Publications by authors named "M Sabater-Lleal"
Background: Abdominal aortic aneurysms (AAAs) are focal dilatations of the abdominal aorta that expand progressively, increasing their risk of rupture. Rupture of an AAA is associated with high mortality rates, but the mechanisms underlying the initiation, expansion, and rupture of AAAs are not yet fully understood. We aimed to characterize the pathophysiology of AAAs and identify new genes associated with AAA initiation and progression.
View Article and Find Full Text PDFAbdominal aortic aneurysms (AAAs) are a degenerative aortic disease and associated with hallmarks of aging, such as mitophagy. Despite this, the exact associations among mitophagy, aging, and AAA progression remain unknown. In our study, gene expression analysis of human AAA tissue revealed downregulation of mitophagy pathways, mitochondrial structure, and function-related proteins.
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- Factor V (FV) is crucial for the blood coagulation process, and its plasma levels are linked to various health issues like blood clots and diabetes.
- The researchers used a specific statistical method called the Brown-Forsythe methodology to analyze genetic factors affecting FV levels in 4505 individuals from four different studies.
- They identified a significant genetic variant (rs75463553) associated with the variability in FV plasma levels, highlighting the interaction between neutrophil-related genes and FV biology.
Article Synopsis
- Researchers aimed to find new genetic variants that are linked to both fibrinogen and C-reactive protein (CRP) by conducting a bivariate genome-wide association study (GWAS).
- The study analyzed data from over 480,000 participants to identify 87 shared genetic loci, including 58 new ones, that are associated with fibrinogen and CRP levels.
- The findings indicate significant overlap between the genetic factors affecting fibrinogen and CRP, suggesting they may share a common genetic architecture.
Article Synopsis
- Genetic studies have highlighted the need for more diverse research on plasma fibrinogen levels, as previous studies largely focused on Europeans, leading to gaps in understanding and missing heritability.
- By analyzing data from whole-genome sequencing and genotype data from large cohorts, researchers identified 18 genetic loci related to fibrinogen levels, some of which are more common in African populations and include variants that may impact protein function.
- The study's findings indicate a connection between fibrinogen levels and various health conditions, emphasizing the importance of whole-genome sequencing in discovering genetic factors in diverse populations and enhancing knowledge about fibrinogen regulation.