A5064664457- Chronic Obstructive Pulmonary Disease (COPD) Research
- Protease and Inhibitor Mechanisms
- Asthma and respiratory diseases
- Blood groups and transfusion
- Erythrocyte Function and Pathophysiology
- Air Quality and Health Impacts
- Genetic Associations and Epidemiology
- Renal and related cancers
- Genomics and Phylogenetic Studies
- Hemoglobinopathies and Related Disorders
- Renal Diseases and Glomerulopathies
- Climate Change and Health Impacts
- Peptidase Inhibition and Analysis
- Protein Hydrolysis and Bioactive Peptides
- Gout, Hyperuricemia, Uric Acid
- Platelet Disorders and Treatments
- Epigenetics and DNA Methylation
- IL-33, ST2, and ILC Pathways
- Blood Coagulation and Thrombosis Mechanisms
- Cardiovascular Function and Risk Factors
- Glycosylation and Glycoproteins Research
- Cancer Genomics and Diagnostics
- Iron Metabolism and Disorders
- Pediatric health and respiratory diseases
- Methemoglobinemia and Tumor Lysis Syndrome
Swiss Red Cross
2022-2024
Centre for Genomic Regulation
2019-2022
Centro Nacional de Análisis Genómico
2016-2021
Barcelona Institute for Science and Technology
2019
Swiss Tropical and Public Health Institute
2010-2018
University of Basel
2009-2018
Universitat Pompeu Fabra
2016-2018
Public Health Institute
2013
University of Zurich
2010
Institute of Social and Preventive Medicine
2009
<h3>Rationale</h3> α1-Antitrypsin (AAT) deficiency is one of the commonest rare respiratory disorders worldwide. Diagnosis, assessment risk for developing chronic obstructive pulmonary disease (COPD), and management replacement therapy require availability precise updated ranges protein serum levels. <h3>Objective</h3> This paper aims to provide AAT according main genotype classes in general population. <h3>Methods</h3> The authors correlated mean levels with <i>SERPINA1</i> variants...
Several infrequent genetic polymorphisms in the SERPINA1 gene are known to substantially reduce concentration of alpha1-antitrypsin (AAT) blood. Since low AAT serum levels fail protect pulmonary tissue from enzymatic degradation, these also increase risk for early onset chronic obstructive disease (COPD). The role more common single nucleotide (SNPs) respiratory health remains poorly understood. We present here an agnostic investigation determinants circulating a general population sample by...
Asthma and chronic obstructive pulmonary disease (COPD) are thought to share a genetic background ("Dutch hypothesis"). We investigated whether asthma COPD have common underlying factors, performing genome-wide association studies for both combining the results in meta-analyses. Three loci showed potential involvement diseases: chr2p24.3, chr5q23.1 chr13q14.2, containing DDX1, COMMD10 (both participating nuclear factor (NF) κβ pathway) GNG5P5, respectively. Single nucleotide polymorphisms...
Abstract Background Whether the clinical or pathophysiologic significance of “treatable trait” high blood eosinophil count in COPD is same as for asthma remains controversial. We sought to determine relationship between count, characteristics and gene expression from bronchial brushings asthma. Methods Subjects were recruited into a (emphysema versus airway disease [EvA]) cohort (Unbiased BIOmarkers PREDiction respiratory outcomes, U‐BIOPRED). determined using RNAseq EvA (n = 283) Affymetrix...
Mucins are the main macrocomponents of mucus layer that protects digestive tract from pathogens. Fucosylation mucins increases viscoelasticity and its resistance to shear stress. These properties altered in patients with ulcerative colitis (UC), which is marked by a chronic inflammation distal part colon. Here, we show levels Fucosyltransferase 8 (FUT8) specific increased inflamed colon UC patients. Recapitulating this FUT8 overexpression mucin-producing HT29-18N2 colonic cell line delivery...
Abstract Background and Objectives Mixed‐field agglutination in ABO phenotyping (A 3 , B ) has been linked to genetically different blood cell populations such as chimerism, or rare variants either exon 7 regulatory regions. Clarification of cases is challenging would greatly benefit from sequencing technologies that allow resolving full‐gene haplotypes at high resolution. Materials Methods We used long‐read by Oxford Nanopore Technologies sequence the entire gene, amplified two overlapping...
Due to substantial improvements in read accuracy, third-generation long-read sequencing holds great potential blood group diagnostics, particularly cases where traditional genotyping or techniques, primarily targeting exons, fail explain serological phenotypes. In this study, we employed Oxford Nanopore resolve all genotype–phenotype discrepancies the Kidd system (JK, encoded by SLC14A1) observed over seven years of routine high-throughput donor using a mass spectrometry-based platform at...
Background Severe alpha1-antitrypsin (AAT) deficiency is a strong risk factor for COPD. But the impact of gene variants resulting in mild or intermediate AAT on longitudinal course respiratory health remains controversial. There indication from experimental studies that pro-inflammatory agents like cigarette smoke can interact with these and thus increase adverse effects. Therefore, we tested effect presence protease inhibitor (Pi) S Z allele (PiMS PiMZ) change lung function different...
The sheer size of the human genome makes it improbable that identical somatic mutations at exact same position are observed in multiple tumours solely by chance. scarcity cancer driver also precludes positive selection as sole explanation. Therefore, recurrent may be highly informative characteristics mutational processes. To explore potential, we use recurrence a starting point to cluster >2,500 whole genomes pan-cancer cohort. We describe each with 13 recurrence-based and 29 general...
Abstract In the era of blood group genomics, reference collections complete and fully resolved gene alleles have gained high importance. For most groups, however, such are currently lacking, as resolving full-length sequences haplotypes (ie, separated maternal/paternal origin) remains exceedingly difficult with both Sanger short-read next-generation sequencing. Using latest third-generation long-read sequencing, we generated a collection for all 6 main ABO allele groups:...
<h3>Objectives</h3> We evaluated interactions between <i>SERPINA1</i> PiMZ genotype, associated with intermediate α1-antitrysin deficiency, outdoor particulate matter ≤10 µm (PM<sub>10</sub>), and occupational exposure to vapours, dusts, gases fumes (VGDF), their effects on annual change in lung function. <h3>Methods</h3> Pre-bronchodilator spirometry was performed 3739 adults of the Swiss Cohort Study Air Pollution Lung Disease Adults (SAPALDIA) for whom genotypes were available. At...
Both air pollution and genetic variation have been shown to affect lung function. Their interaction has not studied on a genome-wide scale date.We aimed identify, in an agnostic fashion, genes that modify the association between long-term exposure annual function decline adult population-based sample.A two-stage study was performed. The discovery (n = 763) replication 3,896) samples were derived from multi-center SAPALDIA cohort (Swiss Cohort Study Air Pollution Lung Disease Adults). Annual...
Reduced exposure to particulate matter with a 50% cut-off aerodynamic diameter of 10 μm (PM<sub>10</sub>) attenuated age-related lung function decline in our cohort, particularly the small airways. We hypothesised that polymorphisms glutathione <i>S</i>-transferase (<i>GST</i>) and haem oxygenase-1 (<i>HMOX1</i>) genes, important for oxidative stress defence, modify these beneficial effects. A population-based sample 4,365 adults was followed up after 11 yrs, including questionnaire,...
Reduced exposure to particulate matter with a 50% cut-off aerodynamic diameter of 10 μm (PM<sub>10</sub>) attenuated age-related lung function decline in our cohort, particularly the small airways. We hypothesised that polymorphisms glutathione <i>S</i>-transferase (<i>GST</i>) and haem oxygenase-1 (<i>HMOX1</i>) genes, important for oxidative stress defence, modify these beneficial effects. A population-based sample 4,365 adults was followed up after 11 yrs, including questionnaire,...
Objective. The molecular mechanisms underlying the association between obesity (BMI ≥ 30 kg/m2) and asthma are poorly understood. Since shifts in fate of bronchial cells due to low-grade systemic inflammation may provide a possible explanation, we investigated whether two best documented functional variants cell cycle control genes modify obesity–asthma association. Methods. We genotyped 5930 SAPALDIA cohort participants for single-nucleotide polymorphisms (SNPs) rs9344 cyclin D1 gene...
Background: The key advantages of latest third-generation long-read sequencing (TGS) technologies include the ability to resolve long haplotypes and characterize genomic regions that are challenging analyze with short-read sequencing. Recent advancements in TGS have significantly improved accuracy, a crucial requirement for transition from research diagnostic applications. Summary: In field immunohematology, adoption is still its early stages published applications scarce. An undeniable...
Improved air quality has been found associated with attenuated age-related decline in lung function. But whether genetic polymorphisms strongly function play a modifying role this attenuation process so far not investigated. We selected ten single nucleotide derived from the largest genome-wide association studies on and examined they modified between change exposure to particulate matter ≤10μm (ΔPM10) decline. 4310 participants SAPALDIA cohort provided valid spirometry measurements,...
Abstract Background and Objectives Mixed-field agglutination in ABO phenotyping (A 3 , B ) has been linked to genetically different blood cell populations like chimerism, or rare variants either exon 7 regulatory regions. Clarification of such cases is challenging would greatly benefit from sequencing technologies that allow resolving full-gene haplotypes at high resolution. Materials Methods We used long-read by Oxford Nanopore Technologies sequence the entire gene, amplified two...