| 1. |
- Niemi, MEK, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 2. |
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| 3. |
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| 4. |
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| 5. |
- Palmer, Nicholette D, et al.
(författare)
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A genome-wide association search for type 2 diabetes genes in African Americans.
- 2012
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Ingår i: PloS one. - San Francisco : Public Library of Science (PLoS). - 1932-6203. ; 7:1, s. e29202-
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Tidskriftsartikel (refereegranskat)abstract
- African Americans are disproportionately affected by type 2 diabetes (T2DM) yet few studies have examined T2DM using genome-wide association approaches in this ethnicity. The aim of this study was to identify genes associated with T2DM in the African American population. We performed a Genome Wide Association Study (GWAS) using the Affymetrix 6.0 array in 965 African-American cases with T2DM and end-stage renal disease (T2DM-ESRD) and 1029 population-based controls. The most significant SNPs (n = 550 independent loci) were genotyped in a replication cohort and 122 SNPs (n = 98 independent loci) were further tested through genotyping three additional validation cohorts followed by meta-analysis in all five cohorts totaling 3,132 cases and 3,317 controls. Twelve SNPs had evidence of association in the GWAS (P<0.0071), were directionally consistent in the Replication cohort and were associated with T2DM in subjects without nephropathy (P<0.05). Meta-analysis in all cases and controls revealed a single SNP reaching genome-wide significance (P<2.5×10(-8)). SNP rs7560163 (P = 7.0×10(-9), OR (95% CI) = 0.75 (0.67-0.84)) is located intergenically between RND3 and RBM43. Four additional loci (rs7542900, rs4659485, rs2722769 and rs7107217) were associated with T2DM (P<0.05) and reached more nominal levels of significance (P<2.5×10(-5)) in the overall analysis and may represent novel loci that contribute to T2DM. We have identified novel T2DM-susceptibility variants in the African-American population. Notably, T2DM risk was associated with the major allele and implies an interesting genetic architecture in this population. These results suggest that multiple loci underlie T2DM susceptibility in the African-American population and that these loci are distinct from those identified in other ethnic populations.
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| 8. |
- Artigas Soler, María, et al.
(författare)
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Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
- 2011
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 43:11, s. 1082-90
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Tidskriftsartikel (refereegranskat)abstract
- Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European ancestry with follow up of the top associations in up to an additional 46,411 individuals. We identified new regions showing association (combined P < 5 × 10(-8)) with pulmonary function in or near MFAP2, TGFB2, HDAC4, RARB, MECOM (also known as EVI1), SPATA9, ARMC2, NCR3, ZKSCAN3, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1 and KCNE2. Identification of these 16 new loci may provide insight into the molecular mechanisms regulating pulmonary function and into molecular targets for future therapy to alleviate reduced lung function.
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| 9. |
- Elks, Cathy E, et al.
(författare)
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Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:12, s. 1077-85
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Tidskriftsartikel (refereegranskat)abstract
- To identify loci for age at menarche, we performed a meta-analysis of 32 genome-wide association studies in 87,802 women of European descent, with replication in up to 14,731 women. In addition to the known loci at LIN28B (P = 5.4 × 10⁻⁶⁰) and 9q31.2 (P = 2.2 × 10⁻³³), we identified 30 new menarche loci (all P < 5 × 10⁻⁸) and found suggestive evidence for a further 10 loci (P < 1.9 × 10⁻⁶). The new loci included four previously associated with body mass index (in or near FTO, SEC16B, TRA2B and TMEM18), three in or near other genes implicated in energy homeostasis (BSX, CRTC1 and MCHR2) and three in or near genes implicated in hormonal regulation (INHBA, PCSK2 and RXRG). Ingenuity and gene-set enrichment pathway analyses identified coenzyme A and fatty acid biosynthesis as biological processes related to menarche timing.
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| 10. |
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| 11. |
- Willer, Cristen J., et al.
(författare)
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Six new loci associated with body mass index highlight a neuronal influence on body weight regulation
- 2009
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:1, s. 25-34
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Tidskriftsartikel (refereegranskat)abstract
- Common variants at only two loci, FTO and MC4R, have been reproducibly associated with body mass index (BMI) in humans. To identify additional loci, we conducted meta-analysis of 15 genome-wide association studies for BMI (n > 32,000) and followed up top signals in 14 additional cohorts (n > 59,000). We strongly confirm FTO and MC4R and identify six additional loci (P < 5 x 10(-8)): TMEM18, KCTD15, GNPDA2, SH2B1, MTCH2 and NEGR1 (where a 45-kb deletion polymorphism is a candidate causal variant). Several of the likely causal genes are highly expressed or known to act in the central nervous system (CNS), emphasizing, as in rare monogenic forms of obesity, the role of the CNS in predisposition to obesity.
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| 12. |
- Bacchus, E., et al.
(författare)
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Project 1640 observations of the white dwarf HD 114174 B
- 2017
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Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 469:4, s. 4796-4805
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Tidskriftsartikel (refereegranskat)abstract
- We present the first near infrared spectrum of the faint white dwarf companion HD 114174 B, obtained with Project 1640. Our spectrum, covering the Y, J and H bands, combined with previous TaRgetting bENchmark-objects with Doppler Spectroscopy (TRENDS) photometry measurements, allows us to place further constraints on this companion. We suggest two possible scenarios; either this object is an old, low-mass, cool H atmosphere white dwarf with T-eff similar to 3800 K or a high-mass white dwarf with T-eff > 6000 K, potentially with an associated cool (T-eff similar to 700 K) brown dwarf or debris disc resulting in an infrared excess in the L' band. We also provide an additional astrometry point for 2014 June 12 and use the modelled companion mass combined with the radial velocity and direct imaging data to place constraints on the orbital parameters for this companion.
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| 13. |
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| 16. |
- Newton-Cheh, Christopher, et al.
(författare)
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Genome-wide association study identifies eight loci associated with blood pressure
- 2009
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:6, s. 666-676
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Tidskriftsartikel (refereegranskat)abstract
- Elevated blood pressure is a common, heritable cause of cardiovascular disease worldwide. To date, identification of common genetic variants influencing blood pressure has proven challenging. We tested 2.5 million genotyped and imputed SNPs for association with systolic and diastolic blood pressure in 34,433 subjects of European ancestry from the Global BPgen consortium and followed up findings with direct genotyping (N <= 71,225 European ancestry, N <= 12,889 Indian Asian ancestry) and in silico comparison (CHARGE consortium, N 29,136). We identified association between systolic or diastolic blood pressure and common variants in eight regions near the CYP17A1 (P = 7 x 10(-24)), CYP1A2 (P = 1 x 10(-23)), FGF5 (P = 1 x 10(-21)), SH2B3 (P = 3 x 10(-18)), MTHFR (P = 2 x 10(-13)), c10orf107 (P = 1 x 10(-9)), ZNF652 (P = 5 x 10(-9)) and PLCD3 (P = 1 x 10(-8)) genes. All variants associated with continuous blood pressure were associated with dichotomous hypertension. These associations between common variants and blood pressure and hypertension offer mechanistic insights into the regulation of blood pressure and may point to novel targets for interventions to prevent cardiovascular disease.
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| 17. |
- Nilsson, Ricky, et al.
(författare)
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Project 1640 Observations of Brown Dwarf GJ 758 B : Near-infrared Spectrum and Atmospheric Modeling
- 2017
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Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 838:1
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Tidskriftsartikel (refereegranskat)abstract
- The nearby Sun-like star GJ 758 hosts a cold substellar companion, GJ 758 B, at a projected separation of l less than or similar to 30 au, previously detected in high-contrast multi-band photometric observations. In order to better constrain the companion's physical characteristics, we acquired the first low-resolution (R similar to 50) near-infrared spectrum of it using the high-contrast hyperspectral imaging instrument Project 1640 on Palomar Observatory's 5 m Hale telescope. We obtained simultaneous images in 32 wavelength channels covering the Y, J, and H bands (similar to 9521770 nm), and used data processing techniques based on principal component analysis to efficiently subtract chromatic background speckle-noise. GJ 758 B was detected in four epochs during 2013 and 2014. Basic astrometric measurements confirm its apparent northwest trajectory relative to the primary star, with no clear signs of orbital curvature. Spectra of SpeX/IRTF observed T dwarfs were compared to the combined spectrum of GJ 758 B, with chi(2) minimization suggesting a best fit for spectral type T7.0 +/- 1.0, but with a shallow minimum over T5T8. Fitting of synthetic spectra from the BT-Settl13 model atmospheres gives an effective temperature T-eff = 741 +/- 25 K and surface gravity log g=4.3 +/- 0.5 dex (cgs). Our derived best-fit spectral type and effective temperature from modeling of the low-resolution spectrum suggest a slightly earlier and hotter companion than previous findings from photometric data, but do not rule out current results, and confirm GJ 758 B as one of the coolest sub-stellar companions to a Sun-like star to date.
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| 18. |
- Wang, Thomas J, et al.
(författare)
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Common genetic determinants of vitamin D insufficiency: a genome-wide association study.
- 2010
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Ingår i: Lancet. - 1474-547X. ; 376:9736, s. 180-8
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Vitamin D is crucial for maintenance of musculoskeletal health, and might also have a role in extraskeletal tissues. Determinants of circulating 25-hydroxyvitamin D concentrations include sun exposure and diet, but high heritability suggests that genetic factors could also play a part. We aimed to identify common genetic variants affecting vitamin D concentrations and risk of insufficiency. METHODS: We undertook a genome-wide association study of 25-hydroxyvitamin D concentrations in 33 996 individuals of European descent from 15 cohorts. Five epidemiological cohorts were designated as discovery cohorts (n=16 125), five as in-silico replication cohorts (n=9367), and five as de-novo replication cohorts (n=8504). 25-hydroxyvitamin D concentrations were measured by radioimmunoassay, chemiluminescent assay, ELISA, or mass spectrometry. Vitamin D insufficiency was defined as concentrations lower than 75 nmol/L or 50 nmol/L. We combined results of genome-wide analyses across cohorts using Z-score-weighted meta-analysis. Genotype scores were constructed for confirmed variants. FINDINGS: Variants at three loci reached genome-wide significance in discovery cohorts for association with 25-hydroxyvitamin D concentrations, and were confirmed in replication cohorts: 4p12 (overall p=1.9x10(-109) for rs2282679, in GC); 11q12 (p=2.1x10(-27) for rs12785878, near DHCR7); and 11p15 (p=3.3x10(-20) for rs10741657, near CYP2R1). Variants at an additional locus (20q13, CYP24A1) were genome-wide significant in the pooled sample (p=6.0x10(-10) for rs6013897). Participants with a genotype score (combining the three confirmed variants) in the highest quartile were at increased risk of having 25-hydroxyvitamin D concentrations lower than 75 nmol/L (OR 2.47, 95% CI 2.20-2.78, p=2.3x10(-48)) or lower than 50 nmol/L (1.92, 1.70-2.16, p=1.0x10(-26)) compared with those in the lowest quartile. INTERPRETATION: Variants near genes involved in cholesterol synthesis, hydroxylation, and vitamin D transport affect vitamin D status. Genetic variation at these loci identifies individuals who have substantially raised risk of vitamin D insufficiency. FUNDING: Full funding sources listed at end of paper (see Acknowledgments).
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| 19. |
- Chen, S., et al.
(författare)
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A Reliability Study of Nanoparticles Reinforced Composite Lead-Free Solder
- 2010
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Ingår i: Materials Transactions. - 1347-5320 .- 1345-9678. ; 51:10, s. 1720-1726
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Tidskriftsartikel (refereegranskat)abstract
- This work looks at the development and investigation of a reinforced composite solder with low melting point The composite solder was prepared by adding Sn 3 0Ag 0 5Cu nanoparticles Into Sn 58BI solder paste 1 he Sn 3 0Ag 0 5Cu nanoparticles were manufactured using a self developed Consumable electrode Direct Current Arc (CDCA) technique The test FR 4 Printed Circuit Board (PCB) with Cu pad and Electroless Nickel Immersion Gold (ENIG) surface finish were fabricated and fifty SR1206 chip resistors were mounted on pads of test PCB with the reinforced composite solder paste by using conventional surface mount technology The differential scanning calorimetry (DSC) was used to analyze the constituent of the composite solder Joint after reflow A scanning electron microscope (SEM) transmission electron microscope (TEM) and optical microscope (OM) were employed in order to observe the morphology of nanoparticles the microstructure of reinforced composite solder Joint the crack initiation and propagation in solder Joint and the fracture mode after shear test The thermal cycling (TC) was carried out with a temperature range of 40 degrees C and 125 C The contract resistance of the solder Joint was measured during thermal cycling and the shear test of solder Joints was performed before and after 500 thermal cycles After the shear test all fracture surfaces were inspected to identify the fracture mode of the composite solder joint The results of the experiments detailed in this work indicate that the shear strength of the composite solder increased 2 times in comparison to Sn 58B(1) Meanwhile the thermomechanical fatigue (TMF) resistance of the composite solder with 1 mass% nanoparticles was 16 times stronger than Sn 58BI and 4 times stronger than Sn 3 0Ag 0 5Cu However the tendency of forming micro cracks between nanoparticles and solder matrix and the fracture within solder was increased for solder joints with more than 3 mass% nanoparticles after thermal cycling.
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| 20. |
- Gerotziafas, GT, et al.
(författare)
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Guidance for the Management of Patients with Vascular Disease or Cardiovascular Risk Factors and COVID-19: Position Paper from VAS-European Independent Foundation in Angiology/Vascular Medicine
- 2020
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Ingår i: Thrombosis and haemostasis. - : Georg Thieme Verlag KG. - 2567-689X .- 0340-6245. ; 120:12, s. 1597-1628
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Tidskriftsartikel (refereegranskat)abstract
- COVID-19 is also manifested with hypercoagulability, pulmonary intravascular coagulation, microangiopathy, and venous thromboembolism (VTE) or arterial thrombosis. Predisposing risk factors to severe COVID-19 are male sex, underlying cardiovascular disease, or cardiovascular risk factors including noncontrolled diabetes mellitus or arterial hypertension, obesity, and advanced age. The VAS-European Independent Foundation in Angiology/Vascular Medicine draws attention to patients with vascular disease (VD) and presents an integral strategy for the management of patients with VD or cardiovascular risk factors (VD-CVR) and COVID-19. VAS recommends (1) a COVID-19-oriented primary health care network for patients with VD-CVR for identification of patients with VD-CVR in the community and patients' education for disease symptoms, use of eHealth technology, adherence to the antithrombotic and vascular regulating treatments, and (2) close medical follow-up for efficacious control of VD progression and prompt application of physical and social distancing measures in case of new epidemic waves. For patients with VD-CVR who receive home treatment for COVID-19, VAS recommends assessment for (1) disease worsening risk and prioritized hospitalization of those at high risk and (2) VTE risk assessment and thromboprophylaxis with rivaroxaban, betrixaban, or low-molecular-weight heparin (LMWH) for those at high risk. For hospitalized patients with VD-CVR and COVID-19, VAS recommends (1) routine thromboprophylaxis with weight-adjusted intermediate doses of LMWH (unless contraindication); (2) LMWH as the drug of choice over unfractionated heparin or direct oral anticoagulants for the treatment of VTE or hypercoagulability; (3) careful evaluation of the risk for disease worsening and prompt application of targeted antiviral or convalescence treatments; (4) monitoring of D-dimer for optimization of the antithrombotic treatment; and (5) evaluation of the risk of VTE before hospital discharge using the IMPROVE-D-dimer score and prolonged post-discharge thromboprophylaxis with rivaroxaban, betrixaban, or LMWH.
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| 21. |
- Prentice, S. J., et al.
(författare)
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SN 2016coi/ASASSN-16fp : an example of residual helium in a type Ic supernova?
- 2018
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Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 478:3, s. 4162-4192
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Tidskriftsartikel (refereegranskat)abstract
- The optical observations of Ic-4 supernova (SN) 2016coi/ASASSN-16fp, from similar to 2 to similar to 450 d after explosion, are presented along with analysis of its physical properties. The SN shows the broad lines associated with SNe Ic-3/4 but with a key difference. The early spectra display a strong absorption feature at similar to 5400 angstrom which is not seen in other SNe Ic-3/4 at this epoch. This feature has been attributed to He I in the literature. Spectral modelling of the SN in the early photospheric phase suggests the presence of residual He in a C/O dominated shell. However, the behaviour of the He I lines is unusual when compared with He-rich SNe, showing relatively low velocities and weakening rather than strengthening over time. The SN is found to rise to peak similar to 16 d after core-collapse reaching a bolometric luminosity of L-p similar to 3 x 10(42) erg s(-1). Spectral models, including the nebular epoch, show that the SN ejected 2.5-4M(circle dot) of material, with similar to 1.5M(circle dot) below 5000 km s(-1), and with a kinetic energy of (4.5-7) x 10(51) erg. The explosion synthesized similar to 0.14M(circle dot) of Ni-56. There are significant uncertainties in E(B - V)(host) and the distance, however, which will affect L-p and M-Ni. SN 2016coi exploded in a host similar to the Large Magellanic Cloud (LMC) and away from star-forming regions. The properties of the SN and the host-galaxy suggest that the progenitor had M-ZAMS of 23-28M(circle dot) and was stripped almost entirely down to its C/O core at explosion.
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| 22. |
- Stolk, Lisette, et al.
(författare)
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Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways
- 2012
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:3, s. 260-268
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Tidskriftsartikel (refereegranskat)abstract
- To newly identify loci for age at natural menopause, we carried out a meta-analysis of 22 genome-wide association studies (GWAS) in 38,968 women of European descent, with replication in up to 14,435 women. In addition to four known loci, we identified 13 loci newly associated with age at natural menopause (at P < 5 × 10(-8)). Candidate genes located at these newly associated loci include genes implicated in DNA repair (EXO1, HELQ, UIMC1, FAM175A, FANCI, TLK1, POLG and PRIM1) and immune function (IL11, NLRP11 and PRRC2A (also known as BAT2)). Gene-set enrichment pathway analyses using the full GWAS data set identified exoDNase, NF-κB signaling and mitochondrial dysfunction as biological processes related to timing of menopause.
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| 23. |
- Evangelou, Evangelos, et al.
(författare)
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Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22
- 2011
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Ingår i: Annals of the Rheumatic Diseases. - : BMJ. - 1468-2060 .- 0003-4967. ; 70:2, s. 349-355
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Tidskriftsartikel (refereegranskat)abstract
- Objectives Osteoarthritis (OA) is the most prevalent form of arthritis and accounts for substantial morbidity and disability, particularly in older people. It is characterised by changes in joint structure, including degeneration of the articular cartilage, and its aetiology is multifactorial with a strong postulated genetic component. Methods A meta-analysis was performed of four genome-wide association (GWA) studies of 2371 cases of knee OA and 35 909 controls in Caucasian populations. Replication of the top hits was attempted with data from 10 additional replication datasets. Results With a cumulative sample size of 6709 cases and 44 439 controls, one genome-wide significant locus was identified on chromosome 7q22 for knee OA (rs4730250, p = 9.2 x 10(-9)), thereby confirming its role as a susceptibility locus for OA. Conclusion The associated signal is located within a large (500 kb) linkage disequilibrium block that contains six genes: PRKAR2B (protein kinase, cAMP-dependent, regulatory, type II, beta), HPB1 (HMG-box transcription factor 1), COG5 (component of oligomeric golgi complex 5), GPR22 (G protein-coupled receptor 22), DUS4L (dihydrouridine synthase 4-like) and BCAP29 (B cell receptor-associated protein 29). Gene expression analyses of the (six) genes in primary cells derived from different joint tissues confirmed expression of all the genes in the joint environment.
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| 24. |
- Jin, Z., et al.
(författare)
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Increased ecohydrological drying over terrestrial ecosystems
- 2022
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Ingår i: Atmospheric Research. - : Elsevier BV. - 0169-8095. ; 277
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Tidskriftsartikel (refereegranskat)abstract
- The greening and browning of global vegetation are driven by various processes such as climate change, CO2 fertilization, and land management, etc. From the perspective of the vegetation-water-heat relationship, the above processes can be briefly summarized as two types of eco-hydrological processes: 1. dryness change; 2. usage change. We here present a diagnostic procedure to identify the dominant eco-hydrological processes, thus evaluate the climate change impacts on ecosystems. Utilizing remote-sensing based leaf area index (LAI) and climate data during 1982-2016, we demonstrate that dryness changes showed prior dominance over 1/4 global lands where LAI trends are significant. Concretely, drying/wetting has expanded/reduced its regional dominance from 8%/15.8% (1982-1999) to 18.1%/11.9% (1999-2016), indicating that dryness change has turned to more drying than wetting for global vegetated lands. As increased over twofold, drying is playing an increasingly important role in the climate change impacts on terrestrial ecosystems, bringing fundamental weakening of global greening.
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| 25. |
- Repapi, Emmanouela, et al.
(författare)
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Genome-wide association study identifies five loci associated with lung function.
- 2010
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 42:1, s. 36-44
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Tidskriftsartikel (refereegranskat)abstract
- Pulmonary function measures are heritable traits that predict morbidity and mortality and define chronic obstructive pulmonary disease (COPD). We tested genome-wide association with forced expiratory volume in 1 s (FEV(1)) and the ratio of FEV(1) to forced vital capacity (FVC) in the SpiroMeta consortium (n = 20,288 individuals of European ancestry). We conducted a meta-analysis of top signals with data from direct genotyping (n < or = 32,184 additional individuals) and in silico summary association data from the CHARGE Consortium (n = 21,209) and the Health 2000 survey (n < or = 883). We confirmed the reported locus at 4q31 and identified associations with FEV(1) or FEV(1)/FVC and common variants at five additional loci: 2q35 in TNS1 (P = 1.11 x 10(-12)), 4q24 in GSTCD (2.18 x 10(-23)), 5q33 in HTR4 (P = 4.29 x 10(-9)), 6p21 in AGER (P = 3.07 x 10(-15)) and 15q23 in THSD4 (P = 7.24 x 10(-15)). mRNA analyses showed expression of TNS1, GSTCD, AGER, HTR4 and THSD4 in human lung tissue. These associations offer mechanistic insight into pulmonary function regulation and indicate potential targets for interventions to alleviate respiratory disease.
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| 26. |
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| 27. |
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| 28. |
- You, Q. L., et al.
(författare)
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Warming amplification over the Arctic Pole and Third Pole: Trends, mechanisms and consequences
- 2021
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Ingår i: Earth-Science Reviews. - : Elsevier BV. - 0012-8252. ; 217
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Tidskriftsartikel (refereegranskat)abstract
- Warming amplification over the Arctic Pole (AP hereafter) and Third Pole (Tibetan Plateau, TP hereafter) can trigger a series of climate responses and have global consequences. Arctic amplification (AA) and Tibetan amplification (TA) are the most significant characteristics of climate change patterns over the two Poles. In this study, trends, mechanisms and consequences of both AA and TA are compared. Based on ERA5 reanalysis during 1979-2020, both AP and TP have undergone significant warming with an annual rate of 0.72 degrees C/decade and 0.34 degrees C/decade respectively, which exceeds the rates for the Northern Hemisphere (0.29 degrees C/decade) and the global means (0.19 degrees C/decade) over the same period. Based on 22 Coupled Model Intercomparison Project Phase 6 models, AA over the AP is warming at a rate almost four times than the global means and twice as fast over the TP. Although both AA and TA are projected to continue in the future, currently there is no consensus on the dominant mechanisms for AA or TA over the two Poles. Proposed mechanisms of AA can be divided into two types: local climate factors (sea ice-albedo feedback, Planck feedback, temperature gradient feedback, cloud feedback, and water vapor feedback); and poleward heat and moisture transport from lower latitudes (atmospheric circulation effect, ocean circulation effect, and modulation of Pacific and Atlantic SST). Consequences of AA include decline of sea ice cover, retreat of the Greenland ice sheet, permafrost degradation, accelerated disturbances in marine and terrestrial ecosystems, and influences on extreme climate events at lower latitudes. Anthropogenic greenhouse gas emission, snow/ice-albedo feedback, cloud-radiation interactions, water vapor and radiative flux feedbacks, local forcing and feedback processes, land use changes and reduction in total ozone, are generally considered to be the main mechanisms causing TA. TA has caused significant change within the atmosphere and cryosphere over the TP and its surroundings, such as changes in climate extremes, snow cover, the retreat of glaciers, and permafrost degradation. Similarities and differences of warming amplifications over the two Poles are proposed, and the relative contribution of each mechanism to the warming amplifications and how the specific consequences may compare over the two Poles remain unclear and under continuing investigation.
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| 29. |
- Ausin, Israel, et al.
(författare)
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DNA methylome of the 20-gigabase Norway spruce genome
- 2016
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Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 113:50, s. E8106-E8113
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Tidskriftsartikel (refereegranskat)abstract
- DNA methylation plays important roles in many biological processes, such as silencing of transposable elements, imprinting, and regulating gene expression. Many studies of DNA methylation have shown its essential roles in angiosperms (flowering plants). However, few studies have examined the roles and patterns of DNA methylation in gymnosperms. Here, we present genome-wide high coverage single-base resolution methylation maps of Norway spruce (Picea abies) from both needles and somatic embryogenesis culture cells via whole genome bisulfite sequencing. On average, DNA methylation levels of CG and CHG of Norway spruce were higher than most other plants studied. CHH methylation was found at a relatively low level; however, at least one copy of most of the RNA-directed DNA methylation pathway genes was found in Norway spruce, and CHH methylation was correlated with levels of siRNAs. In comparison with needles, somatic embryogenesis culture cells that are used for clonally propagating spruce trees showed lower levels of CG and CHG methylation but higher level of CHH methylation, suggesting that like in other species, these culture cells show abnormal methylation patterns.
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| 30. |
- Bell, Jordana T, et al.
(författare)
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Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population.
- 2012
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Ingår i: PLOS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 8:4
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Tidskriftsartikel (refereegranskat)abstract
- Age-related changes in DNA methylation have been implicated in cellular senescence and longevity, yet the causes and functional consequences of these variants remain unclear. To elucidate the role of age-related epigenetic changes in healthy ageing and potential longevity, we tested for association between whole-blood DNA methylation patterns in 172 female twins aged 32 to 80 with age and age-related phenotypes. Twin-based DNA methylation levels at 26,690 CpG-sites showed evidence for mean genome-wide heritability of 18%, which was supported by the identification of 1,537 CpG-sites with methylation QTLs in cis at FDR 5%. We performed genome-wide analyses to discover differentially methylated regions (DMRs) for sixteen age-related phenotypes (ap-DMRs) and chronological age (a-DMRs). Epigenome-wide association scans (EWAS) identified age-related phenotype DMRs (ap-DMRs) associated with LDL (STAT5A), lung function (WT1), and maternal longevity (ARL4A, TBX20). In contrast, EWAS for chronological age identified hundreds of predominantly hyper-methylated age DMRs (490 a-DMRs at FDR 5%), of which only one (TBX20) was also associated with an age-related phenotype. Therefore, the majority of age-related changes in DNA methylation are not associated with phenotypic measures of healthy ageing in later life. We replicated a large proportion of a-DMRs in a sample of 44 younger adult MZ twins aged 20 to 61, suggesting that a-DMRs may initiate at an earlier age. We next explored potential genetic and environmental mechanisms underlying a-DMRs and ap-DMRs. Genome-wide overlap across cis-meQTLs, genotype-phenotype associations, and EWAS ap-DMRs identified CpG-sites that had cis-meQTLs with evidence for genotype-phenotype association, where the CpG-site was also an ap-DMR for the same phenotype. Monozygotic twin methylation difference analyses identified one potential environmentally-mediated ap-DMR associated with total cholesterol and LDL (CSMD1). Our results suggest that in a small set of genes DNA methylation may be a candidate mechanism of mediating not only environmental, but also genetic effects on age-related phenotypes.
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| 31. |
- Coviello, Andrea D, et al.
(författare)
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A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.
- 2012
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Ingår i: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404 .- 1553-7390. ; 8:7
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Tidskriftsartikel (refereegranskat)abstract
- Sex hormone-binding globulin (SHBG) is a glycoprotein responsible for the transport and biologic availability of sex steroid hormones, primarily testosterone and estradiol. SHBG has been associated with chronic diseases including type 2 diabetes (T2D) and with hormone-sensitive cancers such as breast and prostate cancer. We performed a genome-wide association study (GWAS) meta-analysis of 21,791 individuals from 10 epidemiologic studies and validated these findings in 7,046 individuals in an additional six studies. We identified twelve genomic regions (SNPs) associated with circulating SHBG concentrations. Loci near the identified SNPs included SHBG (rs12150660, 17p13.1, p=1.8×10(-106)), PRMT6 (rs17496332, 1p13.3, p=1.4×10(-11)), GCKR (rs780093, 2p23.3, p=2.2×10(-16)), ZBTB10 (rs440837, 8q21.13, p=3.4×10(-09)), JMJD1C (rs7910927, 10q21.3, p=6.1×10(-35)), SLCO1B1 (rs4149056, 12p12.1, p=1.9×10(-08)), NR2F2 (rs8023580, 15q26.2, p=8.3×10(-12)), ZNF652 (rs2411984, 17q21.32, p=3.5×10(-14)), TDGF3 (rs1573036, Xq22.3, p=4.1×10(-14)), LHCGR (rs10454142, 2p16.3, p=1.3×10(-07)), BAIAP2L1 (rs3779195, 7q21.3, p=2.7×10(-08)), and UGT2B15 (rs293428, 4q13.2, p=5.5×10(-06)). These genes encompass multiple biologic pathways, including hepatic function, lipid metabolism, carbohydrate metabolism and T2D, androgen and estrogen receptor function, epigenetic effects, and the biology of sex steroid hormone-responsive cancers including breast and prostate cancer. We found evidence of sex-differentiated genetic influences on SHBG. In a sex-specific GWAS, the loci 4q13.2-UGT2B15 was significant in men only (men p=2.5×10(-08), women p=0.66, heterogeneity p=0.003). Additionally, three loci showed strong sex-differentiated effects: 17p13.1-SHBG and Xq22.3-TDGF3 were stronger in men, whereas 8q21.12-ZBTB10 was stronger in women. Conditional analyses identified additional signals at the SHBG gene that together almost double the proportion of variance explained at the locus. Using an independent study of 1,129 individuals, all SNPs identified in the overall or sex-differentiated or conditional analyses explained ∼15.6% and ∼8.4% of the genetic variation of SHBG concentrations in men and women, respectively. The evidence for sex-differentiated effects and allelic heterogeneity highlight the importance of considering these features when estimating complex trait variance.
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| 32. |
- Crepp, Justin R., et al.
(författare)
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DIRECT SPECTRUM OF THE BENCHMARK T DWARF HD 19467 B
- 2015
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Ingår i: Astrophysical Journal Letters. - 2041-8205 .- 2041-8213. ; 798:2
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Tidskriftsartikel (refereegranskat)abstract
- HD 19467 B is presently the only directly imaged T dwarf companion known to induce a measurable Doppler acceleration around a solar-type star. We present spectroscopy measurements of this important benchmark object taken with the Project 1640 integral field unit at Palomar Observatory. Our high-contrast R approximate to 30 observations obtained simultaneously across the JH bands confirm the cold nature of the companion as reported from the discovery article and determine its spectral type for the first time. Fitting the measured spectral energy distribution to SpeX/IRTF T dwarf standards and synthetic spectra from BT-Settl atmospheric models, we find that HD 19467 B is a T5.5 +/- 1 dwarf with effective temperature T-eff = 978(-43)(+20) K. Our observations reveal significant methane absorption affirming its substellar nature. HD 19467 B shows promise to become the first T dwarf that simultaneously reveals its mass, age, and metallicity independent from the spectrum of light that it emits.
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| 33. |
- Farnocchia, Davide, et al.
(författare)
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International Asteroid Warning Network Timing Campaign: 2019 XS
- 2022
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Ingår i: The Planetary Science Journal. - : Institute of Physics Publishing (IOPP). - 2632-3338. ; 3:7
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Tidskriftsartikel (refereegranskat)abstract
- As part of the International Asteroid Warning Network's observational exercises, we conducted a campaign to observe near-Earth asteroid 2019 XS around its close approach to Earth on 2021 November 9. The goal of the campaign was to characterize errors in the observation times reported to the Minor Planet Center, which become an increasingly important consideration as astrometric accuracy improves and more fast-moving asteroids are observed. As part of the exercise, a total of 957 astrometric observations of 2019 XS during the encounter were reported and subsequently were analyzed to obtain the corresponding residuals. While the timing errors are typically smaller than 1 s, the reported times appear to be negatively biased, i.e., they are generally earlier than they should be. We also compared the observer-provided position uncertainty with the cross-track residuals, which are independent of timing errors. A large fraction of the estimated uncertainties appear to be optimistic, especially when <0 2. We compiled individual reports for each observer to help identify and remove the root cause of any possible timing error and improve the uncertainty quantification process. We suggest possible sources of timing errors and describe a simple procedure to derive reliable, conservative position uncertainties.
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| 34. |
- Farnocchia, Davide, et al.
(författare)
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The Second International Asteroid Warning Network Timing Campaign: 2005 LW3
- 2023
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Ingår i: The Planetary Science Journal. - : Institute of Physics (IOP). - 2632-3338. ; 4:11
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Tidskriftsartikel (refereegranskat)abstract
- The Earth close approach of near-Earth asteroid 2005 LW3 on 2022 November 23 represented a good opportunity for a second observing campaign to test the timing accuracy of astrometric observation. With 82 participating stations, the International Asteroid Warning Network collected 1046 observations of 2005 LW3 around the time of the close approach. Compared to the previous timing campaign targeting 2019 XS, some individual observers were able to significantly improve the accuracy of their reported observation times. In particular, U.S. surveys achieved good timing performance. However, no broad, systematic improvement was achieved compared to the previous campaign, with an overall negative bias persisting among the different observers. The calibration of observing times and the mitigation of timing errors should be important future considerations for observers and orbit computers, respectively.
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| 35. |
- Galbany, L., et al.
(författare)
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Evidence for a Chandrasekhar-mass explosion in the Ca-strong 1991bg-like type la supernova 2016hnk
- 2019
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 630
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Tidskriftsartikel (refereegranskat)abstract
- Aims. We present a comprehensive dataset of optical and near-infrared photometry and spectroscopy of type Ia supernova (SN) 2016hnk, combined with integral field spectroscopy (IFS) of its host galaxy, MCG -01-06-070, and nearby environment. Our goal with this complete dataset is to understand the nature of this peculiar object.Methods. Properties of the SN local environment are characterized by means of single stellar population synthesis applied to IFS observations taken two years after the SN exploded. We performed detailed analyses of SN photometric data by studying its peculiar light and color curves. SN 2016hnk spectra were compared to other 1991bg-like SNe Ia, 2002es-like SNe Ia, and Ca-rich transients. In addition, we used abundance stratification modeling to identify the various spectral features in the early phase spectral sequence and also compared the dataset to a modified non-LTE model previously produced for the sublumnious SN 1999by.Results. SN 2016hnk is consistent with being a subluminous (M-B = -16.7 mag, S-BV =0.43 +/- 0.03), highly reddened object. The IFS of its host galaxy reveals both a significant amount of dust at the SN location, residual star formation, and a high proportion of old stellar populations in the local environment compared to other locations in the galaxy, which favors an old progenitor for SN 2016hnk. Inspection of a nebular spectrum obtained one year after maximum contains two narrow emission lines attributed to the forbidden [Ca II] lambda lambda 7291,7324 doublet with a Doppler shift of 700 km s(-1). Based on various observational diagnostics, we argue that the progenitor of SN 2016hnk was likely a near Chandrasekhar-mass (M-Ch) carbon-oxygen white dwarf that produced 0.108 M-circle dot of Ni-56. Our modeling suggests that the narrow [Ca II] features observed in the nebular spectrum are associated with Ca-48 from electron capture during the explosion, which is expected to occur only in white dwarfs that explode near or at the M-Ch limit.
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| 36. |
- Gao, Y., et al.
(författare)
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Cooling pitch cabinets in wind turbines using a pulsating heat pipe : A case study
- 2023
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Ingår i: Case Studies in Thermal Engineering. - : Elsevier Ltd. - 2214-157X. ; 50
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Tidskriftsartikel (refereegranskat)abstract
- As the electric capacity of wind turbine increases, heat dissipation in pitch cabinets becomes challenging owing to the limited space and rotating conditions. To cool down the pitch cabinet more effectively and allow heat dissipation, we designed and implemented a pulsating heat pipe (PHP) in this study. We designed PHP parameters and conducted performance tests to compare the cooling performance of the fabricated PHP with that of an air-based cooling system in a 1.5 MW wind turbine. The results demonstrated steady PHP operation under rotating conditions (17.3 rpm). At a heat load of 1000 W, the evaporator outlet temperature was only 76.1 °C. However, increasing the ambient temperature adversely affected PHP operation, resulting in higher temperature and thermal resistance. The heat-pipe-based cooling system lowered the insulated gate bipolar transistor (IGBT) temperature by about 20.4 °C in relation to the air-based cooling system, while being suitable under varied conditions. Additionally, the system could successfully operate when the heat load of IGBT was 2350 W, corresponding to a 7 MW electric capacity of the wind turbine. Reducing the manufacturing cost of the heat pipe would further enhance the applicability of this system for pitch cabinet IGBT cooling, such as decreasing payback period.
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| 37. |
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| 38. |
- Gao, YG, et al.
(författare)
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Single cell transcriptional zonation of human psoriasis skin identifies an alternative immunoregulatory axis conducted by skin resident cells
- 2021
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Ingår i: Cell death & disease. - : Springer Science and Business Media LLC. - 2041-4889. ; 12:5, s. 450-
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Tidskriftsartikel (refereegranskat)abstract
- Psoriasis is the most common skin disease in adults. Current experimental and clinical evidences suggested the infiltrating immune cells could target local skin cells and thus induce psoriatic phenotype. However, recent studies indicated the existence of a potential feedback signaling loop from local resident skin cells to infiltrating immune cells. Here, we deconstructed the full-thickness human skins of both healthy donors and patients with psoriasis vulgaris at single cell transcriptional level, and further built a neural-network classifier to evaluate the evolutional conservation of skin cell types between mouse and human. Last, we systematically evaluated the intrinsic and intercellular molecular alterations of each cell type between healthy and psoriatic skin. Cross-checking with psoriasis susceptibility gene loci, cell-type based differential expression, and ligand-receptor communication revealed that the resident psoriatic skin cells including mesenchymal and epidermis cell types, which specifically harbored the target genes of psoriasis susceptibility loci, intensively evoked the expression of major histocompatibility complex (MHC) genes, upregulated interferon (INF), tumor necrosis factor (TNF) signalling and increased cytokine gene expression for primarily aiming the neighboring dendritic cells in psoriasis. The comprehensive exploration and pathological observation of psoriasis patient biopsies proposed an uncovered immunoregulatory axis from skin local resident cells to immune cells, thus provided a novel insight for psoriasis treatment. In addition, we published a user-friendly website to exhibit the transcriptional change of each cell type between healthy and psoriatic human skin.
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| 39. |
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| 40. |
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| 41. |
- Guo, Lifang, et al.
(författare)
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Improving the compatibility, surface strength, and dimensional stability of cellulosic fibers using glycidyl methacrylate grafting
- 2020
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Ingår i: Journal of Materials Science. - : Springer. - 0022-2461 .- 1573-4803. ; 55:27, s. 12906-12920
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Tidskriftsartikel (refereegranskat)abstract
- The graft copolymerization of lignocellulosic fibers with glycidyl methacrylate (GMA) using a Fe2+-thiourea dioxide-H(2)O(2)redox system (Fe2+-TD-H2O2) was studied to overcome the problems of poor compatibility and low surface strength when cellulosic fibers are composited with synthetic polymers. The results show that cellulose-poly(GMA) (CPGMA) was successfully synthesized from GMA and bleachedEucalyptuscellulosic fibers by Fe2+-TD-H(2)O(2)in a mild aqueous solution. CPGMA had high graft rate (244%), high content of epoxy group, and high stability in water. X-ray diffraction patterns and(13)C cross-polarization magic angle spinning nuclear magnetic resonance spectra analyses showed that graft copolymerization did not change the crystalline structure of the CPGMA fiber backbone cellulose, but the crystallinity of the CPGMA fiber decreased with an increase in amorphous PGMA grafting. Scanning electron microscopy confirmed that the grafting reaction occurred both inside and outside the fiber. The specific surface area and pore diameter of the grafted fibers were significantly affected by the grafting. The hydrophobicity of the fibers was significantly enhanced by graft copolymerization. PGMA grafting can enhance the compatibility between the modified fiber and synthetic polymer matrix, improving the processing runnability and product properties of composite materials. A high intensity focused ultrasound method was used to analyze the fiber surface strength. It was confirmed that graft copolymerization significantly improved the surface strength of the grafted fibers. Graft copolymerization can significantly improve the dimensional stability of cellulosic fibers.
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| 42. |
- Hancock, Dana B, et al.
(författare)
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Genome-Wide Joint Meta-Analysis of SNP and SNP-by-Smoking Interaction Identifies Novel Loci for Pulmonary Function
- 2012
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Ingår i: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 8:12, s. e1003098-
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies have identified numerous genetic loci for spirometic measures of pulmonary function, forced expiratory volume in one second (FEV1), and its ratio to forced vital capacity (FEV1/FVC). Given that cigarette smoking adversely affects pulmonary function, we conducted genome-wide joint meta-analyses (JMA) of single nucleotide polymorphism (SNP) and SNP-by-smoking (ever-smoking or pack-years) associations on FEV1 and FEV1/FVC across 19 studies (total N = 50,047). We identified three novel loci not previously associated with pulmonary function. SNPs in or near DNER (smallest PJMA = 5.00×10−11), HLA-DQB1 and HLA-DQA2 (smallest PJMA = 4.35×10−9), and KCNJ2 and SOX9 (smallest PJMA = 1.28×10−8) were associated with FEV1/FVC or FEV1 in meta-analysis models including SNP main effects, smoking main effects, and SNP-by-smoking (ever-smoking or pack-years) interaction. The HLA region has been widely implicated for autoimmune and lung phenotypes, unlike the other novel loci, which have not been widely implicated. We evaluated DNER, KCNJ2, and SOX9 and found them to be expressed in human lung tissue. DNER and SOX9 further showed evidence of differential expression in human airway epithelium in smokers compared to non-smokers. Our findings demonstrated that joint testing of SNP and SNP-by-environment interaction identified novel loci associated with complex traits that are missed when considering only the genetic main effects.
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| 43. |
- Hsu, Yi-Hsiang, et al.
(författare)
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An Integration of Genome-Wide Association Study and Gene Expression Profiling to Prioritize the Discovery of Novel Susceptibility Loci for Osteoporosis-Related Traits
- 2010
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Ingår i: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 6:6, s. e1000977-
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Tidskriftsartikel (refereegranskat)abstract
- Osteoporosis is a complex disorder and commonly leads to fractures in elderly persons. Genome-wide association studies (GWAS) have become an unbiased approach to identify variations in the genome that potentially affect health. However, the genetic variants identified so far only explain a small proportion of the heritability for complex traits. Due to the modest genetic effect size and inadequate power, true association signals may not be revealed based on a stringent genome-wide significance threshold. Here, we take advantage of SNP and transcript arrays and integrate GWAS and expression signature profiling relevant to the skeletal system in cellular and animal models to prioritize the discovery of novel candidate genes for osteoporosis-related traits, including bone mineral density (BMD) at the lumbar spine (LS) and femoral neck (FN), as well as geometric indices of the hip (femoral neck-shaft angle, NSA; femoral neck length, NL; and narrow-neck width, NW). A two-stage meta-analysis of GWAS from 7,633 Caucasian women and 3,657 men, revealed three novel loci associated with osteoporosis-related traits, including chromosome 1p13.2 (RAP1A, p = 3.6 x 10(-8)), 2q11.2 (TBC1D8), and 18q11.2 (OSBPL1A), and confirmed a previously reported region near TNFRSF11B/OPG gene. We also prioritized 16 suggestive genome-wide significant candidate genes based on their potential involvement in skeletal metabolism. Among them, 3 candidate genes were associated with BMD in women. Notably, 2 out of these 3 genes (GPR177, p = 2.6 x 10(-13); SOX6, p = 6.4 x 10(-10)) associated with BMD in women have been successfully replicated in a large-scale meta-analysis of BMD, but none of the non-prioritized candidates (associated with BMD) did. Our results support the concept of our prioritization strategy. In the absence of direct biological support for identified genes, we highlighted the efficiency of subsequent functional characterization using publicly available expression profiling relevant to the skeletal system in cellular or whole animal models to prioritize candidate genes for further functional validation.
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| 44. |
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| 45. |
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| 46. |
- Mo, Lixin, et al.
(författare)
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On the temperature dependency and reversibility of sheet resistance of silver nanoparticles covered by 3-mercaptopropionic acid
- 2017
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Ingår i: Journal of materials science. Materials in electronics. - : Springer Science and Business Media LLC. - 0957-4522 .- 1573-482X. ; 28:5, s. 4035-4043
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Tidskriftsartikel (refereegranskat)abstract
- The temperature dependency and reversibility of the sheet resistance of silver nanoparticles covered by 3-mercaptopropionic acid (Ag-MPA) molecules, used in the printed temperature sensor, has been investigated. The microstructural evaluation, the FTIR spectra and thermal property analyses of the Ag-MPA films suggest co-existence of both weakly adsorbed as well as firmly adsorbed MPA molecules on the surface of Ag nanoparticles. The weakly adsorbed MPA molecules was to a great extent be desorbed and removed from the surfaces of silver nanoparticles when heated up to 180 °C for the first time. While the firmly adsorbed MPA molecules remain on the surfaces of silver nanoparticles even at higher temperature. Yet the firmly adsorbed MPA molecules are likely having gone through a transformation circle from/to the gauche and trans conformations in correspondence to a heating and cooling cycle, which results in temperature dependent and reversible sheet resistance. The MPA molecules in the gauche conformation are more densely packed on the surface of silver nanoparticles and can hinder the electron’s movability within the Ag-MPA film. While in the trans conformation with lower ‘surface space’ coverage by the MPA molecules, electrons move more freely within the film. Based on the temperature dependent nature, the fully printed temperature sensor using the Ag-MPA nanoparticles as the functional layer was made, of which the highest sensitivity is 5.12% °C−1 at 200 °C.
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| 47. |
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| 48. |
- Obeidat, Ma'en, et al.
(författare)
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A Comprehensive Evaluation of Potential Lung Function Associated Genes in the SpiroMeta General Population Sample
- 2011
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 6:5, s. e19382-
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Tidskriftsartikel (refereegranskat)abstract
- Rationale: Lung function measures are heritable traits that predict population morbidity and mortality and are essential for the diagnosis of chronic obstructive pulmonary disease (COPD). Variations in many genes have been reported to affect these traits, but attempts at replication have provided conflicting results. Recently, we undertook a meta-analysis of Genome Wide Association Study (GWAS) results for lung function measures in 20,288 individuals from the general population (the SpiroMeta consortium). Objectives: To comprehensively analyse previously reported genetic associations with lung function measures, and to investigate whether single nucleotide polymorphisms (SNPs) in these genomic regions are associated with lung function in a large population sample. Methods: We analysed association for SNPs tagging 130 genes and 48 intergenic regions (+/-10 kb), after conducting a systematic review of the literature in the PubMed database for genetic association studies reporting lung function associations. Results: The analysis included 16,936 genotyped and imputed SNPs. No loci showed overall significant association for FEV1 or FEV1/FVC traits using a carefully defined significance threshold of 1.3 x 10(-5). The most significant loci associated with FEV1 include SNPs tagging MACROD2 (P = 6.81 x 10(-5)), CNTN5 (P = 4.37 x 10(-4)), and TRPV4 (P = 1.58 x 10(-3)). Among ever-smokers, SERPINA1 showed the most significant association with FEV1 (P = 8.41 x 10(-5)), followed by PDE4D (P = 1.22 x 10(-4)). The strongest association with FEV1/FVC ratio was observed with ABCC1 (P = 4.38 x 10(-4)), and ESR1 (P = 5.42 x 10(-4)) among ever-smokers. Conclusions: Polymorphisms spanning previously associated lung function genes did not show strong evidence for association with lung function measures in the SpiroMeta consortium population. Common SERPINA1 polymorphisms may affect FEV1 among smokers in the general population.
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| 49. |
- Ostrander, E. A., et al.
(författare)
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Dog10K : An international sequencing effort to advance studies of canine domestication, phenotypes and health
- 2019
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Ingår i: National Science Review. - : Oxford University Press (OUP). - 2095-5138 .- 2053-714X. ; 6:4, s. 810-824
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Tidskriftsartikel (refereegranskat)abstract
- Dogs are the most phenotypically diverse mammalian species, and they possess more known heritable disorders than any other non-human mammal. Efforts to catalog and characterize genetic variation across well-chosen populations of canines are necessary to advance our understanding of their evolutionary history and genetic architecture. To date, no organized effort has been undertaken to sequence the world's canid populations. The Dog10K Consortium (http://www.dog10kgenomes.org) is an international collaboration of researchers from across the globe who will generate 20× whole genomes from 10 000 canids in 5 years. This effort will capture the genetic diversity that underlies the phenotypic and geographical variability of modern canids worldwide. Breeds, village dogs, niche populations and extended pedigrees are currently being sequenced, and de novo assemblies of multiple canids are being constructed. This unprecedented dataset will address the genetic underpinnings of domestication, breed formation, aging, behavior and morphological variation. More generally, this effort will advance our understanding of human and canine health.
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| 50. |
- Pauly, Daniel, et al.
(författare)
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China's distant-water fisheries in the 21st century
- 2014
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Ingår i: Fish and Fisheries. - : Wiley. - 1467-2960 .- 1467-2979. ; 15:3, s. 474-488
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Tidskriftsartikel (refereegranskat)abstract
- We conservatively estimate the distant-water fleet catch of the People's Republic of China for 2000-2011, using a newly assembled database of reported occurrence of Chinese fishing vessels in various parts of the world and information on the annual catch by vessel type. Given the unreliability of official statistics, uncertainty of results was estimated through a regionally stratified Monte Carlo approach, which documents the presence and number of Chinese vessels in Exclusive Economic Zones and then multiplies these by the expected annual catch per vessel. We find that China, which over-reports its domestic catch, substantially under-reports the catch of its distant-water fleets. This catch, estimated at 4.6 million t year(-1) (95% central distribution, 3.4-6.1 million t year(-1)) from 2000 to 2011 (compared with an average of 368 000 t year(-1) reported by China to FAO), corresponds to an ex-vessel landed value of 8.93 billion year(-1) (95% central distribution, 6.3-12.3 billion). Chinese distant-water fleets extract the largest catch in African waters (3.1 million t year(-1), 95% central distribution, 2.0-4.4 million t), followed by Asia (1.0 million t year(-1), 0.56-1.5 million t), Oceania (198 000 t year(-1), 144 000-262 000 t), Central and South America (182 000 t year-1, 94 000299 000 t) and Antarctica (48 000 t year(-1), 8 000-129 000 t). The uncertainty of these estimates is relatively high, but several sources of inaccuracy could not be fully resolved given the constraints inherent in the underlying data and method, which also prevented us from distinguishing between legal and illegal catch.
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