| 41. |
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| 42. |
- Skibola, Christine F, et al.
(författare)
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Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.
- 2014
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 95:4, s. 462-471
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWASs) of follicular lymphoma (FL) have previously identified human leukocyte antigen (HLA) gene variants. To identify additional FL susceptibility loci, we conducted a large-scale two-stage GWAS in 4,523 case subjects and 13,344 control subjects of European ancestry. Five non-HLA loci were associated with FL risk: 11q23.3 (rs4938573, p = 5.79 × 10(-20)) near CXCR5; 11q24.3 (rs4937362, p = 6.76 × 10(-11)) near ETS1; 3q28 (rs6444305, p = 1.10 × 10(-10)) in LPP; 18q21.33 (rs17749561, p = 8.28 × 10(-10)) near BCL2; and 8q24.21 (rs13254990, p = 1.06 × 10(-8)) near PVT1. In an analysis of the HLA region, we identified four linked HLA-DRβ1 multiallelic amino acids at positions 11, 13, 28, and 30 that were associated with FL risk (pomnibus = 4.20 × 10(-67) to 2.67 × 10(-70)). Additional independent signals included rs17203612 in HLA class II (odds ratio [ORper-allele] = 1.44; p = 4.59 × 10(-16)) and rs3130437 in HLA class I (ORper-allele = 1.23; p = 8.23 × 10(-9)). Our findings further expand the number of loci associated with FL and provide evidence that multiple common variants outside the HLA region make a significant contribution to FL risk.
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| 43. |
- Sung, Yun Ju, et al.
(författare)
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A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure
- 2019
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Ingår i: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 28:15, s. 2615-2633
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Tidskriftsartikel (refereegranskat)abstract
- Elevated blood pressure (BP), a leading cause of global morbidity and mortality, is influenced by both genetic and lifestyle factors. Cigarette smoking is one such lifestyle factor. Across five ancestries, we performed a genome-wide gene–smoking interaction study of mean arterial pressure (MAP) and pulse pressure (PP) in 129 913 individuals in stage 1 and follow-up analysis in 480 178 additional individuals in stage 2. We report here 136 loci significantly associated with MAP and/or PP. Of these, 61 were previously published through main-effect analysis of BP traits, 37 were recently reported by us for systolic BP and/or diastolic BP through gene–smoking interaction analysis and 38 were newly identified (P < 5 × 10−8, false discovery rate < 0.05). We also identified nine new signals near known loci. Of the 136 loci, 8 showed significant interaction with smoking status. They include CSMD1 previously reported for insulin resistance and BP in the spontaneously hypertensive rats. Many of the 38 new loci show biologic plausibility for a role in BP regulation. SLC26A7 encodes a chloride/bicarbonate exchanger expressed in the renal outer medullary collecting duct. AVPR1A is widely expressed, including in vascular smooth muscle cells, kidney, myocardium and brain. FHAD1 is a long non-coding RNA overexpressed in heart failure. TMEM51 was associated with contractile function in cardiomyocytes. CASP9 plays a central role in cardiomyocyte apoptosis. Identified only in African ancestry were 30 novel loci. Our findings highlight the value of multi-ancestry investigations, particularly in studies of interaction with lifestyle factors, where genomic and lifestyle differences may contribute to novel findings.
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| 44. |
- Tang, Hu, et al.
(författare)
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Boron-Rich Molybdenum Boride with Unusual Short-Range Vacancy Ordering, Anisotropic Hardness, and Superconductivity
- 2020
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Ingår i: Chemistry of Materials. - : AMER CHEMICAL SOC. - 0897-4756 .- 1520-5002. ; 32:1, s. 459-467
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Tidskriftsartikel (refereegranskat)abstract
- Determination of the structures of materials involving more light elements such as boron-rich compounds is challenging and technically important in understanding their varied compositions and superior functionalities. Here we resolve the long-standing uncertainties in structure and composition about the highest boride (termed MoB4, Mo1-xB3, or MoB3) through the rapid formation of large sized boron-rich molybdenum boride under pressure. Using high-quality single-crystal X-ray diffraction analysis and aberration-corrected scanning transmission electron microscopy, we reveal that boron-rich molybdenum boride with a composition of Mo0.757B3 exhibits P6(3)/mmc symmetry with a partial occupancy of 0.514 in 211 Mo sites (Mol), and direct observations reveal the short-range ordering of cation vacancies in (010) crystal planes. Large anisotropic Young's moduli and Vickers hardness are seen for Mo0.757B3, which may be attributed by its two-dimensional boron distributions. Mo0.757B3 is also found to be superconducting with a transition temperature (T-c) of 2.4 K, which was confirmed by measurements of resistivity and magnetic susceptibility. Theoretical calculations suggest that the partial occupancy of Mo atoms plays a crucial role in the emergence of superconductivity.
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| 45. |
- Tian, Chao, et al.
(författare)
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Overexpression of connective tissue growth factor WISP-1 in Chinese primary rectal cancer patients
- 2007
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Ingår i: World Journal of Gastroenterology. - 1007-9327 .- 2219-2840. ; 13:28, s. 3878-3882
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Tidskriftsartikel (refereegranskat)abstract
- Aim: To clarify the expression change of Wnt-induced secreted protein-1 (WISP-1) in human rectal cancer and to determine whether it is correlated with invasion and metastasis of human rectal cancer. Methods: Eighty-six paired samples of rectal cancer and surgically resected distant normal rectal tissue were collected and allocated into cancer group and control group respectively. WISP-1 mRNA was detected by relative quantitative real-time RT-PCR and WISP-1 protein was examined by immunohistochemical staining. Results: WISP-1 gene overexpression was found in 65% (56/86) primary rectal cancers, 2-30 times that of the level in normal matched rectal tissues (P = 0.001). The mRNA expression level was correlated with Duke's staging, histological differentiation grade and lymph node status. The WISP-1 protein expression was in accordance with mRNA expression level. The positive degree of immunohistochemical staining in the cancer group (1.40 ± 0.35) was different from that in control group (1.04 ± 0.08, P < 0.001). Moreover, in cancer group the positive staining degree in high-level mRNA cancers (1.46 ± 0.37, n = 56) was higher than that in low-level mRNA (1.28 ± 0.28, n = 30, P = 0.018). Conclusion: Aberrant levels of WISP-1 expression may play a role in rectal tumorigenesis. WISP-1 may be used as a specific clinical diagnosis and prognosis marker in rectal cancer. © 2007 WJG. All rights reserved.
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| 46. |
- Vijai, Joseph, et al.
(författare)
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A genome-wide association study of marginal zone lymphoma shows association to the HLA region
- 2015
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 6
-
Tidskriftsartikel (refereegranskat)abstract
- Marginal zone lymphoma (MZL) is the third most common subtype of B-cell non-Hodgkin lymphoma. Here we perform a two-stage GWAS of 1,281 MZL cases and 7,127 controls of European ancestry and identify two independent loci near BTNL2 (rs9461741, P - 3.95 x 10(-15)) and HLA-B (rs2922994, P - 2.43 x 10(-9)) in the HLA region significantly associated with MZL risk. This is the first evidence that genetic variation in the major histocompatibility complex influences MZL susceptibility.
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| 47. |
- Wang, Anqi, et al.
(författare)
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Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
- 2023
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Ingår i: Nature Genetics. - : Springer Nature. - 1061-4036 .- 1546-1718. ; 55:12, s. 2065-2074
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Tidskriftsartikel (refereegranskat)abstract
- The transferability and clinical value of genetic risk scores (GRSs) across populations remain limited due to an imbalance in genetic studies across ancestrally diverse populations. Here we conducted a multi-ancestry genome-wide association study of 156,319 prostate cancer cases and 788,443 controls of European, African, Asian and Hispanic men, reflecting a 57% increase in the number of non-European cases over previous prostate cancer genome-wide association studies. We identified 187 novel risk variants for prostate cancer, increasing the total number of risk variants to 451. An externally replicated multi-ancestry GRS was associated with risk that ranged from 1.8 (per standard deviation) in African ancestry men to 2.2 in European ancestry men. The GRS was associated with a greater risk of aggressive versus non-aggressive disease in men of African ancestry (P = 0.03). Our study presents novel prostate cancer susceptibility loci and a GRS with effective risk stratification across ancestry groups.
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| 48. |
- Wang, Jin, et al.
(författare)
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Conjugated heat transfer analysis of a film cooling passage with turbulator ribs
- 2016
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Ingår i: Heat Transfer Research. - 1064-2285. ; 47:2, s. 89-103
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Tidskriftsartikel (refereegranskat)abstract
- In this study, the adiabatic film cooling effectiveness and conjugate heat transfer characteristics for a circular hole are investigated numerically. Seven turbulator ribs are located on the internal wall, and a film cooling hole between two adjacent ribs has an inclination angle of 30°. The secondary flow rate is affected by the internal channel flow velocity, and the external film cooling is combined with the internal channel flow conditions. In the conjugate heat transfer research, two different plate materials are considered to analyze the heat conduction characteristics. The results show that the turbulator ribs enhance the downstream heat transfer and provide a more extensive coverage area and effective cooling protection. More blade-wall heat is transferred by heat conduction, which makes the area-average wall temperature for the high thermal conductivity case to decrease along the secondary flow direction. The wall temperature distribution and film cooling effectiveness are affected significantly by heat conduction.
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| 49. |
- Wang, Kun, et al.
(författare)
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Distributed Energy Management for Vehicle-to-Grid Networks
- 2017
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Ingår i: IEEE Network. - Piscataway, NJ : IEEE. - 0890-8044 .- 1558-156X. ; 31:2, s. 22-28
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Tidskriftsartikel (refereegranskat)abstract
- Making full use of V2G services, EVs with batteries may assist the smart grid in alleviating peaks of energy consumption. Aiming to develop a systematic understanding of the interplay between smart grid and EVs, an architecture for the V2G networks with the EV aggregator is designed to maintain the balance between energy suppliers (the grid side) and consumers (the EV side). We propose a combined control and communication approach considering distributed features and vehicle preferences in order to ensure efficient energy transfer. In our model, the integrated communication and control unit can achieve realtime and intelligent management with the logic controller and collected data. On the consumers' side, we theoretically analyze how to satisfy the charging constraints that we incorporate in the form of willingness to pay, and propose a distributed framework to coordinate the energy delivery behaviors for satisfying service demands. Moreover, illustrative results indicate that the proposed approach can yield higher revenue than the conventional pricing mechanism in V2G networks.
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| 50. |
- Wang, Yufei, et al.
(författare)
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Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer
- 2014
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:7, s. 736-741
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Tidskriftsartikel (refereegranskat)abstract
- We conducted imputation to the 1000 Genomes Project of four genome-wide association studies of lung cancer in populations of European ancestry (11,348 cases and 15,861 controls) and genotyped an additional 10,246 cases and 38,295 controls for follow-up. We identified large-effect genome-wide associations for squamous lung cancer with the rare variants BRCA2 p.Lys3326X (rs11571833, odds ratio (OR) = 2.47, P = 4.74 x 10(-20)) and CHEK2 p.Ile157Thr (rs17879961, OR = 0.38, P = 1.27 x 10(-13)). We also showed an association between common variation at 3q28 (TP63, rs13314271, OR = 1.13, P = 7.22 x 10(-10)) and lung adenocarcinoma that had been previously reported only in Asians. These findings provide further evidence for inherited genetic susceptibility to lung cancer and its biological basis. Additionally, our analysis demonstrates that imputation can identify rare disease-causing variants with substantive effects on cancer risk from preexisting genome-wide association study data.
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