Publications by authors named "Silvia Diz De Almeida"
The frequency of mitochondrial DNA haplogroups (mtDNA-HG) in humans is known to be shaped by migration and repopulation. Mounting evidence indicates that mtDNA-HG are not phenotypically neutral, and selection may contribute to its distribution. Haplogroup H, the most abundant in Europe, improved survival in sepsis.
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- The study investigates the genetic factors linked to severe COVID-19, specifically focusing on hospitalized cases in admixed Americans.
- Researchers conducted the largest genome-wide association study (GWAS) for COVID-19 hospitalization in this population, identifying four significant genetic associations, including two novel loci found in Latin Americans.
- The findings highlight the importance of including diverse populations in genomic research, aiming to improve understanding of genetic risks associated with COVID-19 across different ethnic groups.
Pre-existing coronary artery disease (CAD), and thrombotic, inflammatory, or virus infectivity response phenomena have been associated with COVID-19 disease severity. However, the association of candidate single nucleotide variants (SNVs) related to mechanisms of COVID-19 complications has been seldom analysed. Our aim was to test and validate the effect of candidate SNVs on COVID-19 severity.
View Article and Find Full Text PDFAim: Few genome-wide association studies (GWAS) have been conducted for severe forms of periodontitis (stage III/IV grade C), and the number of known risk genes is scarce. To identify further genetic risk variants to improve the understanding of the disease aetiology, a GWAS meta-analysis in cases with a diagnosis at ≤35 years of age was performed.
Materials And Methods: Genotypes from German, Dutch and Spanish GWAS studies of III/IV-C periodontitis diagnosed at age ≤35 years were imputed using TopMed.
Introduction: Small cell lung cancer (SCLC) comprises 10-15% of all lung cancer cases and is the most aggressive histological type. Survival is poor and the molecular landscape of this disease is extraordinarily complex. The objective of this paper was to perform a Genome-Wide Association Study (GWAS) of this disease using a case-control study specifically designed for small cell lung cancer (SCLC).
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- A genome-wide study involving nearly 12,000 COVID-19 positive cases in Spain identified significant genetic variants linked to hospitalization, with specific loci associated with males (3p21.31, 21q22.11) and females (9q21.32 near TLE1).
- A second phase combined data with an additional cohort, revealing two new risk loci (9p13.3, 19q13.12) related to candidate genes AQP3 and ARHGAP33, and confirmed earlier findings in males for some loci.
- The analysis highlighted genetic differences in COVID-19 severity between sexes and ages, with more pronounced heritability in males, particularly those over