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- Sampson, Joshua N., et al.
(författare)
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Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for 13 Cancer Types
- 2015
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Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 0027-8874 .- 1460-2105. ; 107:12
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Tidskriftsartikel (refereegranskat)abstract
- Background: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites. Methods: Between 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers. Results: GWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, h(l)(2), on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% confidence interval [CI] = 14% to 37%) and 7% (95% CI = 4% to 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (rho = 0.73, SE = 0.28), diffuse large B-cell lymphoma (DLBCL) and pediatric osteosarcoma (rho = 0.53, SE = 0.21), DLBCL and chronic lymphocytic leukemia (CLL) (rho = 0.51, SE = 0.18), and bladder and lung (rho = 0.35, SE = 0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a nonsmoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures. Conclusion: Our results provide important insights into the genetic architecture of cancers and suggest new avenues for investigation.
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- Estrada, Karol, et al.
(författare)
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Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
- 2012
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 44:5, s. 491-501
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Tidskriftsartikel (refereegranskat)abstract
- Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for replication in 50,933 independent subjects and for association with risk of low-trauma fracture in 31,016 individuals with a history of fracture (cases) and 102,444 controls. We identified 56 loci (32 new) associated with BMD at genome-wide significance (P < 5 × 10(-8)). Several of these factors cluster within the RANK-RANKL-OPG, mesenchymal stem cell differentiation, endochondral ossification and Wnt signaling pathways. However, we also discovered loci that were localized to genes not known to have a role in bone biology. Fourteen BMD-associated loci were also associated with fracture risk (P < 5 × 10(-4), Bonferroni corrected), of which six reached P < 5 × 10(-8), including at 18p11.21 (FAM210A), 7q21.3 (SLC25A13), 11q13.2 (LRP5), 4q22.1 (MEPE), 2p16.2 (SPTBN1) and 10q21.1 (DKK1). These findings shed light on the genetic architecture and pathophysiological mechanisms underlying BMD variation and fracture susceptibility.
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- Halonen, Niina, et al.
(författare)
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Low-temperature growth of multi-walled carbon nanotubes by thermal CVD
- 2011
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Ingår i: Physica status solidi. B, Basic research. - Malden : Wiley-Blackwell. - 0370-1972 .- 1521-3951. ; 248:11, s. 2500-2503
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Tidskriftsartikel (refereegranskat)abstract
- Low-temperature thermal chemical vapor deposition (thermal CVD) synthesis of multi-walled carbon nanotubes (MWCNTs) was studied using a large variety of different precursor compounds. Cyclopentene oxide, tetrahydrofuran, methanol, and xylene: methanol mixture as oxygen containing heteroatomic precursors, while xylene and acetylene as conventional hydrocarbon feedstocks were applied in the experiments. The catalytic activity of Co, Fe, Ni, and their bi-as well as tri-metallic combinations were tested for the reactions. Low-temperature CNT growth occurred at 400 degrees C when using bi-metallic Co-Fe and tri-metallic Ni-Co-Fe catalyst (on alumina) and methanol or acetylene as precursors. In the case of monometallic catalyst nanoparticles, only Co (both on alumina and on silica) was found to be active in the low temperature growth (below 500 degrees C) from oxygenates such as cyclopentene oxide and methanol. The structure and composition of the achieved MWCNTs products were studied by scanning and transmission electron microscopy (SEM and TEM) as well as by Raman and X-ray photoelectron spectroscopy (XPS) and by X-ray diffraction (XRD). The successful MWCNT growth below 500 degrees C is promising from the point of view of integrating MWCNT materials into existing IC fabrication technologies. (C) 2011 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim
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- Schael, S, et al.
(författare)
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Precision electroweak measurements on the Z resonance
- 2006
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Ingår i: Physics Reports. - : Elsevier BV. - 0370-1573 .- 1873-6270. ; 427:5-6, s. 257-454
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Forskningsöversikt (refereegranskat)abstract
- We report on the final electroweak measurements performed with data taken at the Z resonance by the experiments operating at the electron-positron colliders SLC and LEP. The data consist of 17 million Z decays accumulated by the ALEPH, DELPHI, L3 and OPAL experiments at LEP, and 600 thousand Z decays by the SLID experiment using a polarised beam at SLC. The measurements include cross-sections, forward-backward asymmetries and polarised asymmetries. The mass and width of the Z boson, m(Z) and Gamma(Z), and its couplings to fermions, for example the p parameter and the effective electroweak mixing angle for leptons, are precisely measured: m(Z) = 91.1875 +/- 0.0021 GeV, Gamma(Z) = 2.4952 +/- 0.0023 GeV, rho(l) = 1.0050 +/- 0.0010, sin(2)theta(eff)(lept) = 0.23153 +/- 0.00016. The number of light neutrino species is determined to be 2.9840 +/- 0.0082, in agreement with the three observed generations of fundamental fermions. The results are compared to the predictions of the Standard Model (SM). At the Z-pole, electroweak radiative corrections beyond the running of the QED and QCD coupling constants are observed with a significance of five standard deviations, and in agreement with the Standard Model. Of the many Z-pole measurements, the forward-backward asymmetry in b-quark production shows the largest difference with respect to its SM expectation, at the level of 2.8 standard deviations. Through radiative corrections evaluated in the framework of the Standard Model, the Z-pole data are also used to predict the mass of the top quark, m(t) = 173(+10)(+13) GeV, and the mass of the W boson, m(W) = 80.363 +/- 0.032 GeV. These indirect constraints are compared to the direct measurements, providing a stringent test of the SM. Using in addition the direct measurements of m(t) and m(W), the mass of the as yet unobserved SM Higgs boson is predicted with a relative uncertainty of about 50% and found to be less than 285 GeV at 95% confidence level. (c) 2006 Elsevier B.V. All rights reserved.
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- Wang, Zhaoming, et al.
(författare)
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Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33
- 2014
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 23:24, s. 6616-6633
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have mapped risk alleles for at least 10 distinct cancers to a small region of 63 000 bp on chromosome 5p15.33. This region harbors the TERT and CLPTM1L genes; the former encodes the catalytic subunit of telomerase reverse transcriptase and the latter may play a role in apoptosis. To investigate further the genetic architecture of common susceptibility alleles in this region, we conducted an agnostic subset-based meta-analysis (association analysis based on subsets) across six distinct cancers in 34 248 cases and 45 036 controls. Based on sequential conditional analysis, we identified as many as six independent risk loci marked by common single-nucleotide polymorphisms: five in the TERT gene (Region 1: rs7726159, P = 2.10 × 10(-39); Region 3: rs2853677, P = 3.30 × 10(-36) and PConditional = 2.36 × 10(-8); Region 4: rs2736098, P = 3.87 × 10(-12) and PConditional = 5.19 × 10(-6), Region 5: rs13172201, P = 0.041 and PConditional = 2.04 × 10(-6); and Region 6: rs10069690, P = 7.49 × 10(-15) and PConditional = 5.35 × 10(-7)) and one in the neighboring CLPTM1L gene (Region 2: rs451360; P = 1.90 × 10(-18) and PConditional = 7.06 × 10(-16)). Between three and five cancers mapped to each independent locus with both risk-enhancing and protective effects. Allele-specific effects on DNA methylation were seen for a subset of risk loci, indicating that methylation and subsequent effects on gene expression may contribute to the biology of risk variants on 5p15.33. Our results provide strong support for extensive pleiotropy across this region of 5p15.33, to an extent not previously observed in other cancer susceptibility loci.
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- Wu, Ming-Chung, et al.
(författare)
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Nitrogen-doped anatase nanofibers decorated with noble metal nanoparticles for photocatalytic production of hydrogen
- 2011
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Ingår i: ACS NANO. - : American Chemical Society. - 1936-0851 .- 1936-086X. ; 5:6, s. 5025-5030
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Tidskriftsartikel (refereegranskat)abstract
- We report the synthesis of N-doped TiO2 nanofibers and high photocatalytic efficiency in generating hydrogen from ethanol-water mixtures under UV-A and UV-B irradiation. Titanate nanofibers synthesized by hydrothermal method are annealed in air and/or ammonia to achieve N-doped anatase fibers. Depending on the synthesis route, either interstitial N atoms or new N-Ti bonds appear in the lattice resulting in slight lattice expansion as shown by XPS and HR-TEM analyses, respectively. These nanofibers were then used as support for Pd and Pt nanoparticles deposited with wet impregnation followed by calcination and reduction. In the hydrogen generation tests the N-doped samples were clearly outperforming their un-doped counterparts showing remarkable efficiency not only under UV-B but also with UV-A illumination. Applying 100 mg catalyst (N-doped TiO2 nanofiber decorated with Pt nanoparticles) in 1 L water-ethanol mixture the H2 evolution rates were as high as 700 μmol/h (UV-A) and 2250 μmol/h (UV-B) corresponding to photo energy percentages of ~3.6% and ~12.3%, respectively.
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| 10. |
- Wu, Ming-Chung, et al.
(författare)
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Photo-Kelvin probe force microscopy for photocatalytic performance characterization of single filament of TiO2 nanofiber photocatalysts
- 2013
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Ingår i: Journal of Materials Chemistry A. - : Royal Society of Chemistry (RSC). - 2050-7488 .- 2050-7496. ; 1:18, s. 5715-5720
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Tidskriftsartikel (refereegranskat)abstract
- This is an in-depth study on the photocatalytic performance characterization for single filament of TiO2 nanofiber photocatalysts by the novel photo-Kelvin probe force microscopy technique (photo-KPFM) and first principles calculations. Three kinds of TiO2 nanofibers: anatase TiO2 nanofibers (anatase TiO2 NFs), nitrogen doped TiO2 nanofibers (N-TiO2 NFs), and nitrogen doped TiO2 nanofibers decorated with platinum nanoparticles (N-TiO2-Pt NFs) were investigated. The N-TiO2-Pt NFs exhibit the largest negative photo surface potential shift (-182 mV) as compared to anatase TiO2 NFs (-29 mV). The first-principles calculations based on density functional theory (CASTEP simulation software) indicate that the significant photo surface potential shift obtained by adding nitrogen and platinum into TiO2 NFs is induced by two mechanisms: (1) enhancement in absorbance to increase exciton generation and (2) decreased charge recombination to increase surface charge. These changes in the photo surface potential of various TiO2 nanofibers are closely correlated with their photocatalytic activity. Thus, this novel photo-KPFM provides a useful technique to easily monitor the photocatalytic capability of materials in the development of high performance photocatalysts.
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