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- de Jong, S, et al.
(författare)
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Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder
- 2018
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Ingår i: Communications biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 1, s. 163-
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Tidskriftsartikel (refereegranskat)abstract
- Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n ~ 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generations. This may explain the observation of anticipation in mood disorders, whereby onset is earlier and the severity increases over the generations of a family. Joint analyses of rare and common variation may be a powerful way to understand the familial genetics of psychiatric disorders.
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- Turcot, Valerie, et al.
(författare)
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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
- 2018
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 50:1, s. 26-41
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are similar to 10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed similar to 7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.
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| 6. |
- Masnadi, Mohammad S., et al.
(författare)
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Global carbon intensity of crude oil production
- 2018
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 361:6405, s. 851-853
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Tidskriftsartikel (refereegranskat)abstract
- Producing, transporting, and refining crude oil into fuels such as gasoline and diesel accounts for ∼15 to 40% of the “well-to-wheels” life-cycle greenhouse gas (GHG) emissions of transport fuels (1). Reducing emissions from petroleum production is of particular importance, as current transport fleets are almost entirely dependent on liquid petroleum products, and many uses of petroleum have limited prospects for near-term substitution (e.g., air travel). Better understanding of crude oil GHG emissions can help to quantify the benefits of alternative fuels and identify the most cost-effective opportunities for oil-sector emissions reductions (2). Yet, while regulations are beginning to address petroleum sector GHG emissions (3–5), and private investors are beginning to consider climate-related risk in oil investments (6), such efforts have generally struggled with methodological and data challenges. First, no single method exists for measuring the carbon intensity (CI) of oils. Second, there is a lack of comprehensive geographically rich datasets that would allow evaluation and monitoring of life-cycle emissions from oils. We have previously worked to address the first challenge by developing open-source oil-sector CI modeling tools [OPGEE (7, 8), supplementary materials (SM) 1.1]. Here, we address the second challenge by using these tools to model well-to-refinery CI of all major active oil fields globally—and to identify major drivers of these emissions.
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- Osman, Magda, et al.
(författare)
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The problems of increasing transparency on uncertainty
- 2018
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Ingår i: Public Understanding of Science. - : Sage Publications. - 0963-6625 .- 1361-6609. ; 27:2, s. 131-138
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Tidskriftsartikel (refereegranskat)abstract
- Public regulators (such as European Food Safety Authority, European Medicines Agency, and European Centre for Disease Prevention and Control) are placing increasing demands on scientists to make uncertainties about their evidence transparent to the public. The stated goal is utilitarian, to inform and empower the public and ensure the accountability of policy and decision-making around the use of scientific evidence. However, it is questionable what constitutes uncertainty around the evidence on any given topic, and, while the goal is laudable, we argue the drive to increase transparency on uncertainty of the scientific process specifically does more harm than good, and may not serve the interests of those intended. While highlighting some of the practical implications of making uncertainties transparent using current guidelines, the aim is to discuss what could be done to make it worthwhile for both public and scientists.
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