| 1. |
- 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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| 2. |
- 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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| 3. |
- Wang, Bo-Yao, et al.
(författare)
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Nonlinear bandgap opening behavior of BN co-doped graphene
- 2016
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Ingår i: Carbon. - : Elsevier. - 0008-6223 .- 1873-3891. ; 107, s. 857-864
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Tidskriftsartikel (refereegranskat)abstract
- We have demonstrated a nonlinear behavior for the bandgap opening of doped graphene by controlling the concentration of B and N co-dopants. X-ray absorption and emission spectra reveal that the bandgap increases from 0 to 0.6 eV as the concentration of BN dopants is increased from 0 to 6%, while the bandgap closes when the doping concentration becomes 56%. This nonlinear behavior of bandgap opening of the BN-doped graphene depending on the BN concentrations is consistent with the valenceband photoemission spectroscopic measurements. The spatially resolved B, N and C K-edge scanning transmission x-ray microscopy and their x-ray absorption near- edge structure spectra all support the scenario of the development of h-BN-like domains at high concentrations of BN. Ab initio calculation, by taking into account of the strong correlation between the bandgap and the geometry/concentration of the dopant, has been performed with various BN-dopant nano-domains embedded in the graphene monolayer to verify the unique bandgap behavior. Based on the experimental measurements and ab initio calculation, we propose the progressive formation of a phase-separated zigzag-edged BN domain from BN quantum dots with increasing BN-dopant concentration to explain the extraordinary nonlinear behavior of bandgap opening of BN-doped graphene sheets. This study reveals a new way to engineer the bandgap of low-dimensional systems.
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| 4. |
- Huang, Wen-Yi, et al.
(författare)
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Effectiveness of using calligraphic activity to treat people with schizophrenia : a randomized controlled trial in Southern Taiwan
- 2022
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Ingår i: THERAPEUTIC ADVANCES IN CHRONIC DISEASE. - : Sage Publications. - 2040-6223 .- 2040-6231. ; 13
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Tidskriftsartikel (refereegranskat)abstract
- Background: Prior research has shown preliminary evidence that calligraphy activity improves various body functions and decreases severity of psychotic symptoms in individuals with schizophrenia. However, major limitations of earlier studies include small and heterogeneous samples. The current large-scale randomized controlled trial examined effects of calligraphy activity on cognition (including attention), emotions, psychotic symptoms, quality of life, and mood in people with schizophrenia. Methods: One-hundred-and-fifty patients with schizophrenia were randomly allocated to the treatment group (receiving calligraphy activity) or the control group (receiving general activity), both of which lasted for 24weeks (70 minutes per session; one session per week). Assessments were conducted at pretest, posttest, and three-month follow-up. The Montreal Cognitive Assessment, Chu's Attention Test, Depression, Anxiety, and Stress Scale, Positive and Negative Syndrome Scale, World Health Questionnaire on the Quality of Life-Brief Form, and Visual Analogue Scale were used. Results: Improved cognition and attention were found in both groups, although no group effects were shown. The treatment group appeared to show lower severity of positive symptoms at follow-up than posttest, whereas the control group appeared to show the opposite pattern. Improved mood was found in the treatment group. Conclusion: This study provides evidence regarding effects of calligraphy activity on increasing cognition and potentially decreasing severity of positive symptoms in patients with schizophrenia. Calligraphy activity can be incorporated in clinical occupational therapy and may be provided to supplement medication treatment.
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| 5. |
- Cheng, Yu Ting, et al.
(författare)
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Tuning atom-field interaction via phase shaping
- 2024
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Ingår i: Physical Review A. - 2469-9934 .- 2469-9926. ; 109:2
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Tidskriftsartikel (refereegranskat)abstract
- A coherent electromagnetic field can be described by its amplitude, frequency, and phase. All these properties can influence the interaction between the field and an atom. Here we demonstrate the phase shaping of microwaves that are scattered by a superconducting artificial atom coupled to the end of a semi-infinite one-dimensional transmission line. In particular, we input a weak exponentially rising pulse with phase modulation to a transmon qubit. We observe that atom-field interaction can be tuned from a nearly full interaction (interaction efficiency, i.e., amount of the field energy interacting with the atom, of 94.5 %) to effectively no interaction (interaction efficiency of 3.5 %).
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| 6. |
- Lin, Wei Ju, et al.
(författare)
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Deterministic Loading of Microwaves onto an Artificial Atom Using a Time-Reversed Waveform
- 2022
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Ingår i: Nano Letters. - : American Chemical Society (ACS). - 1530-6992 .- 1530-6984. ; 22:20, s. 8137-8142
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Tidskriftsartikel (refereegranskat)abstract
- Loading quantum information deterministically onto a quantum node is an important step toward a quantum network. Here, we demonstrate that coherent-state microwave photons with an optimal temporal waveform can be efficiently loaded onto a single superconducting artificial atom in a semi-infinite one-dimensional (1D) transmission-line waveguide. Using a weak coherent state (the number of photons (N) contained in the pulse ≪1) with an exponentially rising waveform, whose time constant matches the decoherence time of the artificial atom, we demonstrate a loading efficiency of 94.2% ± 0.7% from 1D semifree space to the artificial atom. The high loading efficiency is due to time-reversal symmetry: the overlap between the incoming wave and the time-reversed emitted wave is up to 97.1% ± 0.4%. Our results open up promising applications in realizing quantum networks based on waveguide quantum electrodynamics.
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