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| 5. |
- Zhang, Tiankai, et al.
(author)
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Ion-modulated radical doping of spiro-OMeTAD for more efficient and stable perovskite solar cells
- 2022
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In: Science. - : AMER ASSOC ADVANCEMENT SCIENCE. - 0036-8075 .- 1095-9203. ; 377:6605, s. 495-501
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Journal article (peer-reviewed)abstract
- Record power conversion efficiencies (PCEs) of perovskite solar cells (PSCs) have been obtained with the organic hole transporter 2,2,7,7-tetrakis(N,N-di-p-methoxyphenyl-amine)9,9-spirobifluorene (spiro-OMeTAD). Conventional doping of spiro-OMeTAD with hygroscopic lithium salts and volatile 4-tert-butylpyridine is a time-consuming process and also leads to poor device stability. We developed a new doping strategy for spiro-OMeTAD that avoids post-oxidation by using stable organic radicals as the dopant and ionic salts as the doping modulator (referred to as ion-modulated radical doping). We achieved PCEs of >25% and much-improved device stability under harsh conditions. The radicals provide hole polarons that instantly increase the conductivity and work function (WF), and ionic salts further modulate the WF by affecting the energetics of the hole polarons. This organic semiconductor doping strategy, which decouples conductivity and WF tunability, could inspire further optimization in other optoelectronic devices.
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| 6. |
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| 7. |
- Chen, XD, et al.
(author)
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Non-invasive early detection of cancer four years before conventional diagnosis using a blood test
- 2020
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In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1, s. 3475-
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Journal article (peer-reviewed)abstract
- Early detection has the potential to reduce cancer mortality, but an effective screening test must demonstrate asymptomatic cancer detection years before conventional diagnosis in a longitudinal study. In the Taizhou Longitudinal Study (TZL), 123,115 healthy subjects provided plasma samples for long-term storage and were then monitored for cancer occurrence. Here we report the preliminary results of PanSeer, a noninvasive blood test based on circulating tumor DNA methylation, on TZL plasma samples from 605 asymptomatic individuals, 191 of whom were later diagnosed with stomach, esophageal, colorectal, lung or liver cancer within four years of blood draw. We also assay plasma samples from an additional 223 cancer patients, plus 200 primary tumor and normal tissues. We show that PanSeer detects five common types of cancer in 88% (95% CI: 80–93%) of post-diagnosis patients with a specificity of 96% (95% CI: 93–98%), We also demonstrate that PanSeer detects cancer in 95% (95% CI: 89–98%) of asymptomatic individuals who were later diagnosed, though future longitudinal studies are required to confirm this result. These results demonstrate that cancer can be non-invasively detected up to four years before current standard of care.
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| 10. |
- Gao, Xindi, et al.
(author)
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Cryptococcal Hsf3 controls intramitochondrial ROS homeostasis by regulating the respiratory process
- 2022
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 13:1
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Journal article (peer-reviewed)abstract
- Mitochondrial quality control prevents accumulation of intramitochondrial-derived reactive oxygen species (mtROS), thereby protecting cells against DNA damage, genome instability, and programmed cell death. However, underlying mechanisms are incompletely understood, particularly in fungal species. Here, we show that Cryptococcus neoformans heat shock factor 3 (CnHsf3) exhibits an atypical function in regulating mtROS independent of the unfolded protein response. CnHsf3 acts in nuclei and mitochondria, and nuclear- and mitochondrial-targeting signals are required for its organelle-specific functions. It represses the expression of genes involved in the tricarboxylic acid cycle while promoting expression of genes involved in electron transfer chain. In addition, CnHsf3 responds to multiple intramitochondrial stresses; this response is mediated by oxidation of the cysteine residue on its DNA binding domain, which enhances DNA binding. Our results reveal a function of HSF proteins in regulating mtROS homeostasis that is independent of the unfolded protein response.
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| 11. |
- Guan, Tianfu, et al.
(author)
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Decoding the Self-Assembly Plasmonic Interface Structure in a PbS Colloidal Quantum Dot Solid for a Photodetector
- 2023
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In: ACS Nano. - : American Chemical Society (ACS). - 1936-0851 .- 1936-086X. ; 17:22, s. 23010-23019
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Journal article (peer-reviewed)abstract
- Hybrid plasmonic nanostructures have gained enormous attention in a variety of optoelectronic devices due to their surface plasmon resonance properties. Self-assembled hybrid metal/quantum dot (QD) architectures offer a means of coupling the properties of plasmonics and QDs to photodetectors, thereby modifying their functionality. The arrangement and localization of hybrid nanostructures have an impact on exciton trapping and light harvesting. Here, we present a hybrid structure consisting of self-assembled gold nanospheres (Au NSs) embedded in a solid matrix of PbS QDs for mapping the interface structures and the motion of charge carriers. Grazing-incidence small-angle X-ray scattering is utilized to analyze the localization and spacing of the Au NSs within the hybrid structure. Furthermore, by correlating the morphology of the Au NSs in the hybrid structure with the corresponding differences observed in the performance of photodetectors, we are able to determine the impact of interface charge carrier dynamics in the coupling structure. From the perspective of architecture, our study provides insights into the performance improvement of optoelectronic devices.
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| 13. |
- Jiang, YF, et al.
(author)
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Low Bone Mineral Density Is Not Associated with Subclinical Atherosclerosis: A Population-Based Study in Rural China
- 2018
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In: Cardiology. - : S. Karger AG. - 1421-9751 .- 0008-6312. ; 141:2, s. 78-87
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Journal article (peer-reviewed)abstract
- <b><i>Objectives:</i></b> Loss of bone mass may affect the progression of atherosclerosis. We investigated the relationship between low bone mineral density (BMD) and subclinical atherosclerosis in rural China. <b><i>Methods:</i></b> In total, 333 men and 421 postmenopausal women aged 55–65 years were enrolled. BMD was measured in the lumbar spine, femoral neck, and total hip using dual-energy X-ray absorptiometry. Subclinical atherosclerosis was defined as increased carotid artery intima-media thickness (CIMT ≥0.9 mm), the presence of carotid plaques, high brachial-ankle pulse wave velocity (baPWV ≥1,400 cm/s), and low ankle-brachial index (ABI ≤1). Binary logistic regression analyses were used to estimate the association between low BMD and subclinical atherosclerosis. <b><i>Results:</i></b> There was no significant difference in BMD between the normal group and the subclinical atherosclerosis group. After full adjustment for the relevant covariates, a boundary significant association was found between low BMD in the femoral neck and baPWV in postmenopausal women (odds ratio = 1.77, <i>p =</i> 0.049). After full adjustment, neither BMD nor low BMD were significantly associated with subclinical atherosclerosis in men or postmenopausal women. <b><i>Conclusions:</i></b> Low BMD is not associated with subclinical atherosclerosis in Chinese individuals aged 55–65 years resident in rural China.
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| 15. |
- Kooner, Jaspal S, et al.
(author)
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Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci.
- 2011
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 43:10
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Journal article (peer-reviewed)abstract
- We carried out a genome-wide association study of type-2 diabetes (T2D) in individuals of South Asian ancestry. Our discovery set included 5,561 individuals with T2D (cases) and 14,458 controls drawn from studies in London, Pakistan and Singapore. We identified 20 independent SNPs associated with T2D at P < 10(-4) for testing in a replication sample of 13,170 cases and 25,398 controls, also all of South Asian ancestry. In the combined analysis, we identified common genetic variants at six loci (GRB14, ST6GAL1, VPS26A, HMG20A, AP3S2 and HNF4A) newly associated with T2D (P = 4.1 × 10(-8) to P = 1.9 × 10(-11)). SNPs at GRB14 were also associated with insulin sensitivity (P = 5.0 × 10(-4)), and SNPs at ST6GAL1 and HNF4A were also associated with pancreatic beta-cell function (P = 0.02 and P = 0.001, respectively). Our findings provide additional insight into mechanisms underlying T2D and show the potential for new discovery from genetic association studies in South Asians, a population with increased susceptibility to T2D.
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| 16. |
- Lazar, Vladimir, et al.
(author)
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Integrated molecular portrait of non-small cell lung cancers
- 2013
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In: BMC Medical Genomics. - : Springer Science and Business Media LLC. - 1755-8794. ; 6:1, s. 53-
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Journal article (peer-reviewed)abstract
- Background: Non-small cell lung cancer (NSCLC), a leading cause of cancer deaths, represents a heterogeneous group of neoplasms, mostly comprising squamous cell carcinoma (SCC), adenocarcinoma (AC) and large-cell carcinoma (LCC). The objectives of this study were to utilize integrated genomic data including copy-number alteration, mRNA, microRNA expression and candidate-gene full sequencing data to characterize the molecular distinctions between AC and SCC. Methods: Comparative genomic hybridization followed by mutational analysis, gene expression and miRNA microarray profiling were performed on 123 paired tumor and non-tumor tissue samples from patients with NSCLC. Results: At DNA, mRNA and miRNA levels we could identify molecular markers that discriminated significantly between the various histopathological entities of NSCLC. We identified 34 genomic clusters using aCGH data; several genes exhibited a different profile of aberrations between AC and SCC, including PIK3CA, SOX2, THPO, TP63, PDGFB genes. Gene expression profiling analysis identified SPP1, CTHRC1and GREM1 as potential biomarkers for early diagnosis of the cancer, and SPINK1 and BMP7 to distinguish between AC and SCC in small biopsies or in blood samples. Using integrated genomics approach we found in recurrently altered regions a list of three potential driver genes, MRPS22, NDRG1 and RNF7, which were consistently over-expressed in amplified regions, had wide-spread correlation with an average of similar to 800 genes throughout the genome and highly associated with histological types. Using a network enrichment analysis, the targets of these potential drivers were seen to be involved in DNA replication, cell cycle, mismatch repair, p53 signalling pathway and other lung cancer related signalling pathways, and many immunological pathways. Furthermore, we also identified one potential driver miRNA hsa-miR-944. Conclusions: Integrated molecular characterization of AC and SCC helped identify clinically relevant markers and potential drivers, which are recurrent and stable changes at DNA level that have functional implications at RNA level and have strong association with histological subtypes.
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| 19. |
- McWhinney, Sean R, et al.
(author)
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Principal component analysis as an efficient method for capturing multivariate brain signatures of complex disorders-ENIGMA study in people with bipolar disorders and obesity.
- 2024
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In: Human brain mapping. - 1097-0193. ; 45:8
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Journal article (peer-reviewed)abstract
- Multivariate techniques better fit the anatomy of complex neuropsychiatric disorders which are characterized not by alterations in a single region, but rather by variations across distributed brain networks. Here, we used principal component analysis (PCA) to identify patterns of covariance across brain regions and relate them to clinical and demographic variables in a large generalizable dataset of individuals with bipolar disorders and controls. We then compared performance of PCA and clustering on identical sample to identify which methodology was better in capturing links between brain and clinical measures. Using data from the ENIGMA-BD working group, we investigated T1-weighted structural MRI data from 2436 participants with BD and healthy controls, and applied PCA to cortical thickness and surface area measures. We then studied the association of principal components with clinical and demographic variables using mixed regression models. We compared the PCA model with our prior clustering analyses of the same data and also tested it in a replication sample of 327 participants with BD or schizophrenia and healthy controls. The first principal component, which indexed a greater cortical thickness across all 68 cortical regions, was negatively associated with BD, BMI, antipsychotic medications, and age and was positively associated with Li treatment. PCA demonstrated superior goodness of fit to clustering when predicting diagnosis and BMI. Moreover, applying the PCA model to the replication sample yielded significant differences in cortical thickness between healthy controls and individuals with BD or schizophrenia. Cortical thickness in the same widespread regional network as determined by PCA was negatively associated with different clinical and demographic variables, including diagnosis, age, BMI, and treatment with antipsychotic medications or lithium. PCA outperformed clustering and provided an easy-to-use and interpret method to study multivariate associations between brain structure and system-level variables. PRACTITIONER POINTS: In this study of 2770 Individuals, we confirmed that cortical thickness in widespread regional networks as determined by principal component analysis (PCA) was negatively associated with relevant clinical and demographic variables, including diagnosis, age, BMI, and treatment with antipsychotic medications or lithium. Significant associations of many different system-level variables with the same brain network suggest a lack of one-to-one mapping of individual clinical and demographic factors to specific patterns of brain changes. PCA outperformed clustering analysis in the same data set when predicting group or BMI, providing a superior method for studying multivariate associations between brain structure and system-level variables.
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| 20. |
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| 21. |
- Polewko-Klim, A, et al.
(author)
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Identification of Candidate Therapeutic Genes for More Precise Treatment of Esophageal Squamous Cell Carcinoma and Adenocarcinoma
- 2022
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In: Frontiers in genetics. - : Frontiers Media SA. - 1664-8021. ; 13, s. 844542-
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Journal article (peer-reviewed)abstract
- The standard therapy administered to patients with advanced esophageal cancer remains uniform, despite its two main histological subtypes, namely esophageal squamous cell carcinoma (SCC) and esophageal adenocarcinoma (AC), are being increasingly considered to be different. The identification of potential drug target genes between SCC and AC is crucial for more effective treatment of these diseases, given the high toxicity of chemotherapy and resistance to administered medications. Herein we attempted to identify and rank differentially expressed genes (DEGs) in SCC vs. AC using ensemble feature selection methods. RNA-seq data from The Cancer Genome Atlas and the Fudan-Taizhou Institute of Health Sciences (China). Six feature filters algorithms were used to identify DEGs. We built robust predictive models for histological subtypes with the random forest (RF) classification algorithm. Pathway analysis also be performed to investigate the functional role of genes. 294 informative DEGs (87 of them are newly discovered) have been identified. The areas under receiver operator curve (AUC) were higher than 99.5% for all feature selection (FS) methods. Nine genes (i.e., ERBB3, ATP7B, ABCC3, GALNT14, CLDN18, GUCY2C, FGFR4, KCNQ5, and CACNA1B) may play a key role in the development of more directed anticancer therapy for SCC and AC patients. The first four of them are drug targets for chemotherapy and immunotherapy of esophageal cancer and involved in pharmacokinetics and pharmacodynamics pathways. Research identified novel DEGs in SCC and AC, and detected four potential drug targeted genes (ERBB3, ATP7B, ABCC3, and GALNT14) and five drug-related genes.
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| 22. |
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| 24. |
- Suo, Chen
(author)
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Statistical methods for the detection, analyses and integration of biomarkers in the human genome and transcriptome
- 2014
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Doctoral thesis (other academic/artistic)abstract
- Most human diseases have been shown to have a genetic basis that is linked to regulation of gene expression at the transcriptional or post-transcriptional level. In the central dogma of biology, deoxyribonucleic acid (DNA) is transcribed to messenger ribonucleic acid (mRNA), and then translated into proteins; dysfunction in any of these processes may contribute to the development of disease. Sources of such potential irregularities include, but not limited to, the following: point mutations in DNA sequences, copy number alterations (CNAs) and abnormal mRNA and microRNAs (miRNAs) expression. MiRNAs are a type of non-coding RNA that inhibit the transcription and/or translation of specific target mRNAs. Current technologies allow the identification of biomarkers and study of the complex interplay between DNA, mRNA, miRNA and phenotypic variation. This thesis aims to tackle the statistical challenges that have arisen with the application of these technologies to investigate various genomic and transcriptomic alterations. In study I, modified least-variant set normalization for miRNA microarray, a new algorithm and software were developed for microRNA array data normalization. The algorithm selects miRNAs with the least array-to-array variation as the reference set for normalization. The selection process was refined by accounting for the considerable differences in variances between probes. Data are provided to show that this algorithm results in better operating characteristics than other methods. In study II, joint estimation of isoform expression and isoform-specific read distribution using multi-sample RNA-Seq data, a joint model and software were developed to estimate isoform-specific read distribution and gene isoform expression, using RNA-sequencing data from multiple samples. Observation of similarities in the shape of the read distributions solves the problem that the non-uniform read intensity pattern is not identifiable from the data provided by one sample. In study III, integrated molecular portrait of non-small cell lung cancers, molecular markers at the DNA, mRNA and miRNA level that can distinguish between different histopathological subtypes of non-small cell lung cancer were identified. Additionally, using integrated genomic data including CNAs and mRNA and miRNA expression data, three potential driver genes were identified in non-small cell lung cancer, namely MRPS22, NDRG1 and RNF7. Furthermore, a potential driver miRNA, hsa-miR-944, was identified. In study IV, integration of somatic mutation, expression and functional data reveals potential driver genes predictive of breast cancer survival. An analytic pipeline to process large-scale whole-genome and transcriptome sequencing data was created, and an integrative approach based on network enrichment analyses to combine information across different types of omics data was proposed to identify putative cancer driver genes. Analysis of 60 patients with breast cancer provided evidence that patients carrying more mutated potential driver genes had poorer survival.
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| 25. |
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| 26. |
- Xiao, Tianxiao, et al.
(author)
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Autonomous self-healing hybrid energy harvester based on the combination of triboelectric nanogenerator and quantum dot solar cell
- 2024
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In: Nano Energy. - : Elsevier BV. - 2211-2855 .- 2211-3282. ; 125
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Journal article (peer-reviewed)abstract
- Realization of multi-source energy harvesting with one single device would maximize power output. Thus, it is emerging as a promising strategy towards renewable energy generation and has attracted worldwide attention in the past decades. Capable of capturing mechanical energy that is ubiquitous in the ambient environment, triboelectric nanogenerator (TENG) has been considered a novel yet effective source towards next-generation energy harvesting. In this work, a flexible hybrid energy harvester (HEH) is developed via the rational integration of autonomous self-healing TENG and high bending-stable lead sulfide quantum dot (PbS QD) solar cell, enabling independent electricity generation by two different mechanisms. The single-electrode mode TENG component with self-healing is realized by a polydimethylsiloxane/Triton X-100 (PDMS/TX100) mixture as the dielectric layer and the shared gold (Au) electrode, which generates 0.39 µA of output current (Iout), 24.6 V of output voltages (Vout), 15.4 nC of transfer charges (Qsc), and 7.80 mW m−2 of output power peak density. The thin-film solar cell component is based on a PbS QD layer as the light absorber with a planar structure fabricated under low-cost and compatible conditions, achieving 22.8 mA cm−2 of short-circuit current density (Jsc) and 4.92% of power conversion efficiency (PCE). As a proof of concept, an electronic watch is successfully powered by harnessing ambient mechanical and solar energy with a hybridized energy cell. This approach will offer more opportunities to construct a versatile platform towards remote monitoring and smart home systems.
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| 27. |
- Yao, Yibo, et al.
(author)
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Dietary fibre for the prevention of recurrent colorectal adenomas and carcinomas
- 2017
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In: Cochrane Database of Systematic Reviews. - 1469-493X. ; 2017:1
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Research review (peer-reviewed)abstract
- Background: This is an update of the Cochrane review published in 2002. Colorectal cancer (CRC) is a major cause of morbidity and mortality in industrialised countries. Experimental evidence has supported the hypothesis that dietary fibre may protect against the development of CRC, although epidemiologic data have been inconclusive. Objectives: To assess the effect of dietary fibre on the recurrence of colorectal adenomatous polyps in people with a known history of adenomatous polyps and on the incidence of CRC compared to placebo. Further, to identify the reported incidence of adverse effects, such as abdominal pain or diarrhoea, that resulted from the fibre intervention. Search methods: We identified randomised controlled trials (RCTs) from Cochrane Colorectal Cancer's Specialised Register, CENTRAL, MEDLINE and Embase (search date, 4 April 2016). We also searched ClinicalTrials.gov and WHO International Trials Registry Platform on October 2016. Selection criteria: We included RCTs or quasi-RCTs. The population were those having a history of adenomatous polyps, but no previous history of CRC, and repeated visualisation of the colon/rectum after at least two-years' follow-up. Dietary fibre was the intervention. The primary outcomes were the number of participants with: 1. at least one adenoma, 2. more than one adenoma, 3. at least one adenoma greater than or equal to 1 cm, or 4. a new diagnosis of CRC. The secondary outcome was the number of adverse events. Data collection and analysis: Two reviewers independently extracted data, assessed trial quality and resolved discrepancies by consensus. We used risk ratios (RR) and risk difference (RD) with 95% confidence intervals (CI) to measure the effect. If statistical significance was reached, we reported the number needed to treat for an additional beneficial outcome (NNTB) or harmful outcome (NNTH). We combined the study data using the fixed-effect model if it was clinically, methodologically, and statistically reasonable. Main results: We included seven studies, of which five studies with 4798 participants provided data for analyses in this review. The mean ages of the participants ranged from 56 to 66 years. All participants had a history of adenomas, which had been removed to achieve a polyp-free colon at baseline. The interventions were wheat bran fibre, ispaghula husk, or a comprehensive dietary intervention with high fibre whole food sources alone or in combination. The comparators were low-fibre (2 to 3 g per day), placebo, or a regular diet. The combined data showed no statistically significant difference between the intervention and control groups for the number of participants with at least one adenoma (5 RCTs, n = 3641, RR 1.04, 95% CI 0.95 to 1.13, low-quality evidence), more than one adenoma (2 RCTs, n = 2542, RR 1.06, 95% CI 0.94 to 1.20, low-quality evidence), or at least one adenoma 1 cm or greater (4 RCTs, n = 3224, RR 0.99, 95% CI 0.82 to 1.20, low-quality evidence) at three to four years. The results on the number of participants diagnosed with colorectal cancer favoured the control group over the dietary fibre group (2 RCTS, n = 2794, RR 2.70, 95% CI 1.07 to 6.85, low-quality evidence). After 8 years of comprehensive dietary intervention, no statistically significant difference was found in the number of participants with at least one recurrent adenoma (1 RCT, n = 1905, RR 0.97, 95% CI 0.78 to 1.20), or with more than one adenoma (1 RCT, n = 1905, RR 0.89, 95% CI 0.64 to 1.24). More participants given ispaghula husk group had at least one recurrent adenoma than the control group (1 RCT, n = 376, RR 1.45, 95% CI 1.01 to 2.08). Other analyses by types of fibre intervention were not statistically significant. The overall dropout rate was over 16% in these trials with no reasons given for these losses. Sensitivity analysis incorporating these missing data shows that none of the results can be considered as robust; when the large numbers of participants lost to follow-up were assumed to have had an event or not, the results changed sufficiently to alter the conclusions that we would draw. Therefore, the reliability of the findings may have been compromised by these missing data (attrition bias) and should be interpreted with caution. Authors' conclusions: There is a lack of evidence from existing RCTs to suggest that increased dietary fibre intake will reduce the recurrence of adenomatous polyps in those with a history of adenomatous polyps within a two to eight year period. However, these results may be unreliable and should be interpreted cautiously, not only because of the high rate of loss to follow-up, but also because adenomatous polyp is a surrogate outcome for the unobserved true endpoint CRC. Longer-term trials with higher dietary fibre levels are needed to enable confident conclusion.
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| 28. |
- Zeng, Yu, et al.
(author)
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Genetic Associations Between Stress-Related Disorders and Autoimmune Disease
- 2023
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In: American Journal of Psychiatry. - : HighWire Press. - 0002-953X .- 1535-7228. ; 180:4, s. 294-304
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Journal article (peer-reviewed)abstract
- Objective: Emerging evidence supports a bidirectional phenotypic association between stress-related disorders and autoimmune disease. However, the biological underpinnings remain unclear. Here, the authors examined whether and how shared genetics contribute to the observed phenotypic associations.Methods: Based on data from 4,123,631 individuals identified from Swedish nationwide registers, familial coaggregation of stress-related disorders (any disorder or posttraumatic stress disorder [PTSD]) and autoimmune disease were initially estimated in seven cohorts with different degrees of kinship. Polygenic risk score (PRS) analyses were then performed with individual-level genotyping data from 376,871 participants in the UK Biobank study. Finally, genetic correlation analyses and enrichment analyses were performed with genome-wide association study (GWAS) summary statistics.Results: Familial coaggregation analyses revealed decreasing odds of concurrence of stress-related disorders and autoimmune disease with descending kinship or genetic relatedness between pairs of relatives; adjusted odds ratios were 1.51(95% CI=1.09-2.07), 1.28 (95% CI=0.97-1.68), 1.16 (95% CI=1.14-1.18), and 1.01 (95% CI=0.98-1.03) for monozygotic twins, dizygotic twins, full siblings, and half cousins, respectively. Statistically significant positive asso-ciations were observed between PRSs of stress-related disorders and autoimmune disease, as well as between PRSs of autoimmune disease and stress-related disorders. GWAS summary statistics revealed a genetic correlation of 0.26 (95% CI=0.14-0. 38) between these two pheno-types and identified 10 common genes and five shared functional modules, including one module related to G-protein-coupled receptor pathways. Similar analyses performed for PTSD and specific autoimmune diseases (e.g., autoimmune thyroid disease) largely recapitulated the results of the main analyses.Conclusions: This study demonstrated familial coaggregation, genetic correlation, and common biological pathways between stress-related disorders and autoimmune disease.
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| 29. |
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| 30. |
- Zhao, RJ, et al.
(author)
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Association of Esophageal Squamous Cell Carcinoma With the Interaction Between Poor Oral Health and Single Nucleotide Polymorphisms in Regulating Cell Cycles and Angiogenesis: A Case-Control Study in High-Incidence Chinese
- 2022
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In: CANCER CONTROL. - : SAGE Publications. - 1073-2748 .- 1526-2359. ; 29
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Journal article (other academic/artistic)abstract
- Oral health and genetic factors can independently influence the risk of developing esophageal squamous cell carcinoma (ESCC). Objectives The primary objective of this study was to investigate the interactive effects of oral health and genetic factors on ESCC risk. Methods This was a matched case-control study with 927 ESCC patients and 1701 matched controls. We selected 101 candidate single nucleotide polymorphisms (SNPs) from 59 genes that were associated with ESCC. Oral health was assessed based on tooth-brushing frequency, tooth loss, and age at the time of first tooth loss. An unconditional logistic regression model was employed in which SNP–oral health interactions were assessed as risk factors for ESCC, after adjusting for age and sex. A genetic risk score (GRS) analysis was conducted. Results The association between GRS and ESCC and the synergistic effect of GRS and oral health on ESCC were examined. Daily frequency of tooth-brushing was found to interact with 5 SNPs, rs3765524, rs753724, rs994771, rs3781264, and rs11187842, to increase the risk of ESCC. In particular, individuals with genotype TT of rs3765524 who brushed their teeth less than twice a day had a 5.13-times higher risk of ESCC than those with genotype CC who brushed their teeth at least twice a day. Furthermore, tooth loss interacted with two SNPs: rs1159918 from ADH1B and rs3813867 from CYP2E1. Conclusion Oral health may interact with genetic factors increasing ESCC risk, which provides new insights into the relationship between ESCC and gene–lifestyle interactions which can be used for disease prevention.
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| 31. |
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