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Genetic insight into dissecting the immunophenotypes and inflammatory profiles in the pathogenesis of Sjogren syndrome.
J Transl Med
January 2025
Department of Rheumatology and Immunology, Peking University Third Hospital, No. 49, North Garden Road, Beijing, 100191, China.
Background: Sjogren syndrome (SS) is a chronic systemic autoimmune disease and its pathogenesis often involves the participation of numerous immune cells and inflammatory factors. Despite increased researches and studies recently focusing on this area, it remains to be fully elucidated. We decide to incorporate genetic insight into investigation of the causal link between various immune cells, inflammatory factors and pathogenesis of Sjogren syndrome (SS).
View Article and Find Full Text PDFInvestigating misclassification of type 1 diabetes in a population-based cohort of British Pakistanis and Bangladeshis using polygenic risk scores.
Sci Rep
January 2025
Wolfson Institute of Population Health, Queen Mary University of London, London, UK.
Correct classification of type 1 (T1D) and type 2 diabetes (T2D) is challenging due to overlapping clinical features and the increasingly early onset of T2D, particularly in South Asians. Polygenic risk scores (PRSs) for T1D and T2D have been shown to work relatively well in South Asians, despite being derived from largely European-ancestry samples. Here we used PRSs to investigate the rate of potential misclassification of diabetes amongst British Bangladeshis and Pakistanis.
View Article and Find Full Text PDFEpidemiological methods in transition: Minimizing biases in classical and digital approaches.
PLOS Digit Health
January 2025
Social Physics and Complexity (SPAC) Lab, LIP-Laboratory for Instrumentation and Experimental Particle Physics, Lisboa, Portugal.
Epidemiology and Public Health have increasingly relied on structured and unstructured data, collected inside and outside of typical health systems, to study, identify, and mitigate diseases at the population level. Focusing on infectious diseases, we review the state of Digital Epidemiology at the beginning of 2020 and how it changed after the COVID-19 pandemic, in both nature and breadth. We argue that Epidemiology's progressive use of data generated outside of clinical and public health systems creates several technical challenges, particularly in carrying specific biases that are almost impossible to correct for a priori.
View Article and Find Full Text PDFA simple phylogenetic approach to analyze hypermutated HIV proviruses reveals insights into their dynamics and persistence during antiretroviral therapy.
Virus Evol
November 2024
Faculty of Health Sciences, Simon Fraser University, 8888 University Drive, Burnaby, BC V5A 1S6, Canada.
Hypermutated proviruses, which arise in a single Human Immunodeficiency Virus (HIV) replication cycle when host antiviral APOBEC3 proteins introduce extensive guanine to adenine mutations throughout the viral genome, persist in all people living with HIV receiving antiretroviral therapy (ART). However, hypermutated sequences are routinely excluded from phylogenetic trees because their extensive mutations complicate phylogenetic inference, and as a result, we know relatively little about their within-host evolutionary origins and dynamics. Using >1400 longitudinal single-genome-amplified HIV sequences isolated from six women over a median of 18 years of follow-up-including plasma HIV RNA sequences collected over a median of 9 years between seroconversion and ART initiation, and >500 proviruses isolated over a median of 9 years on ART-we evaluated three approaches for masking hypermutation in nucleotide alignments.
View Article and Find Full Text PDFCausal Relationships Between Blood Lipid Levels and Chronic Obstructive Pulmonary Disease: A Mendelian Randomization Analysis.
Int J Chron Obstruct Pulmon Dis
January 2025
Department of Rehabilitation Medicine, General Hospital of Central Theater Command, Wuhan, 430065, People's Republic of China.
Background: In preliminary research and literature review, we identified a potential link between chronic obstructive pulmonary disease (COPD) and lipid metabolism. Therefore, this study employed Mendelian randomization (MR) analysis to investigate the potential causal connection between blood lipids and COPD.
Materials And Methods: A genome-wide association study (GWAS) on COPD was conducted, encompassing a total of 112,583 European participants from the MRC-IEU.
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