Publications by authors named "E Scorletti"
Background & Aim: An unbiased genome-first approach can expand the molecular understanding of specific genes in disease-agnostic biobanks for deeper phenotyping. represents a good candidate for this approach due to its known association with steatotic liver disease (SLD).
Methods: We screened participants with whole-exome sequences in the Penn Medicine Biobank (PMBB, n >40,000) and the UK Biobank (UKB, n >200,000) for protein-altering variants in and evaluated their association with liver phenotypes and clinical outcomes.
Article Synopsis
- A study investigated how metabolic syndrome (MetS) traits and liver fibrosis affect the risk of chronic kidney disease (CKD) and end-stage renal disease (ESRD) in individuals with metabolic dysfunction-associated steatotic liver disease (MASLD).
- Data from over 234,000 participants were analyzed, revealing that a significant portion had MASLD and MetS; certain traits like hypertension and type 2 diabetes increased CKD risk, especially when combined with advanced liver fibrosis.
- The findings suggest that the presence and number of MetS traits, along with liver fibrosis, significantly raise the risk of CKD and the likelihood of developing ESRD over time.
Article Synopsis
- * Bile acids (BAs) play a crucial role in digestion, metabolism regulation, and gut microbiota balance, and their effects on cardiovascular health can vary based on concentration and composition.
- * The review emphasizes the potential for targeting BA receptors to develop new treatments for liver diseases and cardiovascular conditions linked to metabolic issues, while also calling for more research in this area.
Background: The ERLIN1 p.Ile291Val single-nucleotide polymorphism (rs2862954) is associated with protection from steatotic liver disease (SLD), but effects of this variant on metabolic phenotypes remain uncertain.
Methods: Metabolic phenotypes and outcomes associated with ERLIN1 p.
Article Synopsis
- The study investigates the association between a common variant of the MLXIPL gene, specifically Gln241His, and its impact on metabolic health, particularly regarding triglyceride levels and steatotic liver disease (SLD).
- Findings from two large biobanks indicate that individuals with this genetic variant often have lower triglyceride levels and certain liver enzymes but are at a higher risk for SLD, especially if they are female, obese, or carry another specific variant (PNPLA3 I148M).
- The results suggest that targeting the MLXIPL pathway could be a potential strategy for treating SLD and related conditions, but further research is required to understand the underlying mechanisms.