49 research outputs found

    More than just trees: Assessing reforestation success in tropical developing countries

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    Rural communities in many parts of the tropics are dependent of forests for their livelihoods and for environmental services. Forest resources in the tropics have declined rapidly over the past century and therefore many developing countries in the tropics have reforestation programs. Although reforestation is a long-term process with long-term benefits, existing evaluations of the success of these programs tends to focus on short-term establishment success indicators. This paper presents a review of reforestation assessment that highlights the need to not only consider short-term establishment success, but also longer-term growth and maturation success, environmental success and socio-economic success. In addition, we argue that reforestation assessment should not be based on success indicators alone, but should incorporate the drivers of success, which encompasses an array of biophysical, socio-economic, institutional and project characteristics. This is needed in order to understand the reasons why reforestation projects succeed or fail and therefore to design more successful projects in future. The paper presents a conceptual model for reforestation success assessment that links key groups of success indicators and drivers. This conceptual model provides the basis for a more comprehensive evaluation of reforestation success and the basis for the development of predictive systems-based assessment models. These models will be needed to better guide reforestation project planning and policy design and therefore assist rural communities in tropical developing countries to alleviate poverty and achieve a better quality of life

    A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis

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    Bell et al. report 46 new loci associated with biomarkers of iron homeostasis, including ferritin levels, iron binding capacity, and iron saturation, in the Icelandic, Danish and UK populations. The associated loci point to new iron-regulating proteins and important genetic differences between men and women

    A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis

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    Abstract: Iron is essential for many biological functions and iron deficiency and overload have major health implications. We performed a meta-analysis of three genome-wide association studies from Iceland, the UK and Denmark of blood levels of ferritin (N = 246,139), total iron binding capacity (N = 135,430), iron (N = 163,511) and transferrin saturation (N = 131,471). We found 62 independent sequence variants associating with iron homeostasis parameters at 56 loci, including 46 novel loci. Variants at DUOX2, F5, SLC11A2 and TMPRSS6 associate with iron deficiency anemia, while variants at TF, HFE, TFR2 and TMPRSS6 associate with iron overload. A HBS1L-MYB intergenic region variant associates both with increased risk of iron overload and reduced risk of iron deficiency anemia. The DUOX2 missense variant is present in 14% of the population, associates with all iron homeostasis biomarkers, and increases the risk of iron deficiency anemia by 29%. The associations implicate proteins contributing to the main physiological processes involved in iron homeostasis: iron sensing and storage, inflammation, absorption of iron from the gut, iron recycling, erythropoiesis and bleeding/menstruation

    Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura

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    Publisher Copyright: © 2023, The Author(s).Migraine is a complex neurovascular disease with a range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European populations to study the main migraine subtypes, migraine with aura (MA) and migraine without aura (MO). We identified four new MA-associated variants (in PRRT2, PALMD, ABO and LRRK2) and classified 13 MO-associated variants. Rare variants with large effects highlight three genes. A rare frameshift variant in brain-expressed PRRT2 confers large risk of MA and epilepsy, but not MO. A burden test of rare loss-of-function variants in SCN11A, encoding a neuron-expressed sodium channel with a key role in pain sensation, shows strong protection against migraine. Finally, a rare variant with cis-regulatory effects on KCNK5 confers large protection against migraine and brain aneurysms. Our findings offer new insights with therapeutic potential into the complex biology of migraine and its subtypes.Peer reviewe

    Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

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    Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts
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