initial soil incubation carbon release from upper permafrost samples in Yedoma region soils of northeastern Siberia, Russia. Carbon (C) and nitrogen (N) content, carbon to nitrogen ratios (C:N), delta C-13 and delta N-15 values show clear trends that correspond with SOM age and degree of decomposition. Incubation results indicate that older and more decomposed soil material shows higher C respiration rates per unit incubated C than younger and less decomposed samples with higher C content. This is important as undecomposed material is often assumed to be more reactive upon thawing. Large stocks of SOM and their potential decomposability, in combination with complex landscape dynamics that include one or more events of Holocene thaw in most of the landscape, are of consequence for potential greenhouse gas release from permafrost soils in the Yedoma region.
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| 16. |
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| 17. |
- Wojcik, Robin, et al.
(författare)
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Land cover and landform-based upscaling of soil organic carbon stocks on the Brogger Peninsula, Svalbard
- 2019
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Ingår i: Arctic, Antarctic and Alpine research. - : Informa UK Limited. - 1523-0430 .- 1938-4246. ; 51:1, s. 40-57
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Tidskriftsartikel (refereegranskat)abstract
- In this study we assess the total storage, landscape distribution, and vertical partitioning of soil organic carbon (SOC) stocks on the Brogger Peninsula, Svalbard. This type of high Arctic area is underrepresented in SOC databases for the northern permafrost region. Physico-chemical, elemental, and radiocarbon (C-14) dating analyses were carried out on thirty-two soil profiles. Results were upscaled using both a land cover classification (LCC) and a landform classification (LFC). Both LCC and LFC approaches provide weighted mean SOC 0-100 cm estimates for the study area of 1.0 +/- 0.3 kg C m(-2) (95% confidence interval) and indicate that about 68 percent of the total SOC storage occurs in the upper 30 cm of the soil, and about 10 percent occurs in the surface organic layer. Furthermore, LCC and LFC upscaling approaches provide similar spatial SOC allocation estimates and emphasize the dominant role of vegetated area (4.2 +/- 1.6 kg C m(-2)) and solifluction slopes (6.7 +/- 3.6 kg C m(-2)) in SOC 0-100 cm storage. LCC and LFC approaches report different and complementary information on the dominant processes controlling the spatial and vertical distribution of SOC in the landscape. There is no evidence for any significant SOC storage in the permafrost layer. We hypothesize, therefore, that the Brogger Peninsula and similar areas of the high Arctic will become net carbon sinks, providing negative feedback on global warming in the future. The surface area that will have vegetation cover and incipient soil development will expand, whereas only small amounts of organic matter will experience increased decomposition due to active-layer deepening.
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| 18. |
- Young, William J., et al.
(författare)
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Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways
- 2022
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Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 13
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Tidskriftsartikel (refereegranskat)abstract
- The QT interval is a heritable electrocardiographic measure associated with arrhythmia risk when prolonged. Here, the authors used a series of genetic analyses to identify genetic loci, pathways, therapeutic targets, and relationships with cardiovascular disease. The QT interval is an electrocardiographic measure representing the sum of ventricular depolarization and repolarization, estimated by QRS duration and JT interval, respectively. QT interval abnormalities are associated with potentially fatal ventricular arrhythmia. Using genome-wide multi-ancestry analyses (>250,000 individuals) we identify 177, 156 and 121 independent loci for QT, JT and QRS, respectively, including a male-specific X-chromosome locus. Using gene-based rare-variant methods, we identify associations with Mendelian disease genes. Enrichments are observed in established pathways for QT and JT, and previously unreported genes indicated in insulin-receptor signalling and cardiac energy metabolism. In contrast for QRS, connective tissue components and processes for cell growth and extracellular matrix interactions are significantly enriched. We demonstrate polygenic risk score associations with atrial fibrillation, conduction disease and sudden cardiac death. Prioritization of druggable genes highlight potential therapeutic targets for arrhythmia. Together, these results substantially advance our understanding of the genetic architecture of ventricular depolarization and repolarization.
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