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Träfflista för sökning "WFRF:(Harris Anette) "

Sökning: WFRF:(Harris Anette)

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1.
  • Turcot, Valerie, et al. (författare)
  • Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
  • 2018
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 50:1, s. 26-41
  • 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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2.
  • Marouli, Eirini, et al. (författare)
  • Rare and low-frequency coding variants alter human adult height
  • 2017
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 542:7640, s. 186-190
  • Tidskriftsartikel (refereegranskat)abstract
    • Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.
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3.
  • Bertrand, Philip, et al. (författare)
  • Feeding at the front line : interannual variation in the use of glacier fronts by foraging black-legged kittiwakes
  • 2021
  • Ingår i: Marine Ecology Progress Series. - : Inter-Research Science Center. - 0171-8630 .- 1616-1599. ; 677, s. 197-208
  • Tidskriftsartikel (refereegranskat)abstract
    • Tidewater glacier fronts can represent important foraging areas for Arctic predators. Their ecological importance is likely to change in a warmer Arctic. Their profitability and use by consumers are expected to vary in time, but the underlying mechanisms driving such variation remain poorly known. The subglacial plume, originating from meltwater discharge, is responsible for the entrainment and transport of zooplankton to the surface, making them more readily available for surface-feeding seabirds. Both discharge and zooplankton abundance are known to fluctuate in time and are thus expected to modulate the foraging profitability of glacier fronts. This study tested the predictions that annual use of glacier fronts by black-legged kittiwakes Rissa tridactyla is positively related to the average glacier discharge and prey biomass in the fjord. To do this, we combined a multiyear dataset of environmental drivers and GPS tracks of birds in Kongsfjorden, Svalbard. Our results confirmed the interannual variation in the use of glacier fronts by kittiwakes; however, contrary to our predictions, these variations were negatively correlated to both glacier discharge and zooplankton abundance. These apparent negative relationships likely reflect non-linear effects and complex interactions between local and regional environmental factors that affect the relative profitability of glacier fronts as foraging areas. Despite their high spatial predictability, glacier fronts may not offer consistent foraging opportunities for marine predators over time.
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4.
  • Heid, Iris M, et al. (författare)
  • Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
  • 2010
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 949-960
  • Tidskriftsartikel (refereegranskat)abstract
    • Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a meta-analysis of 32 genome-wide association studies for WHR adjusted for body mass index (comprising up to 77,167 participants), following up 16 loci in an additional 29 studies (comprising up to 113,636 subjects). We identified 13 new loci in or near RSPO3, VEGFA, TBX15-WARS2, NFE2L3, GRB14, DNM3-PIGC, ITPR2-SSPN, LY86, HOXC13, ADAMTS9, ZNRF3-KREMEN1, NISCH-STAB1 and CPEB4 (P = 1.9 × 10⁻⁹ to P = 1.8 × 10⁻⁴⁰) and the known signal at LYPLAL1. Seven of these loci exhibited marked sexual dimorphism, all with a stronger effect on WHR in women than men (P for sex difference = 1.9 × 10⁻³ to P = 1.2 × 10⁻¹³). These findings provide evidence for multiple loci that modulate body fat distribution independent of overall adiposity and reveal strong gene-by-sex interactions.
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5.
  • Kristenson, Margareta, et al. (författare)
  • The role of saliva cortisol measurements in health and disease : A matter of theory and methodology
  • 2010
  • Ingår i: International Journal of Behavioral Medicine. - : Springer. - 1070-5503 .- 1532-7558. ; , s. S206-S206
  • Konferensbidrag (refereegranskat)abstract
    • Over the last decade, the technique of using ambulatory salivary sampling has become increasingly popular in field research and clinical studies. The non-invasive method is easy to administer and analyze and allows implmentation in large scale study designs. However, this large interest in the use of salivary cortisol measurement is paralleled with frustrations on opposing results. This presentation is based on a critical evaluation of the existing literature on salivary cortisol, aiming to evaluate the utility of salivary cortisol as a biomarker in various settings  and how we can understand cortisol reactivity using evidence of experiences from different study designs. The work is compiled by the Scandinavian Stress and Cortisol Network, a network financed by the Swedish Research Council, and one main question asked was: is it possible that different results of studies involving cortisol assessments are functions of differences in the theoretical assumptions made and methods used. In particular, the symposium will focus on how the many different ways of evaluating levels and dynamics of salivary cortisol (i. e. with regard to time points of assessment and different algorithms based on multiple time points) may have an impact on the interpretation of cortisol measurements in various contexts. Salivary cortisol has been studied in relation to the following topics: demographic variables, psychosocial work environment, psychosocial resources (e.g. mastery) and outcomes (e.g. burnout), sleep quality, biological markers (markers of cardivascular risk, inflammation and metabolism) and somatic outcome.
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7.
  • Mahajan, Anubha, et al. (författare)
  • Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes
  • 2018
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 50:4, s. 559-571
  • Tidskriftsartikel (refereegranskat)abstract
    • We aggregated coding variant data for 81,412 type 2 diabetes cases and 370,832 controls of diverse ancestry, identifying 40 coding variant association signals (P < 2.2 × 10−7); of these, 16 map outside known risk-associated loci. We make two important observations. First, only five of these signals are driven by low-frequency variants: even for these, effect sizes are modest (odds ratio ≤1.29). Second, when we used large-scale genome-wide association data to fine-map the associated variants in their regional context, accounting for the global enrichment of complex trait associations in coding sequence, compelling evidence for coding variant causality was obtained for only 16 signals. At 13 others, the associated coding variants clearly represent ‘false leads’ with potential to generate erroneous mechanistic inference. Coding variant associations offer a direct route to biological insight for complex diseases and identification of validated therapeutic targets; however, appropriate mechanistic inference requires careful specification of their causal contribution to disease predisposition.
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8.
  • Speliotes, Elizabeth K., et al. (författare)
  • Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
  • 2010
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 937-948
  • Tidskriftsartikel (refereegranskat)abstract
    • Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and ~2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 additional individuals. We confirmed 14 known obesity susceptibility loci and identified 18 new loci associated with body mass index (P < 5 × 10−8), one of which includes a copy number variant near GPRC5B. Some loci (at MC4R, POMC, SH2B1 and BDNF) map near key hypothalamic regulators of energy balance, and one of these loci is near GIPR, an incretin receptor. Furthermore, genes in other newly associated loci may provide new insights into human body weight regulation.
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9.
  • Surendran, Praveen, et al. (författare)
  • Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension
  • 2016
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 48:10, s. 1151-1161
  • Tidskriftsartikel (refereegranskat)abstract
    • High blood pressure is a major risk factor for cardiovascular disease and premature death. However, there is limited knowledge on specific causal genes and pathways. To better understand the genetics of blood pressure, we genotyped 242,296 rare, low-frequency and common genetic variants in up to 192,763 individuals and used -1/4155,063 samples for independent replication. We identified 30 new blood pressure- or hypertension-associated genetic regions in the general population, including 3 rare missense variants in RBM47, COL21A1 and RRAS with larger effects (>1.5 mm Hg/allele) than common variants. Multiple rare nonsense and missense variant associations were found in A2ML1, and a low-frequency nonsense variant in ENPEP was identified. Our data extend the spectrum of allelic variation underlying blood pressure traits and hypertension, provide new insights into the pathophysiology of hypertension and indicate new targets for clinical intervention.
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10.
  • Vedaa, Øystein, et al. (författare)
  • Systematic review of the relationship between quick returns in rotating shift work and health-related outcomes
  • 2016
  • Ingår i: Ergonomics. - : Informa UK Limited. - 0014-0139 .- 1366-5847. ; 59:1, s. 1-14
  • Forskningsöversikt (refereegranskat)abstract
    • A systematic literature search was carried out to investigate the relationship between quick returns (i.e. 11.0 hours or less between two consecutive shifts) and outcome measures of health, sleep, functional ability and work-life balance. A total of 22 studies published in 21 articles were included. Three types of quick returns were differentiated (from evening to morning/day, night to evening, morning/day to night shifts) where sleep duration and sleepiness appeared to be differently affected depending on which shifts the quick returns occurred between. There were some indications of detrimental effects of quick returns on proximate problems (e.g. sleep, sleepiness and fatigue), although the evidence of associations with more chronic outcome measures (physical and mental health and work-life balance) was inconclusive. Practitioner Summary: Modern societies are dependent on people working shifts. This study systematically reviews literature on the consequences of quick returns (11.0 hours or less between two shifts). Quick returns have detrimental effects on acute health problems. However, the evidence regarding effects on chronic health is inconclusive.
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