Gaëlle Marenne
A5087103635- Genetic Associations and Epidemiology
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetic Mapping and Diversity in Plants and Animals
- Cancer Genomics and Diagnostics
- Genetic and phenotypic traits in livestock
- Pancreatic function and diabetes
- Nutrition, Genetics, and Disease
- Epigenetics and DNA Methylation
- Adipose Tissue and Metabolism
- Bioinformatics and Genomic Networks
- Metabolism, Diabetes, and Cancer
- Genomics and Chromatin Dynamics
- Gene expression and cancer classification
- Forensic and Genetic Research
- Cancer-related molecular mechanisms research
- Diabetes Treatment and Management
- Regulation of Appetite and Obesity
- Molecular Biology Techniques and Applications
- Diet and metabolism studies
- DNA Repair Mechanisms
- RNA modifications and cancer
- Peroxisome Proliferator-Activated Receptors
- Lipid metabolism and disorders
- Bladder and Urothelial Cancer Treatments
École nationale d'ingénieurs de Brest
2019-2024
Université de Bretagne Occidentale
2019-2024
Inserm
2008-2024
Génétique, Génomique Fonctionnelle et Biotechnologies
2021-2024
Centre Hospitalier Régional Universitaire de Brest
2021-2024
Wellcome Sanger Institute
2014-2023
Spanish National Cancer Research Centre
2009-2019
Centro de Investigación del Cáncer
2012-2014
Université Paris Cité
2010-2013
Délégation Paris 7
2010-2013
A missense variant in GLP1R associated with lower fasting glucose levels and protective against T2D is risk of coronary heart disease, suggesting that agonists are not an unacceptable increase cardiovascular risk.
Abstract Obesity is a genetically heterogeneous disorder. Using targeted and whole-exome sequencing, we studied 32 human 87 rodent obesity genes in 2,548 severely obese children 1,117 controls. We identified 52 variants contributing to 2% of cases including multiple novel GNAS , which were sometimes found with accelerated growth rather than short stature as described previously. Nominally significant associations for rare functional BBS1 BBS9 MKKS CLOCK ANGPTL6 . The p.S284X variant drives...
Obesity is genetically heterogeneous with monogenic and complex polygenic forms. Using exome targeted sequencing in 2,737 severely obese cases 6,704 controls, we identified three genes (PHIP, DGKI, ZMYM4) an excess burden of very rare predicted deleterious variants cases. In cells, found that nuclear PHIP (pleckstrin homology domain interacting protein) directly enhances transcription pro-opiomelanocortin (POMC), a neuropeptide suppresses appetite. Obesity-associated repressed POMC...
High-throughput single nucleotide polymorphism (SNP)-array technologies allow to investigate copy number variants (CNVs) in genome-wide scans and specific calling algorithms have been developed determine CNV location number. We report the results of a reliability analysis comparing data from 96 pairs samples processed with CNVpartition, PennCNV, QuantiSNP for Infinium Illumina Human 1Million probe chip data. also performed validity assessment multiplex ligation-dependent amplification (MLPA)...
Abstract Imputation servers offer the exclusive possibility to harness largest public reference panels which have been shown deliver very high precision in imputation of European genomes. Many studies nonetheless stressed importance ‘study specific panels’ (SSPs) as an alternative and benefits combining with SSPs. But such combined approaches are not attainable when using external servers. To investigate how confront this challenge, we imputed 550 French individuals either University...
Recently, a number of studies have looked at the problem privacy and data-sharing restrictions in context missing genotype imputation servers. This relates to most typical pipelines which involve whole-genome sequenced haplotype reference panel being compared genotyped study individuals (who data be imputed). Hence, involving two datasets from separate sources coming together one informatic environment, where relatively complicated statistical models are applied; specifically, hidden Markov...
Single-nucleotide variants (SNVs) within gene coding sequences can significantly impact pre-mRNA splicing, bearing profound implications for pathogenic mechanisms and precision medicine. In this study, we aim to harness the well-established full-length splicing assay (FLGSA) in conjunction with SpliceAI prospectively interpret effects of all potential SNVs four-exon SPINK1 gene, a associated chronic pancreatitis.
Obesity rates have nearly tripled in the past 50 years, and by 2030 more than 1 billion individuals worldwide are projected to be obese. This creates a significant economic strain due associated non-communicable diseases. The root cause is an energy expenditure imbalance, owing interplay of lifestyle, environmental, genetic factors. has polygenic architecture; however, single variants with large effect size etiological minority cases. These allowed discovery novel genes biology relevant...
The demographical history of France remains largely understudied despite its central role toward understanding modern population structure across Western Europe. Here, by exploring publicly available Europe-wide genotype datasets together with the genomes 3234 present-day and six newly sequenced medieval individuals from Northern France, we found extensive fine-scale Brittany downstream Loire basin increased differentiation between northern southern sides river Loire, associated higher...
The majority of patients with a familial cerebral small vessel disease (CSVD) referred for molecular screening do not show pathogenic variants in known genes. In this study, we aimed to identify novel CSVD causal genes.We performed gene-based collapsing test rare protein-truncating identified exome data 258 unrelated an ethnically matched control cohort and 2 publicly available large-scale databases, gnomAD TOPMed. Western blotting was used investigate the functional consequences variants....
Abstract Background Structural variations such as copy number variants (CNV) influence the expression of different phenotypic traits. Algorithms to identify CNVs through SNP-array platforms are available. The ability evaluate well-characterized GSTM1 (1p13.3) deletion provides an important opportunity assess their performance. Results 773 cases and 759 controls from SBC/EPICURO Study were genotyped in region using TaqMan, Multiplex Ligation-dependent Probe Amplification (MLPA), Illumina...
Rare variant association tests (RVAT) have been developed to study the contribution of rare variants widely accessible through high-throughput sequencing technologies. RVAT require aggregate in testing units and filter retain only most likely causal ones. In exome, genes are natural usually filtered based on their functional consequences. However, when dealing with whole-genome sequence (WGS) data, both steps challenging. No biological unit is available for aggregating variants. Sliding...
To build a predictive model for urothelial carcinoma of the bladder (UCB) risk combining both genomic and nongenomic data, 1,127 cases 1,090 controls from Spanish Bladder Cancer/EPICURO study were genotyped using HumanHap 1M SNP array. After quality control filters, genotypes 475,290 variants available. Nongenomic information comprised age, gender, region, smoking status. Three Bayesian threshold models implemented including: (1) only information, (2) (3) sources information. The three...
Genetic association studies have provided new insights into the genetic variability of human complex traits with a focus mainly on continuous or binary traits. Methods been proposed to take account disease heterogeneity between subgroups patients when studying common variants but none was specifically designed for rare variants. Because are expected stronger effects and be more heterogeneously distributed among cases than ones, subgroup analyses might particularly attractive in this context....
Summary Metabolic dysregulation in multiple tissues alters glucose homeostasis and influences risk for type 2 diabetes (T2D). To identify pathways influencing T2D-relevant glycemic traits (fasting [FG], fasting insulin [FI], two-hour [2hGlu] glycated hemoglobin [HbA1c]), we investigated associations of exome-array variants up to 144,060 individuals without ancestries. Single-variant analyses identified novel at 21 coding 18 loci, whilst gene-based tests revealed signals two genes, TF (HbA1c)...
Abstract Glycaemic traits are used to diagnose and monitor type 2 diabetes, cardiometabolic health. To date, most genetic studies of glycaemic have focused on individuals European ancestry. Here, we aggregated genome-wide association in up 281,416 without diabetes (30% non-European ancestry) with fasting glucose, 2h-glucose post-challenge, glycated haemoglobin, insulin data. Trans-ancestry single-ancestry meta-analyses identified 242 loci (99 novel; P <5×10 -8 ), 80% no significant...
Abstract European genetic ancestry originates from three main ancestral populations - Western hunter-gatherers, early farmers and Yamnaya Eurasian herders whose edges geographically met in present-day France. Despite its central role to our understanding of how the interacted gave rise modern population structure, history France has remained largely understudied. Here, we analysed high-coverage whole-genome sequences genome-wide genotype profiles respectively 856 3,234 individuals northern...