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- Schmit, Stephanie L, et al.
(författare)
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Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
- 2019
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Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 0027-8874 .- 1460-2105. ; 111:2, s. 146-157
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Tidskriftsartikel (refereegranskat)abstract
- Background: Previous genome-wide association studies (GWAS) have identified 42 loci (P < 5 × 10-8) associated with risk of colorectal cancer (CRC). Expanded consortium efforts facilitating the discovery of additional susceptibility loci may capture unexplained familial risk.Methods: We conducted a GWAS in European descent CRC cases and control subjects using a discovery-replication design, followed by examination of novel findings in a multiethnic sample (cumulative n = 163 315). In the discovery stage (36 948 case subjects/30 864 control subjects), we identified genetic variants with a minor allele frequency of 1% or greater associated with risk of CRC using logistic regression followed by a fixed-effects inverse variance weighted meta-analysis. All novel independent variants reaching genome-wide statistical significance (two-sided P < 5 × 10-8) were tested for replication in separate European ancestry samples (12 952 case subjects/48 383 control subjects). Next, we examined the generalizability of discovered variants in East Asians, African Americans, and Hispanics (12 085 case subjects/22 083 control subjects). Finally, we examined the contributions of novel risk variants to familial relative risk and examined the prediction capabilities of a polygenic risk score. All statistical tests were two-sided.Results: The discovery GWAS identified 11 variants associated with CRC at P < 5 × 10-8, of which nine (at 4q22.2/5p15.33/5p13.1/6p21.31/6p12.1/10q11.23/12q24.21/16q24.1/20q13.13) independently replicated at a P value of less than .05. Multiethnic follow-up supported the generalizability of discovery findings. These results demonstrated a 14.7% increase in familial relative risk explained by common risk alleles from 10.3% (95% confidence interval [CI] = 7.9% to 13.7%; known variants) to 11.9% (95% CI = 9.2% to 15.5%; known and novel variants). A polygenic risk score identified 4.3% of the population at an odds ratio for developing CRC of at least 2.0.Conclusions: This study provides insight into the architecture of common genetic variation contributing to CRC etiology and improves risk prediction for individualized screening.
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- Amhare, Abebe Feyissa, et al.
(författare)
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Magnitude and associated factors of perceived stress and its consequence among undergraduate students of Salale University, Ethiopia : cross-sectional study
- 2021
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Ingår i: Psychology, Health & Medicine. - : Routledge. - 1354-8506 .- 1465-3966. ; 26:10, s. 1230-1240
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Tidskriftsartikel (refereegranskat)abstract
- Excessive stress may have a negative impact on students' performance and learning ability. The aim of this study is to assess the magnitude and associated factors of perceived stress and its consequences among undergraduate students at Salale University, Ethiopia. A self-administered cross-sectional study has been conducted among 421 students of Salale University from April 1(st) to May 30(th), 2018. Multiple linear regressions and Spearman's rank correlation were applied. The overall response rate is 95.49 %. The mean perceived stress score (PSS-14) was 29.97 (standard deviation =7.48). Spearman correlation test has shown that perceived stress is significantly but negatively correlated with grade point average [r(s) = -0.25 (-0.334 - -0.153)] and year of studies [r(s) = -0.13 (-0.232 - -0.032)]. Increased perceived stress indices are significantly associated with female gender (P < 0.001), grade point average (P < 0.01), academic stressors (P < 0.01), and psychosocial stressors (P < 0.01). Mean of PSS-14 was high among health science students (31.42 +/- 9.37) than agricultural (30.78 +/- 7.69) and business students (28.04 +/- 5.43), however, there were no statistically significant differences. These findings are sufficient to allow a large-scale study to further help better understanding the stress-vulnerability factors of undergraduate students.
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- Deng, Huan, et al.
(författare)
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Altered Expression of the Hedgehog Pathway Proteins BMP2, BMP4, SHH, and IHH Involved in Knee Cartilage Damage of Patients With Osteoarthritis and Kashin-Beck Disease
- 2022
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Ingår i: Cartilage. - : Sage Publications. - 1947-6035 .- 1947-6043. ; 13:1
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To investigate the expression of Hedgehog (HH) signaling pathway proteins in knee articular cartilage from Kashin-Beck disease (KBD) and osteoarthritis (OA) patients.METHODS: Knee articular cartilage samples were collected from normal (N), OA, and KBD adults (aged 38-60 years) and divided into 3 groups with 6 subjects in each group. The localization of the HH pathway proteins bone morphogenetic protein 2 (BMP2), bone morphogenetic protein 4 (BMP4), Sonic hedgehog (SHH), and Indian hedgehog (IHH) was observed with the microscope after immunohistochemical (IHC) staining. Positive staining cell rates of each proteins were compared.RESULTS: The strongest stainings of all proteins were observed in the middle zones of all 3 groups. The positive staining rates of BMP4 and IHH were significantly lower in the OA and KBD groups than those in the N group in all 3 zones. The positive staining rates of BMP2 and SHH tend to be lower in the OA and KBD groups than those in the N group in the deep zone, while higher in the OA and KBD groups than those in the N group in superficial and middle zones.CONCLUSIONS: Altered expression of the HH pathway proteins BMP2, BMP4, SHH, and IHH was found in OA and KBD articular cartilage. There seemed to be a compensatory effect between SHH and IHH in cartilage damage. Further studies on the pathogenesis of OA and KBD may be carried out from these aspects in the future.
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- Deng, Huan, et al.
(författare)
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Progress of selenium deficiency in the pathogenesis of arthropathies and selenium supplement for their treatment
- 2022
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Ingår i: Biological Trace Element Research. - : Springer Nature. - 0163-4984 .- 1559-0720. ; 200, s. 4238-4249
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Forskningsöversikt (refereegranskat)abstract
- Selenium, an essential trace element for human health, exerts an indispensable effect in maintaining physiological homeostasis and functions in the body. Selenium deficiency is associated with arthropathies, such as Kashin-Beck disease, rheumatoid arthritis, osteoarthritis, and osteoporosis. Selenium deficiency mainly affects the normal physiological state of bone and cartilage through oxidative stress reaction and immune reaction. This review aims to explore the role of selenium deficiency and its mechanisms existed in the pathogenesis of arthropathies. Meanwhile, this review also summarized various experiments to highlight the crucial functions of selenium in maintaining the homeostasis of bone and cartilage.
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- Donahue, Mary, et al.
(författare)
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Tailoring PEDOT properties for applications in bioelectronics
- 2020
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Ingår i: Materials science & engineering. R, Reports. - : Elsevier. - 0927-796X .- 1879-212X. ; 140
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Tidskriftsartikel (refereegranskat)abstract
- Resulting from its wide range of beneficial properties, the conjugated conducting polymer poly(3,4‐ethylenedioxythiophene) (PEDOT) is a promising material in a number of emerging applications. These material properties, particularly promising in the field of bioelectronics, include its well‐known high‐degree of mechanical flexibility, stability, and high conductivity. However, perhaps the most advantageous property is its ease of fabrication: namely, low‐cost and straight‐forward deposition processes. PEDOT processing is generally carried out at low temperatures with simple deposition techniques, allowing for significant customization of the material properties through, as highlighted in this review, both process parameter variation and the addition of numerous additives. Here we aim to review the role of PEDOT in addressing an assortment of mechanical and electronic requirements as a function of the conditions used to cast or polymerize the films, and the addition of additives such as surfactants and secondary dopants. Contemporary bioelectronic research examples investigating and utilizing the effects of these modifications will be highlighted.
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- Faber, Zachary J, et al.
(författare)
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The genomic landscape of core-binding factor acute myeloid leukemias
- 2016
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 48, s. 1551-1556
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Tidskriftsartikel (refereegranskat)abstract
- Acute myeloid leukemia (AML) comprises a heterogeneous group of leukemias frequently defined by recurrent cytogenetic abnormalities, including rearrangements involving the core-binding factor (CBF) transcriptional complex. To better understand the genomic landscape of CBF-AMLs, we analyzed both pediatric (n = 87) and adult (n = 78) samples, including cases with RUNX1-RUNX1T1 (n = 85) or CBFB-MYH11 (n = 80) rearrangements, by whole-genome or whole-exome sequencing. In addition to known mutations in the Ras pathway, we identified recurrent stabilizing mutations in CCND2, suggesting a previously unappreciated cooperating pathway in CBF-AML. Outside of signaling alterations, RUNX1-RUNX1T1 and CBFB-MYH11 AMLs demonstrated remarkably different spectra of cooperating mutations, as RUNX1-RUNX1T1 cases harbored recurrent mutations in DHX15 and ZBTB7A, as well as an enrichment of mutations in epigenetic regulators, including ASXL2 and the cohesin complex. This detailed analysis provides insights into the pathogenesis and development of CBF-AML, while highlighting dramatic differences in the landscapes of cooperating mutations for these related AML subtypes.
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