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Genome-wide association studies on malaria in Sub-Saharan Africa: a scoping review 关于撒哈拉以南非洲疟疾的全基因组关联研究:范围审查
medRxiv Pub Date : 2024-08-12 DOI: 10.1101/2024.08.11.24311829
M. Akoth, J. Odhiambo, B. Omolo
{"title":"Genome-wide association studies on malaria in Sub-Saharan Africa: a scoping review","authors":"M. Akoth, J. Odhiambo, B. Omolo","doi":"10.1101/2024.08.11.24311829","DOIUrl":"https://doi.org/10.1101/2024.08.11.24311829","url":null,"abstract":"Background: Malaria remains one of the leading causes of death in Sub-Saharan Africa (SSA). The scoping review mapped evidence in research on existing studies on malaria genome-wide association studies (GWAS) in SSA. Methods: A scoping review was conducted to investigate the extent of malaria studies in SSA under GWAS. The review followed the methodology for scoping reviews developed by Arksey and OMalley, including identification of research problems, searching for relevant studies, selecting studies, charting data, collating, summarizing, and reporting the findings. Data from relevant studies were collected and synthesized using Excel and Zotero software. The data collected included information on the author, the years of study, the countries of study, the research areas of interest, and the study designs used. Results: Of an initial pool of over 2000 articles retrieved from four databases, namely Google Scholar, PubMed, Scopus, and Web of Science, 569 were retained. After applying the inclusion-exclusion criteria, 99 articles were found to be relevant. Most of these studies (n=25, 60%) used a case-control study design, while the rest used cross-sectional, cohort, longitudinal, family-based, and retrospective designs. These studies were conducted between 2000 and 2023, with a significant increase observed in 2011. Most studies were carried out in Kenya (n = 25), Gambia (n = 17), Cameroon (n = 15), Ghana (n = 12), and Tanzania (n=11), primarily exploring genetic variants associated with malaria susceptibility, resistance, and severity. Conclusion: Many case-control studies in Kenya and Gambia reported genetic variants in malaria susceptibility, resistance, and severity. Few articles were systematic reviews and scoping reviews. GWAS on malaria is scarce in SSA and even fewer studies are model-based. Consequently, there is a pressing need for more genome-wide research on malaria in SSA.","PeriodicalId":18505,"journal":{"name":"medRxiv","volume":"6 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141919935","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genome-wide association study of COVID-19 Breakthrough Infections and genetic overlap with other diseases: A study of the UK Biobank COVID-19 突破性感染的全基因组关联研究以及与其他疾病的基因重叠:英国生物库研究
medRxiv Pub Date : 2024-08-12 DOI: 10.1101/2024.08.11.24311845
Yaning Feng, Kenneth Chi-Yin, Wong, Wai Kai Tsui, Ruoyu Zhang, Yong XIANG, SO Hon-Cheong, Lo
{"title":"Genome-wide association study of COVID-19 Breakthrough Infections and genetic overlap with other diseases: A study of the UK Biobank","authors":"Yaning Feng, Kenneth Chi-Yin, Wong, Wai Kai Tsui, Ruoyu Zhang, Yong XIANG, SO Hon-Cheong, Lo","doi":"10.1101/2024.08.11.24311845","DOIUrl":"https://doi.org/10.1101/2024.08.11.24311845","url":null,"abstract":"Background: The COVID-19 pandemic has led to substantial health and financial burden worldwide, and vaccines provide hope to reduce the burden of this pandemic. However, vaccinated people remain at risk for SARS-CoV-2 infection. Genome-wide association studies (GWAS) may allow for the identification of potential genetic factors involved in the development of COVID-19 breakthrough infections (BI), however very few or no GWAS have been conducted for COVID-19 BI so far. Methods: We conducted a GWAS and detailed bioinformatics analysis on COVID-19 BI in a European population based on the UK-Biobank (UKBB). We conducted a series of analyses at different levels, including SNP-based, gene-based, pathway, and transcriptome-wide association analyses, to investigate genetic factors associated with COVID-19 BI and hospitalized infection. Polygenic risk score (PRS) and Hoeffding's test were performed to reveal genetic relationships between BI and other medical conditions. Results: Two independent loci (LD-clumped at r2=0.01) reached genome-wide significance (p<5e-08), including rs36170929 mapped to LOC102725191/VWDE, and rs28645263 mapped to RETREG1. Pathway enrichment analysis highlighted pathways such as viral myocarditis, Rho-selective guanine exchange factor AKAP13 signaling, and lipid metabolism. PRS analyses showed significant genetic overlap between COVID-19 BI and heart failure, HbA1c and type 1 diabetes. Genetic dependence was also observed between COVID-19 BI and asthma, lung abnormalities, schizophrenia, and type 1 diabetes, based on the Hoeffding's test. Conclusions: This GWAS study revealed two significant loci that may be associated with COVID-19 BI, and a number of genes and pathways that may be involved in BI. Genetic overlap with other diseases was identified. Further studies are warranted to replicate the findings and elucidate the mechanisms involved.","PeriodicalId":18505,"journal":{"name":"medRxiv","volume":"5 17","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141919980","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genome-wide association studies on malaria in Sub-Saharan Africa: a scoping review 关于撒哈拉以南非洲疟疾的全基因组关联研究:范围审查
medRxiv Pub Date : 2024-08-12 DOI: 10.1101/2024.08.11.24311829
M. Akoth, J. Odhiambo, B. Omolo
{"title":"Genome-wide association studies on malaria in Sub-Saharan Africa: a scoping review","authors":"M. Akoth, J. Odhiambo, B. Omolo","doi":"10.1101/2024.08.11.24311829","DOIUrl":"https://doi.org/10.1101/2024.08.11.24311829","url":null,"abstract":"Background: Malaria remains one of the leading causes of death in Sub-Saharan Africa (SSA). The scoping review mapped evidence in research on existing studies on malaria genome-wide association studies (GWAS) in SSA. Methods: A scoping review was conducted to investigate the extent of malaria studies in SSA under GWAS. The review followed the methodology for scoping reviews developed by Arksey and OMalley, including identification of research problems, searching for relevant studies, selecting studies, charting data, collating, summarizing, and reporting the findings. Data from relevant studies were collected and synthesized using Excel and Zotero software. The data collected included information on the author, the years of study, the countries of study, the research areas of interest, and the study designs used. Results: Of an initial pool of over 2000 articles retrieved from four databases, namely Google Scholar, PubMed, Scopus, and Web of Science, 569 were retained. After applying the inclusion-exclusion criteria, 99 articles were found to be relevant. Most of these studies (n=25, 60%) used a case-control study design, while the rest used cross-sectional, cohort, longitudinal, family-based, and retrospective designs. These studies were conducted between 2000 and 2023, with a significant increase observed in 2011. Most studies were carried out in Kenya (n = 25), Gambia (n = 17), Cameroon (n = 15), Ghana (n = 12), and Tanzania (n=11), primarily exploring genetic variants associated with malaria susceptibility, resistance, and severity. Conclusion: Many case-control studies in Kenya and Gambia reported genetic variants in malaria susceptibility, resistance, and severity. Few articles were systematic reviews and scoping reviews. GWAS on malaria is scarce in SSA and even fewer studies are model-based. Consequently, there is a pressing need for more genome-wide research on malaria in SSA.","PeriodicalId":18505,"journal":{"name":"medRxiv","volume":"20 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141919169","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generative Large Language Models in Electronic Health Records for Patient Care Since 2023: A Systematic Review 2023 年以来电子健康记录中用于患者护理的生成式大型语言模型:系统回顾
medRxiv Pub Date : 2024-08-12 DOI: 10.1101/2024.08.11.24311828
Xinsong Du, Zhengyang Zhou, Yifei Wang, Ya-Wen Chuang, Richard Yang, Wenyu Zhang, Xinyi Wang, Rui Zhang, Pengyu Hong, David W. Bates, Li Zhou
{"title":"Generative Large Language Models in Electronic Health Records for Patient Care Since 2023: A Systematic Review","authors":"Xinsong Du, Zhengyang Zhou, Yifei Wang, Ya-Wen Chuang, Richard Yang, Wenyu Zhang, Xinyi Wang, Rui Zhang, Pengyu Hong, David W. Bates, Li Zhou","doi":"10.1101/2024.08.11.24311828","DOIUrl":"https://doi.org/10.1101/2024.08.11.24311828","url":null,"abstract":"Background: Generative Large language models (LLMs) represent a significant advancement in natural language processing, achieving state-of-the-art performance across various tasks. However, their application in clinical settings using real electronic health records (EHRs) is still rare and presents numerous challenges. Objective: This study aims to systematically review the use of generative LLMs in patient care-related topics involving EHRs, summarize the challenges faced, and suggest future directions. Methods: A Boolean search for peer-reviewed articles was conducted in May 2024 using PubMed and Web of Science to include research articles published since 2023, which was one month after the release of ChatGPT. The search results were deduplicated. Multiple reviewers, including biomedical informaticians, computer scientists, and a physician, screened the publications for eligibility and extracted bibliometric and clinically relevant information. Only papers utilizing generative LLMs to analyze real EHR data were included. We summarized the use of prompt engineering, fine-tuning, multimodal EHR data, and evaluation matrices. Additionally, we identified current challenges in applying LLMs in clinical settings as reported by the included papers and proposed future directions. Results: The initial search identified 6,328 unique studies, with 76 studies included after eligibility screening. Of these, 67 studies (88.2%) employed zero-shot prompting, five of them reported 100% accuracy on five specific clinical tasks. Nine studies used advanced prompting strategies; four tested these strategies experimentally, finding that prompt engineering improved performance, with one study noting a non-linear relationship between the number of examples in a prompt and performance improvement. Eight studies explored fine-tuning generative LLMs, all reported performance improvements on specific tasks, but three of them noted potential performance degradation after fine-tuning on certain tasks. Only two studies utilized multimodal data, which improved LLM-based decision-making and enabled accurate rare disease diagnosis and prognosis. The studies employed 55 different evaluation metrics for 22 purposes, such as correctness, completeness, and conciseness. Two studies investigated LLM bias, with one detecting no bias and the other finding that male patients received more appropriate clinical decision-making suggestions. Six studies identified hallucinations, such as fabricating patient names in structured thyroid ultrasound reports. Additional challenges included but not limited to the impersonal tone of LLM consultations, which made patients uncomfortable, and the difficulty patients had in understanding LLM responses. Conclusion: Our review indicates that few studies have employed advanced computational techniques to enhance LLM performance. The diverse evaluation metrics used highlight the need for standardization. LLMs currently cannot replace physicians due to cha","PeriodicalId":18505,"journal":{"name":"medRxiv","volume":"42 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141919275","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The accuracy of large language models in labelling neurosurgical 'case-control studies and risk of bias assessment: protocol for a study of interrater agreement with human reviewers. 大型语言模型在标注神经外科 "病例对照研究 "和偏倚风险评估中的准确性:与人类审稿人进行的审稿人间一致性研究协议。
medRxiv Pub Date : 2024-08-12 DOI: 10.1101/2024.08.11.24311830
Joanne Igoli, Temidayo Osunronbi, O. Olukoya, Jeremiah Oluwatomi, Itodo Daniel, Hillary O. Alemenzohu, Alieu Kanu, Alex Mwangi Kihunyu, Ebuka Okeleke, Henry Oyoyo, Oluwatobi Shekoni, D. Jesuyajolu, Andrew F Alalade
{"title":"The accuracy of large language models in labelling neurosurgical 'case-control studies and risk of bias assessment: protocol for a study of interrater agreement with human reviewers.","authors":"Joanne Igoli, Temidayo Osunronbi, O. Olukoya, Jeremiah Oluwatomi, Itodo Daniel, Hillary O. Alemenzohu, Alieu Kanu, Alex Mwangi Kihunyu, Ebuka Okeleke, Henry Oyoyo, Oluwatobi Shekoni, D. Jesuyajolu, Andrew F Alalade","doi":"10.1101/2024.08.11.24311830","DOIUrl":"https://doi.org/10.1101/2024.08.11.24311830","url":null,"abstract":"Introduction: Accurate identification of study designs and risk of bias (RoB) assessment is crucial for evidence synthesis in research. However, mislabelling of case-control studies (CCS) is prevalent, leading to a downgraded quality of evidence. Large Language Models (LLMs), a form of artificial intelligence, have shown impressive performance in various medical tasks. Still, their utility and application in categorising study designs and assessing RoB needs to be further explored. This study will evaluate the performance of four publicly available LLMs (ChatGPT-3.5, ChatGPT-4, Claude 3 Sonnet, Claude 3 Opus) in accurately identifying CCS designs from the neurosurgical literature. Secondly, we will assess the human-LLM interrater agreement for RoB assessment of true CCS. Methods: We identified thirty-four top-ranking neurosurgical-focused journals and searched them on PubMed/MEDLINE for manuscripts reported as CCS in the title/abstract. Human reviewers will independently assess study designs and RoB using the Newcastle-Ottawa Scale. The methods sections/full-text articles will be provided to LLMs to determine study designs and assess RoB. Cohen's kappa will be used to evaluate human-human, human-LLM and LLM-LLM interrater agreement. Logistic regression will be used to assess study characteristics affecting performance. A p-value < 0.05 at a 95% confidence interval will be considered statistically significant. Conclusion If the human-LLM agreement is high, LLMs could become valuable teaching and quality assurance tools for critical appraisal in neurosurgery and other medical fields. This study will contribute to validating LLMs for specialised scientific tasks in evidence synthesis. This could lead to reduced review costs, faster completion, standardisation, and minimal errors in evidence synthesis.","PeriodicalId":18505,"journal":{"name":"medRxiv","volume":"11 17","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141919667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Geospatial analysis of the presence of hypertension, diabetes, obesity, and lifestyles in the Peruvian population 秘鲁人口高血压、糖尿病、肥胖症和生活方式的地理空间分析
medRxiv Pub Date : 2024-08-12 DOI: 10.1101/2024.08.11.24311820
J. Loayza-Castro, L. A. M. Valladoli-Sansoval, L. E. M. -. Vasquez-Romero, F. E. Zuzunaga-Montoya, J. R. Astucuri Hidalgo, V. Vera-Ponce
{"title":"Geospatial analysis of the presence of hypertension, diabetes, obesity, and lifestyles in the Peruvian population","authors":"J. Loayza-Castro, L. A. M. Valladoli-Sansoval, L. E. M. -. Vasquez-Romero, F. E. Zuzunaga-Montoya, J. R. Astucuri Hidalgo, V. Vera-Ponce","doi":"10.1101/2024.08.11.24311820","DOIUrl":"https://doi.org/10.1101/2024.08.11.24311820","url":null,"abstract":"Introduction: In Peru, the prevalence of diabetes mellitus (DM), hypertension (HTN), and obesity has increased significantly while healthy lifestyles have declined. However, the geographic distribution of these conditions at the provincial level has not been fully elucidated. Objective: To conduct a geospatial analysis to provide a comprehensive view of the distribution of DM, HTN, obesity, and lifestyles across Peruvian provinces. Materials and Methods: An analytical cross-sectional study was conducted using data from the 2023 Demographic and Family Health Survey (DHS). Descriptive analysis of the study variables was performed, and geospatial analysis techniques, including heat maps and the Local Moran's Index, were used to identify distribution patterns and clusters. Results: The national prevalence of DM, HTN, and obesity was 5.66%, 20.43%, and 27.67%, respectively. It was found that 8.35% were current smokers, 2.24% consumed alcohol excessively, and 90.69% consumed fewer than five servings of fruits and vegetables daily. Geospatial analysis revealed hotspots of high DM prevalence in the provinces of Oyon (Lima) and Daniel Alcides Carrion (Pasco), HTN in Putumayo (Loreto) and Corongo (Ancash), and obesity in Putumayo and Maynas (Loreto), and Pallasca (Ancash). Regarding lifestyles, clusters of high alcohol consumption were identified in the provinces of Piura and Cajamarca, high tobacco consumption in Loreto and San Martin, and low fruit and vegetable consumption in Lima and Huanuco. Conclusions: Marked geographical disparities were observed in the prevalence of chronic diseases and unhealthy lifestyles among Peruvian provinces, with a notable concentration in jungle regions and some coastal Andean areas. Keywords: Healthy lifestyles, chronic disease, Geographic Information Systems, Peru (DeCS)","PeriodicalId":18505,"journal":{"name":"medRxiv","volume":"7 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141919886","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Geospatial analysis of the presence of hypertension, diabetes, obesity, and lifestyles in the Peruvian population 秘鲁人口高血压、糖尿病、肥胖症和生活方式的地理空间分析
medRxiv Pub Date : 2024-08-12 DOI: 10.1101/2024.08.11.24311820
J. Loayza-Castro, L. A. M. Valladoli-Sansoval, L. E. M. -. Vasquez-Romero, F. E. Zuzunaga-Montoya, J. R. Astucuri Hidalgo, V. Vera-Ponce
{"title":"Geospatial analysis of the presence of hypertension, diabetes, obesity, and lifestyles in the Peruvian population","authors":"J. Loayza-Castro, L. A. M. Valladoli-Sansoval, L. E. M. -. Vasquez-Romero, F. E. Zuzunaga-Montoya, J. R. Astucuri Hidalgo, V. Vera-Ponce","doi":"10.1101/2024.08.11.24311820","DOIUrl":"https://doi.org/10.1101/2024.08.11.24311820","url":null,"abstract":"Introduction: In Peru, the prevalence of diabetes mellitus (DM), hypertension (HTN), and obesity has increased significantly while healthy lifestyles have declined. However, the geographic distribution of these conditions at the provincial level has not been fully elucidated. Objective: To conduct a geospatial analysis to provide a comprehensive view of the distribution of DM, HTN, obesity, and lifestyles across Peruvian provinces. Materials and Methods: An analytical cross-sectional study was conducted using data from the 2023 Demographic and Family Health Survey (DHS). Descriptive analysis of the study variables was performed, and geospatial analysis techniques, including heat maps and the Local Moran's Index, were used to identify distribution patterns and clusters. Results: The national prevalence of DM, HTN, and obesity was 5.66%, 20.43%, and 27.67%, respectively. It was found that 8.35% were current smokers, 2.24% consumed alcohol excessively, and 90.69% consumed fewer than five servings of fruits and vegetables daily. Geospatial analysis revealed hotspots of high DM prevalence in the provinces of Oyon (Lima) and Daniel Alcides Carrion (Pasco), HTN in Putumayo (Loreto) and Corongo (Ancash), and obesity in Putumayo and Maynas (Loreto), and Pallasca (Ancash). Regarding lifestyles, clusters of high alcohol consumption were identified in the provinces of Piura and Cajamarca, high tobacco consumption in Loreto and San Martin, and low fruit and vegetable consumption in Lima and Huanuco. Conclusions: Marked geographical disparities were observed in the prevalence of chronic diseases and unhealthy lifestyles among Peruvian provinces, with a notable concentration in jungle regions and some coastal Andean areas. Keywords: Healthy lifestyles, chronic disease, Geographic Information Systems, Peru (DeCS)","PeriodicalId":18505,"journal":{"name":"medRxiv","volume":"22 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141919139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mapping Epigenetic Gene Variant Dynamics: Comparative Analysis of Frequency, Functional Impact and Trait Associations in African and European Populations 绘制表观遗传基因变异动态图:非洲和欧洲人群的频率、功能影响和性状关联的比较分析
medRxiv Pub Date : 2024-08-12 DOI: 10.1101/2024.08.11.24311816
M. Sinkala, Gaone Retshabile, P. Mpangase, Salia Bamba, Modibo K Goita, Vicky Nembaware, S. Elsheikh, Jeannine Heckmann, K. Esoh, M. Matshaba, Clement A. Adebamowo, S. Adebamowo, Ofon Elvis, Amih, A. Wonkam, Michele Ramsay, Nicola Mulder
{"title":"Mapping Epigenetic Gene Variant Dynamics: Comparative Analysis of Frequency, Functional Impact and Trait Associations in African and European Populations","authors":"M. Sinkala, Gaone Retshabile, P. Mpangase, Salia Bamba, Modibo K Goita, Vicky Nembaware, S. Elsheikh, Jeannine Heckmann, K. Esoh, M. Matshaba, Clement A. Adebamowo, S. Adebamowo, Ofon Elvis, Amih, A. Wonkam, Michele Ramsay, Nicola Mulder","doi":"10.1101/2024.08.11.24311816","DOIUrl":"https://doi.org/10.1101/2024.08.11.24311816","url":null,"abstract":"Epigenetic modifications influence gene expression levels, impact organismal traits, and play a role in the development of diseases. Therefore, variants in genes involved in epigenetic processes are likely to be important in disease susceptibility, and the frequency of variants may vary between populations with African and European ancestries. Here, we analyse an integrated dataset to define the frequencies, associated traits, and functional impact of epigenetic gene variants among individuals of African and European ancestry represented in the UK Biobank. We find that the frequencies of 88.4% of epigenetic gene variants significantly differ between these groups. Furthermore, we find that the variants are associated with many traits and diseases, and some of these associations may be population-specific owing to allele frequency differences. Additionally, we observe that variants associated with traits are significantly enriched for quantitative trait loci that affect DNA methylation, chromatin accessibility, and gene expression. We find that methylation quantitative trait loci account for 71.2% of the variants influencing gene expression. Moreover, variants linked to biomarker traits exhibit high correlation. We therefore conclude that epigenetic gene variants associated with traits tend to differ in their allele frequencies among African and European populations and are enriched for QTLs.","PeriodicalId":18505,"journal":{"name":"medRxiv","volume":"40 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141919001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nasal colonizing vancomycin-resistant and intermediate Staphylococcus aureus among admitted patients 入院患者中鼻定植的耐万古霉素金黄色葡萄球菌和中型金黄色葡萄球菌
medRxiv Pub Date : 2024-08-12 DOI: 10.1101/2024.08.12.24311719
B. K. Mengistu, T. Alemayehu, T. H. Mengesha, M. M. Ali
{"title":"Nasal colonizing vancomycin-resistant and intermediate Staphylococcus aureus among admitted patients","authors":"B. K. Mengistu, T. Alemayehu, T. H. Mengesha, M. M. Ali","doi":"10.1101/2024.08.12.24311719","DOIUrl":"https://doi.org/10.1101/2024.08.12.24311719","url":null,"abstract":"Background: Staphylococcus aureus colonizing the nasal cavity is a potential source of infections. Vancomycin is a mainstay for treating invasive infections caused by penicillin and methicillin-resistant S. aureus (MRSA). Some reports indicate the emergence of vancomycin-resistant S. aureus (VRSA) making it a high-priority pathogen that needs attention. There is a limited report on the epidemiology of VRSA and vancomycin-intermediate S. aureus (VISA) from the Sidama regional state. Objective: The objective of this study was to determine VRSA and VISA among S. aureus colonizing patients admitted at Hawassa University Comprehensive Specialized Hospital (HUCSH), associated factors, and antimicrobial susceptibility profile. Methods: A hospital-based prospective cross-sectional study was conducted from April to June 2023. Socio-demographic and clinical data were collected using an interviewer-administered questionnaire. Nasal swabs were collected from 378 admitted patients. Identification of S. aureus was made using standard bacteriological methods. VRSA was determined by the Epsilometer test (E-test). The antimicrobial susceptibility profile was determined according to the Kirby-Bauer disk diffusion method. Data was analyzed using SPSS version 22. A p<0.05 was taken as a cut point to determine a statistically significant association. Results: Out of the total 92 S. aureus isolated 12 (13.04%), 27(29.3%), 15(16.3%) were VRSA, VISA, and MRSA respectively. The carriage rate of VRSA and VISA among admitted patients were 12(3.2%) with 95% CI: 1.7%-5.5% and 27(7.14%) with 95% CI: 4.8%-10.2% respectively. The overall nasal carriage rate of S. aureus and MRSA was 92(24.3%) with 95% CI: 20.1%-29% and 15(3.97%) with 95% CI: 2.2%-6.5% respectively. Of the VRSA isolates, 11(91.7%) were susceptible to tigecycline. Forty (43.5%) of S. aureus were positive for inducible clindamycin resistance. Participants with a history of hospitalization at the intensive care unit were 37 times more likely to be colonized with VRSA (p=0.001). Participants who have domestic animals were 22 times more likely to be colonized with VRSA (p=0.021). Conclusions: This study indicated a high proportion of VRSA and VISA among S. aureus isolated from hospitalized patients in the study area. More than 80% of VRSA were susceptible to tigecycline. History of hospitalization at the intensive care unit and having domestic animals at home could increase the odds of VRSA colonization.","PeriodicalId":18505,"journal":{"name":"medRxiv","volume":"32 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141919216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Its because they are my kids and I love them": The impact of family and community substance use on children and families 因为他们是我的孩子,我爱他们":家庭和社区使用药物对儿童和家庭的影响
medRxiv Pub Date : 2024-08-12 DOI: 10.1101/2024.08.11.24311834
Meghan Ford, Ryan Truong, Bruce Knox, Susan A. Bartels, Colleen Davidson, Michele Cole, Logan Jackson, Eva Purkey, Imaan Bayoumi
{"title":"Its because they are my kids and I love them\": The impact of family and community substance use on children and families","authors":"Meghan Ford, Ryan Truong, Bruce Knox, Susan A. Bartels, Colleen Davidson, Michele Cole, Logan Jackson, Eva Purkey, Imaan Bayoumi","doi":"10.1101/2024.08.11.24311834","DOIUrl":"https://doi.org/10.1101/2024.08.11.24311834","url":null,"abstract":"Background: Substance use disorders (SUD) significantly impact the physical, social, and mental health of individuals, their families, and the wider community. Parental substance use can lead to long-term social and health problems for children. Examining resilience and its determinants among families directly affected by SUD (e.g., having a parent who misuses substances) or indirectly exposed to substance use (e.g., living in a community impacted by drug use) may uncover valuable insights to support families addressing SUD. The existing literature does not adequately address substance use within the context of families with young children and community resilience. The current study aims to enhance our understanding of the daily impact of family member substance use (direct substance use) or exposure to substance use within the community (indirect substance use) on children and families through qualitative interviews. Methods: The present study was a qualitative secondary analysis. Families were recruited within the Kingston, Frontenac, Lennox, and Addington area during 2022 and 2023 with a focus on maximum variation. Families were eligible to participate if they: 1) included at least one adult caring for a child under 18; 2) had a history of adversity; 3) were interested in participating; and 4) could consent to all parts of the study. Arts-based qualitative methods and community based participatory methods were employed. Participating families created a visual timeline, participated in a focus group discussion, and an individual interview. The qualitative transcripts were then analyzed following reflexive thematic analysis. Findings: Six families (12 adults, 4 children) were included in the secondary analysis. The analysis generated four themes: (1) How children affect resilience in families affected by SUD; (2) Service needs of parents with SUD to enhance family resilience; (3) The role of social support in family resilience; and (4) How perceptions of safety and trust challenge community resilience. The main limitation of this study was a small sample size. Conclusions: The study highlights the significant impact of family and community on the resilience of individuals affected by SUD. It emphasizes the importance of developing addictions services and social environments that are supportive of families with young children. These spaces should be designed to be substance-free, inclusive, and welcoming to children. Additionally, there is a need to improve service navigation and address the barriers to care commonly experienced by individuals affected by SUD.","PeriodicalId":18505,"journal":{"name":"medRxiv","volume":"11 16","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141919456","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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