Publications by authors named "C Cappadona"
Article Synopsis
- Genetic variants play a role in the risk of developing primary biliary cholangitis (PBC), prompting the creation of a polygenic risk score (PRS) to assess this risk.
- The study analyzed data from two Italian groups to validate the PRS alongside factors like HLA status and sex, with results showing that patients had higher risk scores compared to controls.
- The final model, which incorporated sex, accurately distinguished between PBC cases and controls, identifying a high-risk group that could benefit from personalized monitoring strategies.
Article Synopsis
- - SARS-CoV-2 causes COVID-19, which can range from no symptoms to severe illness or death. Factors like age, gender, and existing health issues can worsen outcomes.
- - The genetic makeup of both the virus and the infected individuals can influence the severity of COVID-19 symptoms, leading to varied clinical experiences.
- - The review discusses current research on genetic factors that contribute to more severe COVID-19 cases, along with a brief overview of the disease's symptoms and how the virus infects humans.
Background: The application of Machine Learning (ML) to genetic individual-level data represents a foreseeable advancement for the field, which is still in its infancy. Here, we aimed to evaluate the feasibility and accuracy of an ML-based model for disease risk prediction applied to Primary Biliary Cholangitis (PBC).
Methods: Genome-wide significant variants identified in subjects of European ancestry in the recently released second international meta-analysis of GWAS in PBC were used as input data.
Given the highly variable clinical phenotype of Coronavirus disease 2019 (COVID-19), a deeper analysis of the host genetic contribution to severe COVID-19 is important to improve our understanding of underlying disease mechanisms. Here, we describe an extended genome-wide association meta-analysis of a well-characterized cohort of 3255 COVID-19 patients with respiratory failure and 12 488 population controls from Italy, Spain, Norway and Germany/Austria, including stratified analyses based on age, sex and disease severity, as well as targeted analyses of chromosome Y haplotypes, the human leukocyte antigen region and the SARS-CoV-2 peptidome. By inversion imputation, we traced a reported association at 17q21.
View Article and Find Full Text PDFPrimary Biliary Cholangitis (PBC) is a rare autoimmune disease of the liver, affecting mostly females. There is evidence that epigenetic changes have a pathogenic role in PBC. Epigenetic modifications are related to methylation of CpG DNA islands, post-translational modifications of histone proteins, and non-coding RNAs.
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