Displaying publications 1 - 20 of 37 in total

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  1. Cai Q, Zhang B, Sung H, Low SK, Kweon SS, Lu W, et al.
    Nat Genet, 2014 Aug;46(8):886-90.
    PMID: 25038754 DOI: 10.1038/ng.3041
    In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified 3 genetic loci newly associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H11A gene; P=8.82×10(-9)), rs10474352 at 5q14.3 (near the ARRDC3 gene; P=1.67×10(-9)) and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene; P=4.25×10(-8)). We replicated these associations in 16,003 cases and 41,335 controls of European ancestry (P=0.030, 0.004 and 0.010, respectively). Data from the ENCODE Project suggest that variants rs4951011 and rs10474352 might be located in an enhancer region and transcription factor binding sites, respectively. This study provides additional insights into the genetics and biology of breast cancer.
  2. Chen Y, Chen Y, Shi W, Hu S, Huang Q, Liu GS, et al.
    Biosens Bioelectron, 2022 Feb 15;198:113787.
    PMID: 34864241 DOI: 10.1016/j.bios.2021.113787
    High sensitivity and capturing ratio are strongly demanded for surface plasmon resonance (SPR) sensors when applied in detection of small molecules. Herein, an SPR sensor is combined with a novel smart material, namely, MoS2 nanoflowers (MNFs), to demonstrate programmable adsorption/desorption of small bipolar molecules, i.e., amino acids. The MNFs overcoated on the plasmonic gold layer increase the sensitivity by 25% compared to an unmodified SPR sensor, because of the electric field enhancement at the gold surface. Furthermore, as the MNFs have rich edge sites and negatively charged surfaces, the MNF-SPR sensors exhibit not only much higher bipolar-molecule adsorption capability, but also efficient desorption of these molecules. It is demonstrated that the MNF-SPR sensors enable controllable detection of amino acids by adjusting solution pH according to their isoelectric points. In addition, the MNFs decorated on the plasmonic interface can be as nanostructure frameworks and modified with antibody, which allows for specific detection of proteins. This novel SPR sensor provides a new simple strategy for pre-screening of amino acid disorders in blood plasma and a universal high-sensitive platform for immunoassay.
  3. Ding Z, Jiang F, Shi J, Wang Y, He M, Tan CP, et al.
    Mol Nutr Food Res, 2023 Jan;67(2):e2200508.
    PMID: 36382382 DOI: 10.1002/mnfr.202200508
    SCOPE: Molecular networking (MN) analysis intends to provide chemical insight of untargeted mass spectrometry (MS) data to the user's underlying biological questions. Foodomics is the study of chemical compounds in food using advanced omics methods. In this study, an MS-MN-based foodomics approach is developed to investigate the composition and anti-obesity activity of cannabinoids in hemp oil.

    METHODS AND RESULTS: A total of 16 cannabinoids are determined in optimized microwave pretreatment of hemp oil using the developed approach. Untargeted metabolomics analysis reveals that cannabinoid extract (CE) and its major constituent (cannabidiol, CBD), can alleviate high glucose-induced increases in lipids and carbohydrates, and decreases in amino acid and nucleic acid. Moreover, CE and CBD are also found to suppress the expression levels of mdt-15, sbp-1, fat-5, fat-6, fat-7, daf-2, and elevate the expression level of daf-1, daf-7, daf-16, sod-3, gst-4, lipl-4, resulting in the decrease of lipid synthesis and the enhance of kinetism. Canonical correspondence analysis (CCA) uncovers strong associations between specific metabolic alterations and gene expression levels.

    CONCLUSION: These findings from this exploratory study offer a new insight into the roles of cannabinoids in the treatment of obesity and related complications.

  4. Fokkens WJ, Lund VJ, Hopkins C, Hellings PW, Kern R, Reitsma S, et al.
    Rhinology, 2020 Feb 20;58(Suppl S29):1-464.
    PMID: 32077450 DOI: 10.4193/Rhin20.600
    The European Position Paper on Rhinosinusitis and Nasal Polyps 2020 is the update of similar evidence based position papers published in 2005 and 2007 and 2012. The core objective of the EPOS2020 guideline is to provide revised, up-to-date and clear evidence-based recommendations and integrated care pathways in ARS and CRS. EPOS2020 provides an update on the literature published and studies undertaken in the eight years since the EPOS2012 position paper was published and addresses areas not extensively covered in EPOS2012 such as paediatric CRS and sinus surgery. EPOS2020 also involves new stakeholders, including pharmacists and patients, and addresses new target users who have become more involved in the management and treatment of rhinosinusitis since the publication of the last EPOS document, including pharmacists, nurses, specialised care givers and indeed patients themselves, who employ increasing self-management of their condition using over the counter treatments. The document provides suggestions for future research in this area and offers updated guidance for definitions and outcome measurements in research in different settings. EPOS2020 contains chapters on definitions and classification where we have defined a large number of terms and indicated preferred terms. A new classification of CRS into primary and secondary CRS and further division into localized and diffuse disease, based on anatomic distribution is proposed. There are extensive chapters on epidemiology and predisposing factors, inflammatory mechanisms, (differential) diagnosis of facial pain, allergic rhinitis, genetics, cystic fibrosis, aspirin exacerbated respiratory disease, immunodeficiencies, allergic fungal rhinosinusitis and the relationship between upper and lower airways. The chapters on paediatric acute and chronic rhinosinusitis are totally rewritten. All available evidence for the management of acute rhinosinusitis and chronic rhinosinusitis with or without nasal polyps in adults and children is systematically reviewed and integrated care pathways based on the evidence are proposed. Despite considerable increases in the amount of quality publications in recent years, a large number of practical clinical questions remain. It was agreed that the best way to address these was to conduct a Delphi exercise . The results have been integrated into the respective sections. Last but not least, advice for patients and pharmacists and a new list of research needs are included. The full document can be downloaded for free on the website of this journal: http://www.rhinologyjournal.com.
  5. Glanville KP, Coleman JRI, Hanscombe KB, Euesden J, Choi SW, Purves KL, et al.
    Biol Psychiatry, 2020 03 01;87(5):419-430.
    PMID: 31570195 DOI: 10.1016/j.biopsych.2019.06.031
    BACKGROUND: The prevalence of depression is higher in individuals with autoimmune diseases, but the mechanisms underlying the observed comorbidities are unknown. Shared genetic etiology is a plausible explanation for the overlap, and in this study we tested whether genetic variation in the major histocompatibility complex (MHC), which is associated with risk for autoimmune diseases, is also associated with risk for depression.

    METHODS: We fine-mapped the classical MHC (chr6: 29.6-33.1 Mb), imputing 216 human leukocyte antigen (HLA) alleles and 4 complement component 4 (C4) haplotypes in studies from the Psychiatric Genomics Consortium Major Depressive Disorder Working Group and the UK Biobank. The total sample size was 45,149 depression cases and 86,698 controls. We tested for association between depression status and imputed MHC variants, applying both a region-wide significance threshold (3.9 × 10-6) and a candidate threshold (1.6 × 10-4).

    RESULTS: No HLA alleles or C4 haplotypes were associated with depression at the region-wide threshold. HLA-B*08:01 was associated with modest protection for depression at the candidate threshold for testing in HLA genes in the meta-analysis (odds ratio = 0.98, 95% confidence interval = 0.97-0.99).

    CONCLUSIONS: We found no evidence that an increased risk for depression was conferred by HLA alleles, which play a major role in the genetic susceptibility to autoimmune diseases, or C4 haplotypes, which are strongly associated with schizophrenia. These results suggest that any HLA or C4 variants associated with depression either are rare or have very modest effect sizes.

  6. Guo X, Long J, Zeng C, Michailidou K, Ghoussaini M, Bolla MK, et al.
    Cancer Epidemiol Biomarkers Prev, 2015 Nov;24(11):1680-91.
    PMID: 26354892 DOI: 10.1158/1055-9965.EPI-15-0363
    BACKGROUND: A recent association study identified a common variant (rs9790517) at 4q24 to be associated with breast cancer risk. Independent association signals and potential functional variants in this locus have not been explored.

    METHODS: We conducted a fine-mapping analysis in 55,540 breast cancer cases and 51,168 controls from the Breast Cancer Association Consortium.

    RESULTS: Conditional analyses identified two independent association signals among women of European ancestry, represented by rs9790517 [conditional P = 2.51 × 10(-4); OR, 1.04; 95% confidence interval (CI), 1.02-1.07] and rs77928427 (P = 1.86 × 10(-4); OR, 1.04; 95% CI, 1.02-1.07). Functional annotation using data from the Encyclopedia of DNA Elements (ENCODE) project revealed two putative functional variants, rs62331150 and rs73838678 in linkage disequilibrium (LD) with rs9790517 (r(2) ≥ 0.90) residing in the active promoter or enhancer, respectively, of the nearest gene, TET2. Both variants are located in DNase I hypersensitivity and transcription factor-binding sites. Using data from both The Cancer Genome Atlas (TCGA) and Molecular Taxonomy of Breast Cancer International Consortium (METABRIC), we showed that rs62331150 was associated with level of expression of TET2 in breast normal and tumor tissue.

    CONCLUSION: Our study identified two independent association signals at 4q24 in relation to breast cancer risk and suggested that observed association in this locus may be mediated through the regulation of TET2.

    IMPACT: Fine-mapping study with large sample size warranted for identification of independent loci for breast cancer risk.

  7. He M, Nian B, Shi J, Sun X, Du R, Tan CP, et al.
    Food Funct, 2022 Jan 04;13(1):270-279.
    PMID: 34888592 DOI: 10.1039/d1fo01507a
    Extraction technology can influence the vegetable oil functional quality. Polyphenols in rapeseed oil have been proved to be beneficial for cardiovascular health. In this study, we evaluated the effect of extraction methods on the functional quality of rapeseed oil from the perspective of phenolic compounds. The results showed that hot pressing produces the highest amount of phenolic compounds in rapeseed oil. Its most abundant phenolic compound, sinapine (9.18 μg g-1), showed the highest activity in inhibiting anaerobic choline metabolism with an EC50 value of 1.9 mM, whose downstream products are related to cardiovascular diseases. Molecular docking and molecular dynamics (MD) simulations revealed that sinapine exhibits good binding affinity toward CutC, and CutC-sinapine is a stable complex with fewer conformational fluctuations and similar tightness. Taken together, hot pressing can be considered the best extraction method for rapeseed oil from the perspective of phenolic compounds.
  8. Klionsky DJ, Abdel-Aziz AK, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, et al.
    Autophagy, 2021 Jan;17(1):1-382.
    PMID: 33634751 DOI: 10.1080/15548627.2020.1797280
    In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Thus, it is important to formulate on a regular basis updated guidelines for monitoring autophagy in different organisms. Despite numerous reviews, there continues to be confusion regarding acceptable methods to evaluate autophagy, especially in multicellular eukaryotes. Here, we present a set of guidelines for investigators to select and interpret methods to examine autophagy and related processes, and for reviewers to provide realistic and reasonable critiques of reports that are focused on these processes. These guidelines are not meant to be a dogmatic set of rules, because the appropriateness of any assay largely depends on the question being asked and the system being used. Moreover, no individual assay is perfect for every situation, calling for the use of multiple techniques to properly monitor autophagy in each experimental setting. Finally, several core components of the autophagy machinery have been implicated in distinct autophagic processes (canonical and noncanonical autophagy), implying that genetic approaches to block autophagy should rely on targeting two or more autophagy-related genes that ideally participate in distinct steps of the pathway. Along similar lines, because multiple proteins involved in autophagy also regulate other cellular pathways including apoptosis, not all of them can be used as a specific marker for bona fide autophagic responses. Here, we critically discuss current methods of assessing autophagy and the information they can, or cannot, provide. Our ultimate goal is to encourage intellectual and technical innovation in the field.
  9. Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, et al.
    Autophagy, 2016;12(1):1-222.
    PMID: 26799652 DOI: 10.1080/15548627.2015.1100356
  10. Lei J, He Y, Zhu S, Shi J, Tan CP, Liu Y, et al.
    Analyst, 2024 Jan 29;149(3):751-760.
    PMID: 38194259 DOI: 10.1039/d3an01536j
    Polyunsaturated fatty acids (PUFAs), such as arachidonic acid (ARA), eicosapentaenoic acid (EPA), and docosahexaenoic acid (DHA), play an important role in the nutritional value of milk lipids. However, a comprehensive analysis of PUFAs and their esters in milk is still scarce. In this study, we developed a novel pseudotargeted lipidomics approach, named SpecLipIDA, for determining PUFA lipids in milk. Triglycerides (TGs) and phospholipids (PLs) were separated using NH2 cartridges, and mass spectrometry data in the information-dependent acquisition (IDA) mode were preprocessed by MS-DIAL, leading to improved identification in subsequent targeted analysis. The target matching algorithm, based on specific lipid cleavage patterns, demonstrated enhanced identification of PUFA lipids compared to the lipid annotations provided by MS-DIAL and GNPS. The approach was applied to identify PUFA lipids in various milk samples, resulting in the detection of a total of 115 PUFA lipids. The results revealed distinct differences in PUFA lipids among different samples, with 44 PUFA lipids significantly contributing to these differences. Our study indicated that SpecLipIDA is an efficient method for rapidly and specifically screening PUFA lipids.
  11. Li X, Zhang F, Shi J, Chan NW, Cai Y, Cheng C, et al.
    Environ Sci Pollut Res Int, 2024 Feb;31(6):9333-9346.
    PMID: 38191729 DOI: 10.1007/s11356-023-31702-2
    As an inland dryland lake basin, the rivers and lakes within the Lake Bosten basin provide scarce but valuable water resources for a fragile environment and play a vital role in the development and sustainability of the local societies. Based on the Google Earth Engine (GEE) platform, combined with the geographic information system (GIS) and remote sensing (RS) technology, we used the index WI2019 to extract and analyze the water body area changes of the Bosten Lake basin from 2000 to 2021 when the threshold value is -0.25 and the slope mask is 8°. The driving factors of water body area changes were also analyzed using the partial least squares-structural equation model (PLS-SEM). The result shows that in the last 20 years, the area of water bodies in the Bosten Lake basin generally fluctuated during the dry, wet, and permanent seasons, with a decreasing trend from 2000 to 2015 and an increasing trend between 2015 and 2019 followed by a steadily decreasing trend afterward. The main driver of the change in wet season water bodies in the Bosten Lake basin is the climatic factors, with anthropogenic factors having a greater influence on the water body area of dry season and permanent season than that of wet season. Our study achieved an accurate and convenient extraction of water body area and drivers, providing up-to-date information to fully understand the spatial and temporal variation of surface water body area and its drivers in the basin, which can be used to effectively manage water resources.
  12. Li Z, Zhang F, Shi J, Chan NW, Tan ML, Kung HT, et al.
    Mar Pollut Bull, 2023 Nov;196:115653.
    PMID: 37879130 DOI: 10.1016/j.marpolbul.2023.115653
    Chromophoric dissolved organic matter (CDOM) occupies a critical part in biogeochemistry and energy flux of aquatic ecosystems. CDOM research spans in many fields, including chemistry, marine environment, biomass cycling, physics, hydrology, and climate change. In recent years, a series of remarkable research milestone have been achieved. On the basis of reviewing the research process of CDOM, combined with a bibliometric analysis, this study aims to provide a comprehensive review of the development and applications of remote sensing in monitoring CDOM from 2003 to 2022. The findings show that remote sensing data plays an important role in CDOM research as proven with the increasing number of publications since 2003, particularly in China and the United States. Primary research areas have gradually changed from studying absorption and fluorescence properties to optimization of remote sensing inversion models in recent years. Since the composition of oceanic and freshwater bodies differs significantly, it is important to choose the appropriate inversion method for different types of water body. At present, the monitoring of CDOM mainly relies on a single sensor, but the fusion of images from different sensors can be considered a major research direction due to the complex characteristics of CDOM. Therefore, in the future, the characteristics of CDOM will be studied in depth inn combination with multi-source data and other application models, where inversion algorithms will be optimized, inversion algorithms with low dependence on measured data will be developed, and a transportable inversion model will be built to break the regional limitations of the model and to promote the development of CDOM research in a deeper and more comprehensive direction.
  13. Liang Z, Shi J, Wang C, Li J, Liang D, Yong EL, et al.
    Appl Environ Microbiol, 2020 11 10;86(23).
    PMID: 32948522 DOI: 10.1128/AEM.01920-20
    Pretreatment of waste-activated sludge (WAS) is an effective way to destabilize sludge floc structure and release organic matter for improving sludge digestion efficiency. Nonetheless, information on the impact of WAS pretreatment on digestion sludge microbiomes, as well as mechanistic insights into how sludge pretreatment improves digestion performance, remains elusive. In this study, a genome-centric metagenomic approach was employed to investigate the digestion sludge microbiome in four sludge digesters with different types of feeding sludge: WAS pretreated with 0.25 mol/liter alkaline/acid (APAD), WAS pretreated with 0.8 mol/liter alkaline/acid (HS-APAD), thermally pretreated WAS (thermal-AD), and fresh WAS (control-AD). We retrieved 254 metagenome-assembled genomes (MAGs) to identify the key functional populations involved in the methanogenic digestion process. These MAGs span 28 phyla, including 69 yet-to-be-cultivated lineages, and 30 novel lineages were characterized with metabolic potential associated with hydrolysis and fermentation. Interestingly, functional populations involving carbohydrate digestion were enriched in APAD and HS-APAD, while lineages related to protein and lipid fermentation were enriched in thermal-AD, corroborating the idea that different substrates are released from alkaline/acid and thermal pretreatments. Among the major functional populations (i.e., fermenters, syntrophic acetogens, and methanogens), significant correlations between genome sizes and abundance of the fermenters were observed, particularly in APAD and HS-APAD, which had improved digestion performance.IMPORTANCE Wastewater treatment generates large amounts of waste-activated sludge (WAS), which consists mainly of recalcitrant microbial cells and particulate organic matter. Though WAS pretreatment is an effective way to release sludge organic matter for subsequent digestion, detailed information on the impact of the sludge pretreatment on the digestion sludge microbiome remains scarce. Our study provides unprecedented genome-centric metagenomic insights into how WAS pretreatments change the digestion sludge microbiomes, as well as their metabolic networks. Moreover, digestion sludge microbiomes could be a unique source for exploring microbial dark matter. These results may inform future optimization of methanogenic sludge digestion and resource recovery.
  14. Liu B, Yang L, Shi J, Zhang S, Yalçınkaya Ç, Alshalif AF
    Environ Pollut, 2023 Jan 15;317:120839.
    PMID: 36493937 DOI: 10.1016/j.envpol.2022.120839
    Stabilizing/solidificating municipal solid waste incineration fly ash (MIFA) with cement is a common strategy, and it is critical to study the high-value utilization of MIFA in ordinary Portland cement (OPC) components. With this aim, binary-binding-system mortar was produced by partially replacing OPC (∼50%) with MIFA, and the effects of different curing regimes (steam curing and carbonation curing) on the properties of the cement mortar were studied. The results showed that the setting time of the cement paste was shorten with the increase of MIFA content, and steam curing accelerated the hardening of the mixture. Although the incorporation of MIFA reduced the strength of the mortar, compared to conventional curing method, steam curing and carbonation curing increased the 3-d strength of the mortar. For high-volume MIFA mortars, the CO2-cured samples had the highest long-term strength and lowest permeability. The incorporation of MIFA increased the initial porosity of the mortar, thereby significantly increasing the carbonation degree and crystallinity of the reaction product - CaCO3. Steam curing also further narrowed the difference in the hydration degree between MIFA-modified sample and plain paste, which may be due to the enhanced hydraulic reactivity of MIFA at high temperatures. Although the incorporation of MIFA increased the porosity of the mortar, this waste-derived SCM refined the bulk pore structure and decreased the interconnected porosity. Additionally, the heavy metal leaching contents of MIFA-modified mortars were all below 1%, which meet the requirements of Chinese standards. Compared with standard curing, steam curing and carbonation curing made the early-age and long-term performance of MIFA-modified mortar better, which can promote the efficient application of MIFA in OPC products.
  15. Liu C, Zhang F, Jim CY, Johnson VC, Tan ML, Shi J, et al.
    Sci Total Environ, 2023 Mar 29;878:163127.
    PMID: 37001663 DOI: 10.1016/j.scitotenv.2023.163127
    Suspended particulate matter (SPM) in the brackish Ebinur Lake of arid northwest China profoundly affect its water quality and watershed habitat quality. However, the actual driving mechanisms of the Lake's SPM changes remain unclear. Therefore, the purpose of this study is to explore the controlling factors driving the variability of SPM in the Ebinur Lake. This study constructed month-by-month SPM maps of Ebinur Lake based on time-series remote-sensing imageries and SPM inversion model. Thirty-four factors that might influence SPM changes were extracted, and the Partial Least Squares Structural Equation Modeling (PLS-SEM), suitable for complex relationships and factor interactions, was applied to identify the relative influence of each factor quantitatively. The results showed: (1) a clear increasing trend of SPM concentration in Ebinur Lake from 2011 to 2020; (2) that SPM changes were influenced by external and internal factors, explaining 48.2 % and 46.9 % of the changes, respectively; (3) that, to the external factors, meteorological factors exerted the greatest influence on SPM (relative contribution of 38.9 %); that, to the internal factors, water salinity imposed the greatest influence on SPM (relative contribution of 43.3 %); (4) that, among the meteorological factors, the measured variable Alashankou wind speed expressed the most significant positive effect on SPM (weighting coefficient of 0.894), and sulfate generated the strongest positive effect on SPM (weighting coefficient of 0.791) among the water salinity factors. Hence, the quantitative identification of drivers of SPM changes in Ebinur Lake could provide a new perspective to investigate the driving mechanisms of lake water quality in arid areas and inform their sustainable restoration and management.
  16. Lou Y, Shi J, Guo D, Qureshi AK, Song L
    Saudi J Biol Sci, 2017 May;24(4):803-807.
    PMID: 28490949 DOI: 10.1016/j.sjbs.2015.06.025
    Human glioma is a highly fatal tumor with a significant feature of immune suppression. The functions of PD-L1 refer to co-simulation and immune regulation. To investigate expression and functional activity of PD-L1 in human glioma cell in vivo and in vitro. Expressions of PD-L1mRNA and protein in the human glioma cell line were analyzed with quantitative RT-PCR and flow cytometer; and then expression of PD-L1 in tissue specimens of 10 glioma patients was treated with immunohistochemical analysis; glioma cell and allogeneic CD4+ and CD8+ T cells were co-cultured, and cytokine IFN-γ, IL-2 and IL-10 in cultured supernatant fluid were determined with ELISA; upon blocking the interaction between glioma cell and the immune cell with PD-L1 monoclonal antibody (5H1), surface markers on immune cells were analyzed using flow cytometer. All human glioma cell lines constitutively expressed PD-L1, and IFN-γ induced glioma cell to highly express PD-L1. It was shown through immunohistochemical analysis that glioma specimen expressed PD-L1, while expression of PD-L1 was not observed in normal tissue and normal human brain near the tumor location. The release of IFN-γ and IL-2 was inhibited, while IL-10 was increased slightly. Glioma cell may escape from immune recognition and injury with the help of PD-L1, which is a significant pathogenic mechanism of glioma.
  17. Maier R, Moser G, Chen GB, Ripke S, Cross-Disorder Working Group of the Psychiatric Genomics Consortium, Coryell W, et al.
    Am J Hum Genet, 2015 Feb 05;96(2):283-94.
    PMID: 25640677 DOI: 10.1016/j.ajhg.2014.12.006
    Genetic risk prediction has several potential applications in medical research and clinical practice and could be used, for example, to stratify a heterogeneous population of patients by their predicted genetic risk. However, for polygenic traits, such as psychiatric disorders, the accuracy of risk prediction is low. Here we use a multivariate linear mixed model and apply multi-trait genomic best linear unbiased prediction for genetic risk prediction. This method exploits correlations between disorders and simultaneously evaluates individual risk for each disorder. We show that the multivariate approach significantly increases the prediction accuracy for schizophrenia, bipolar disorder, and major depressive disorder in the discovery as well as in independent validation datasets. By grouping SNPs based on genome annotation and fitting multiple random effects, we show that the prediction accuracy could be further improved. The gain in prediction accuracy of the multivariate approach is equivalent to an increase in sample size of 34% for schizophrenia, 68% for bipolar disorder, and 76% for major depressive disorders using single trait models. Because our approach can be readily applied to any number of GWAS datasets of correlated traits, it is a flexible and powerful tool to maximize prediction accuracy. With current sample size, risk predictors are not useful in a clinical setting but already are a valuable research tool, for example in experimental designs comparing cases with high and low polygenic risk.
  18. Mullins N, Kang J, Campos AI, Coleman JRI, Edwards AC, Galfalvy H, et al.
    Biol Psychiatry, 2022 Feb 01;91(3):313-327.
    PMID: 34861974 DOI: 10.1016/j.biopsych.2021.05.029
    BACKGROUND: Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared and partially distinct from that of related psychiatric disorders.

    METHODS: We conducted a genome-wide association study (GWAS) of 29,782 suicide attempt (SA) cases and 519,961 controls in the International Suicide Genetics Consortium (ISGC). The GWAS of SA was conditioned on psychiatric disorders using GWAS summary statistics via multitrait-based conditional and joint analysis, to remove genetic effects on SA mediated by psychiatric disorders. We investigated the shared and divergent genetic architectures of SA, psychiatric disorders, and other known risk factors.

    RESULTS: Two loci reached genome-wide significance for SA: the major histocompatibility complex and an intergenic locus on chromosome 7, the latter of which remained associated with SA after conditioning on psychiatric disorders and replicated in an independent cohort from the Million Veteran Program. This locus has been implicated in risk-taking behavior, smoking, and insomnia. SA showed strong genetic correlation with psychiatric disorders, particularly major depression, and also with smoking, pain, risk-taking behavior, sleep disturbances, lower educational attainment, reproductive traits, lower socioeconomic status, and poorer general health. After conditioning on psychiatric disorders, the genetic correlations between SA and psychiatric disorders decreased, whereas those with nonpsychiatric traits remained largely unchanged.

    CONCLUSIONS: Our results identify a risk locus that contributes more strongly to SA than other phenotypes and suggest a shared underlying biology between SA and known risk factors that is not mediated by psychiatric disorders.

  19. Peyrot WJ, Lee SH, Milaneschi Y, Abdellaoui A, Byrne EM, Esko T, et al.
    Mol Psychiatry, 2015 Jun;20(6):735-43.
    PMID: 25917368 DOI: 10.1038/mp.2015.50
    An association between lower educational attainment (EA) and an increased risk for depression has been confirmed in various western countries. This study examines whether pleiotropic genetic effects contribute to this association. Therefore, data were analyzed from a total of 9662 major depressive disorder (MDD) cases and 14,949 controls (with no lifetime MDD diagnosis) from the Psychiatric Genomics Consortium with additional Dutch and Estonian data. The association of EA and MDD was assessed with logistic regression in 15,138 individuals indicating a significantly negative association in our sample with an odds ratio for MDD 0.78 (0.75-0.82) per standard deviation increase in EA. With data of 884,105 autosomal common single-nucleotide polymorphisms (SNPs), three methods were applied to test for pleiotropy between MDD and EA: (i) genetic profile risk scores (GPRS) derived from training data for EA (independent meta-analysis on ~120,000 subjects) and MDD (using a 10-fold leave-one-out procedure in the current sample), (ii) bivariate genomic-relationship-matrix restricted maximum likelihood (GREML) and (iii) SNP effect concordance analysis (SECA). With these methods, we found (i) that the EA-GPRS did not predict MDD status, and MDD-GPRS did not predict EA, (ii) a weak negative genetic correlation with bivariate GREML analyses, but this correlation was not consistently significant, (iii) no evidence for concordance of MDD and EA SNP effects with SECA analysis. To conclude, our study confirms an association of lower EA and MDD risk, but this association was not because of measurable pleiotropic genetic effects, which suggests that environmental factors could be involved, for example, socioeconomic status.
  20. Shen Q, Zeng X, Kong L, Sun X, Shi J, Wu Z, et al.
    Foods, 2023 Apr 01;12(7).
    PMID: 37048306 DOI: 10.3390/foods12071485
    Nitrite is a common color and flavor enhancer in fermented meat products, but its secondary amines may transfer to the carcinogen N-nitrosamines. This review focuses on the sources, degradation, limitations, and alteration techniques of nitrite. The transition among NO3- and NO2-, NH4+, and N2 constitutes the balance of nitrogen. Exogenous addition is the most common source of nitrite in fermented meat products, but it can also be produced by contamination and endogenous microbial synthesis. While nitrite is degraded by acids, enzymes, and other metabolites produced by lactic acid bacteria (LAB), four nitrite reductase enzymes play a leading role. At a deeper level, nitrite metabolism is primarily regulated by the genes found in these bacteria. By incorporating antioxidants, chromogenic agents, bacteriostats, LAB, or non-thermal plasma sterilization, the amount of nitrite supplied can be decreased, or even eliminated. Finally, the aim of producing low-nitrite fermented meat products is expected to be achieved.
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