A5044869906- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Biomedical Ethics and Regulation
- Genetic Mapping and Diversity in Plants and Animals
- Ethics in Clinical Research
- Spondyloarthritis Studies and Treatments
- Genetic and phenotypic traits in livestock
- Healthcare Systems and Practices
- Rheumatoid Arthritis Research and Therapies
- Nutrition, Genetics, and Disease
- Hemoglobinopathies and Related Disorders
- Gene expression and cancer classification
- Iron Metabolism and Disorders
- Folate and B Vitamins Research
- Historical and Scientific Studies
- Bioinformatics and Genomic Networks
- Race, Genetics, and Society
- BRCA gene mutations in cancer
- Pharmaceutical Economics and Policy
- Health, Medicine and Society
- Genetics and Plant Breeding
- CRISPR and Genetic Engineering
- Osteoarthritis Treatment and Mechanisms
- Opioid Use Disorder Treatment
- Cancer Genomics and Diagnostics
Centre de Recherche Médecine, Sciences, Santé, Santé Mentale, Société
2014-2024
Centre National de la Recherche Scientifique
2013-2023
Université Paris Cité
2011-2022
École des hautes études en sciences sociales
2021-2022
Institut National de Recherche en Santé Publique
2022
Inserm
2009-2021
Délégation Paris 5
2011-2013
Université Paris-Sud
2006-2012
Laboratoire d'études sur les monothéismes
2010
Université Paris-Saclay
2010
Histiocytic sarcoma (HS) refers to a highly aggressive and frequently disseminated neoplastic disease belonging the class of canine histiocytic proliferative disorders. Disseminated HS (previously called malignant histiocytosis) is breed specific, with Bernese mountain dogs (BMDs), rottweilers, retrievers having high prevalence frequency approximately 25% in BMD breed. We collected DNA samples clinical information from 800 BMDs, which 200 are affected by HS. To better characterize...
Vascular Endothelial Growth Factor (VEGF) is the main player in angiogenesis. Because of its crucial role this process, study genetic factors controlling VEGF variability may be particular interest for many angiogenesis-associated diseases. Although some polymorphisms gene have been associated with a susceptibility to several disorders, no genome-wide search on serum levels has reported so far. We carried out linkage analysis three isolated populations and we detected strong between 6p21.1...
Spondyloarthritis (SpA) is a chronic inflammatory disorder with strong genetic predisposition dominated by the role of HLA-B27. However, contribution other genes to disease susceptibility has been clearly demonstrated. We previously reported significant evidence linkage SpA chromosome 9q31–34. The current study aimed characterize this locus, named SPA2. First, we performed fine mapping SPA2 (24 cM) 28 microsatellite markers in 149 multiplex families, which allowed us reduce area...
The current challenge in biomedical research is to detect genetic risk factors involved common complex diseases. power their role generally poor populations that have been large for a long time. It has suggested the may be increased by taking advantage of specificity founder populations: linkage disequilibrium spanning larger regions and kinship coefficients being stronger than populations. A new method proposed here, Maximum Identity Length Contrast (MILC) which, contrast with other...
Abstract When the classical χ2 goodness-of-fit test for Hardy-Weinberg (HW) equilibrium is used on samples with related individuals, type I error can be greatly inflated. In particular inappropriate in population isolates where individuals are through multiple lines of descent. this article, we propose a new HW (the QL-HW test) suitable any sample including large inbred pedigrees, provided that their genealogy known. Performed conditional pedigree structure, detects departures from not due...
ABSTRACT A variable (GT) n repeat in the 5′‐regulatory region of N ‐methyl‐D‐aspartate GRIN2A subtype has recently been identified and associated with psychiatric disorders. In this study, we examined association polymorphism alcohol dependence. Subject–control analysis included 206 alcohol‐dependent 168 control subjects. Average observed numbers genotype distributions were significantly different ( P ‐value = 0.001) subjects versus Short alleles less frequent among (odds ratio 0.58, 7 × 10...
Essential hypertension (EH) affects a large proportion of the adult population in Western countries and is major risk factor for cardiovascular diseases. EH multifactorial disease with complex genetic component. To tackle complexity this component, we have initiated study Campora, an isolated village South Italy. A random sample 389 adults was genotyped very dense microsatellite genome scan phenotyped EH. Of sample, 173 affected individuals were all related through 2,180-member pedigree...
Background: Differentiated thyroid carcinoma is considered to be the nonhereditary cancer for which familial inheritance highest. To date, no aggregation analysis of this has been performed in Maohi populations, exhibit a very high incidence rate. Therefore, we evaluate risk differentiated associated with family history natives French Polynesia. Methods: We investigated first-degree relatives 225 cases carcinomas diagnosed between 1979 and 2004 patients born Polynesia, 368 randomly selected...
To obtain damage/benefit assessments of eight commonly used addictive products and one behaviour from French addiction experts link these to overall evaluations.Criteria-based evaluation by in addiction. Specific statistical modelling estimate the relative contribution various criteria formulating expert general opinion on products.Forty-eight addiction.Twelve covering whole spectrum damages benefits users society evaluated using visual analogue scales (VAS). Direct measure subjective...
Abstract This paper presents a joint position of the UK-France Genomics and Ethics Network (UK-FR GENE), which has been set up to reflect on ethical social issues arising from integration genomics into routine clinical care in UK France. In 2018, two countries announced enhanced cooperation between their national strategies, England Plan France Médecine Génomique 2025, offers unique opportunity study impact genomic medicine relevant policies different contexts. The provides first insights...
This article follows the introduction of COVID-19 polymerase chain reaction (PCR) diagnostic tests in France. It shows how, at intersection science, medicine, politics, and policy-making, test, trace, isolate (TTI) strategy played out during first months pandemic against a backcloth multiple shortages. In so doing, authors move beyond trite explanations (such as ‘French public health’s backwardness’) to highlight how successive policy inflections affected national response pandemic. The...
Abstract Background Several forms of progressive retinal atrophy (PRA) segregate in more than 100 breeds dog with each PRA segregating one or a few breeds. This breed specificity may be accounted for by founder effects and genetic drift, which have reduced the heterogeneity breed, thereby facilitating identification causal mutations. We report here new form Border Collie breed. The clinical signs, including loss night vision day vision, resulting complete blindness, occur at age three to...
OBJECTIVE—Obesity is a complex trait with variety of genetic susceptibility variants. Several loci linked to obesity and/or obesity-related traits have been identified, and relatively few regions replicated. Studying isolated populations can be useful approach identify rare variants that will not detected whole-genome association studies in large populations. RESEARCH DESIGN AND METHODS—Random individuals were sampled from Campora, an village the Cilento area South Italy, phenotyped for BMI,...