Eleftheria Zeggini
- Genetic Associations and Epidemiology
- Osteoarthritis Treatment and Mechanisms
- Genetic Mapping and Diversity in Plants and Animals
- Cancer-related molecular mechanisms research
- Genetic and phenotypic traits in livestock
- Epigenetics and DNA Methylation
- Nutrition, Genetics, and Disease
- Bioinformatics and Genomic Networks
- Genomics and Rare Diseases
- Pancreatic function and diabetes
- RNA modifications and cancer
- Inflammatory mediators and NSAID effects
- Metabolomics and Mass Spectrometry Studies
- Diabetes and associated disorders
- Birth, Development, and Health
- Genomic variations and chromosomal abnormalities
- Cytokine Signaling Pathways and Interactions
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Liver Disease Diagnosis and Treatment
- Gene expression and cancer classification
- RNA Research and Splicing
- Cancer-related gene regulation
- Peroxisome Proliferator-Activated Receptors
- Diet and metabolism studies
- Adipose Tissue and Metabolism
Helmholtz Zentrum München
2018-2025
Klinikum rechts der Isar
2020-2025
Technical University of Munich
2020-2025
Center for Environmental Health
2018-2024
Wellcome Sanger Institute
2015-2024
Genomics (United Kingdom)
2017-2024
University of Cambridge
2010-2024
Uganda Virus Research Institute
2023
National Biotechnology Development Agency
2023
ORCID
2023
Obesity is a serious international health problem that increases the risk of several common diseases. The genetic factors predisposing to obesity are poorly understood. A genome-wide search for type 2 diabetesâsusceptibility genes identified variant in FTO (fat mass and associated) gene predisposes diabetes through an effect on body index (BMI). An additive association with BMI was replicated 13 cohorts 38,759 participants. 16% adults who homozygous allele weighed about 3 kilograms more...
The molecular mechanisms involved in the development of type 2 diabetes are poorly understood. Starting from genome-wide genotype data for 1924 diabetic cases and 2938 population controls generated by Wellcome Trust Case Control Consortium, we set out to detect replicated association signals through analysis 3757 additional 5346 integration our findings with equivalent other international consortia. We detected susceptibility loci around genes CDKAL1, CDKN2A/CDKN2B, IGF2BP2 confirmed...
The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes (high 80×) nearly 10,000 individuals population-based disease collections. In extensively phenotyped cohorts characterize over 24 million novel sequence variants, generate a highly accurate imputation reference panel identify alleles associated with levels triglycerides (APOB), adiponectin (ADIPOQ) low-density...
To characterize type 2 diabetes (T2D)-associated variation across the allele frequency spectrum, we conducted a meta-analysis of genome-wide association data from 26,676 T2D case and 132,532 control subjects European ancestry after imputation using 1000 Genomes multiethnic reference panel. Promising signals were followed up in additional sets (of 14,545 or 7,397 38,994 71,604 subjects). We identified 13 novel T2D-associated loci (P < 5 × 10-8), including variants near GLP2R, GIP, HLA-DQA1...
Given the importance of Africa to studies human origins and disease susceptibility, detailed characterization African genetic diversity is needed. The Genome Variation Project provides a resource with which design, implement interpret genomic in sub-Saharan worldwide. represents dense genotypes from 1,481 individuals whole-genome sequences 320 across Africa. Using this resource, we find novel evidence complex, regionally distinct hunter-gatherer Eurasian admixture We identify new loci under...
Clonal hemopoiesis driven by leukemia-associated gene mutations can occur without evidence of a blood disorder. To investigate this phenomenon, we interrogated 15 mutation hot spots in DNA from 4,219 individuals using ultra-deep sequencing. Using only the studied, identified clonal 0.8% under 60, rising to 19.5% those ≥90 years, thus predicting that is much more prevalent than previously realized. DNMT3A-R882 were most common and, although their prevalence increased with age, found as young...
Abstract Genome‐wide association (GWA) studies have proved to be extremely successful in identifying novel common polymorphisms contributing effects the genetic component underlying complex traits. Nevertheless, one source of, as yet, undiscovered determinants of traits are those mediated through rare variants. With increasing availability large‐scale re‐sequencing data for variant discovery, we developed a statistical method detection trait associations with these loci, based on searching...
BackgroundUnderstanding the genetic basis of airflow obstruction and smoking behaviour is key to determining pathophysiology chronic obstructive pulmonary disease (COPD). We used UK Biobank data study causes lung health.MethodsWe sampled individuals European ancestry from Biobank, middle extremes forced expiratory volume in 1 s (FEV1) distribution among heavy smokers (mean 35 pack-years) never smokers. developed a custom array for provide optimum genome-wide coverage common low-frequency...