| 1. |
- Mahajan, Anubha, et al.
(författare)
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Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
- 2018
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Ingår i: Nature Genetics. - : NATURE PUBLISHING GROUP. - 1061-4036 .- 1546-1718. ; 50:11, s. 1505-
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Tidskriftsartikel (refereegranskat)abstract
- We expanded GWAS discovery for type 2 diabetes (T2D) by combining data from 898,130 European-descent individuals (9% cases), after imputation to high-density reference panels. With these data, we (i) extend the inventory of T2D-risk variants (243 loci,135 newly implicated in T2D predisposition, comprising 403 distinct association signals); (ii) enrich discovery of lower-frequency risk alleles (80 index variants with minor allele frequency <5%,14 with estimated allelic odds ratio >2); (iii) substantially improve fine-mapping of causal variants (at 51 signals, one variant accounted for >80% posterior probability of association (PPA)); (iv) extend fine-mapping through integration of tissue-specific epigenomic information (islet regulatory annotations extend the number of variants with PPA >80% to 73); (v) highlight validated therapeutic targets (18 genes with associations attributable to coding variants); and (vi) demonstrate enhanced potential for clinical translation (genome-wide chip heritability explains 18% of T2D risk; individuals in the extremes of a T2D polygenic risk score differ more than ninefold in prevalence).
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| 2. |
- Carvalhais, Nuno, et al.
(författare)
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Global covariation of carbon turnover times with climate in terrestrial ecosystems
- 2014
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 514:7521, s. 213-
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Tidskriftsartikel (refereegranskat)abstract
- The response of the terrestrial carbon cycle to climate change is among the largest uncertainties affecting future climate change projections(1,2). The feedback between the terrestrial carbon cycle and climate is partly determined by changes in the turnover time of carbon in land ecosystems, which in turn is an ecosystem property that emerges from the interplay between climate, soil and vegetation type(3-6). Here we present a global, spatially explicit and observation-based assessment of whole-ecosystem carbon turnover times that combines new estimates of vegetation and soil organic carbon stocks and fluxes. We find that the overall mean global carbon turnover time is 23(4)(+7) years (95 per cent confidence interval). Onaverage, carbon resides in the vegetation and soil near the Equator for a shorter time than at latitudes north of 75 degrees north (mean turnover times of 15 and 255 years, respectively). We identify a clear dependence of the turnover time on temperature, as expected from our present understanding of temperature controls on ecosystem dynamics. Surprisingly, our analysis also reveals a similarly strong association between turnover time and precipitation. Moreover, we find that the ecosystem carbon turnover times simulated by state-of-the-art coupled climate/carbon-cycle models vary widely and that numerical simulations, on average, tend to underestimate the global carbon turnover time by 36 per cent. The models show stronger spatial relationships with temperature than do observation-based estimates, but generally do not reproduce the strong relationships with precipitation and predict faster carbon turnover in many semiarid regions. Our findings suggest that future climate/carbon-cycle feedbacks may depend more strongly on changes in the hydrological cycle than is expected at present and is considered in Earth system models.
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| 3. |
- Thurner, Martin, et al.
(författare)
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Large-scale variation in boreal and temperate forest carbon turnover rate related to climate
- 2016
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Ingår i: Geophysical Research Letters. - 0094-8276 .- 1944-8007. ; 43:9, s. 4576-4585
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Tidskriftsartikel (refereegranskat)abstract
- Vegetation carbon turnover processes in forest ecosystems and their dominant drivers are far from being understood at a broader scale. Many of these turnover processes act on long timescales and include a lateral dimension and thus can hardly be investigated by plot-level studies alone. Making use of remote sensing-based products of net primary production (NPP) and biomass, here we show that spatial gradients of carbon turnover rate (k) in Northern Hemisphere boreal and temperate forests are explained by different climate-related processes depending on the ecosystem. k is related to frost damage effects and the trade-off between growth and frost adaptation in boreal forests, while drought stress and climate effects on insects and pathogens can explain an elevated k in temperate forests. By identifying relevant processes underlying broadscale patterns in k, we provide the basis for a detailed exploration of these mechanisms in field studies, and ultimately the improvement of their representations in global vegetation models (GVMs).
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