88 research outputs found
Ăvaluation de la contribution de gĂšnes de susceptibilitĂ© et de gĂšnes candidats du cancer du sein chez des familles canadiennes françaises Ă risque Ă©levĂ©
Le cancer du sein est une maladie comportant à la fois une composante environnementale et une composante génétique. Dans le cadre de mes études doctorales je me suis intéressé à la composante génétique du cancer du sein. Puisque la distribution de l'héritabilité chez les familles présentant plusieurs cas de cancer du sein suggÚre la prédominance de facteurs génétiques afin d'expliquer l'agrégation familiale de ce type de cancer, mes études ont porté sur des cas de cancer du sein provenant de familles à risque élevé non porteuses de mutations délétÚres dans les gÚnes BRCA1 et BRCA2. Deux volets principaux ont été abordés. Le premier volet, intitulé ± évaluation de la contribution de gÚnes de susceptibilité au cancer du sein ¿, m'a amené à évaluer la contribution des gÚnes de susceptibilité à forte penetrance PTENet STK11. Ces gÚnes sont respectivement responsables des syndromes de Cowden et de Peutz-Jeghers avec lesquels un risque accru de cancer du sein a été associé. Trois autres gÚnes de susceptibilité au cancer du sein, soit CHEK2, BRIP1 et PALB2, ont également été analysés. Des mutations dans ces gÚnes confÚrent un risque modéré de cancer du sein.Lors du deuxiÚme volet de mon projet, "identification de gÚnes de susceptibilité au cancer du sein", quatre gÚnes candidats du cancer du sein ont été analysés. Ces gÚnes ont été sélectionnés sur la base de leur interaction avec BRCA1. En effet, puisque les protéines encodées par ces gÚnes interagissent avec BRCA1, elles pourraient réguler ses diverses fonctions. Les gÚnes AURKA, BAP1, BARD1 et DHX9, encodant respectivement une kinase, une ubiquitine hydrolase, une ubiquitine ligase et une hélicase à ARN, ont été sélectionnés pour leur rÎle possible dans la modulation de l'activité de BRCA1 dans la réparation couplée à la transcription. L'étude de ces gÚnes a permis de mettre en évidence une implication possible d'un variant de BARD1 dans la susceptibilité au cancer du sein. L'étude de ces gÚnes a permis d'acquérir une meilleure connaissance de la contribution de ceux-ci à la susceptibilité au cancer du sein chez les familles à risque élevé provenant de la population canadienne-française
Reconstructing Plants in 3D from a Single Image Using Analysis-by-Synthesis
International audienceMature computer vision techniques allow the reconstruction of challenging 3D objects from images. However, due to high complexity of plant topology, dedicated methods for generating 3D plant models must be devised. We propose to generate a 3D model of a plant, using an analysis-by-synthesis method mixing information from a single image and a priori knowledge of the plant species. First, our dedicated skeletonisation algorithm generates a possible branch- ing structure from the foliage segmentation. Then, a 3D generative model, based on a parametric model of branching systems that takes into ac- count botanical knowledge is built. The resulting skeleton follows the hierarchical organisation of natural branching structures. An instance of a 3D model can be generated. Moreover, varying parameter values of the generative model (main branching structure of the plant and foliage), we produce a series of candidate models. The reconstruction is improved by selecting the model among these proposals based on a matching criterion with the image. Realistic results obtained on di erent species of plants illustrate the performance of the proposed method
Reconstruction de modĂšles virtuels de vignes Ă partir d'images
National audienceWe propose a method for recontructing virtual model of vines from images. For this, an analysis by synthesis method is used and consist in characterizing an image using a number of a priori knowledge about the 3D scene. Initially, we get an approximation of the plant modeled in 3D. Then, comparing its reprojection with the original image, we refine this model though an iterative optimisation process. To be efficient, our method do not optimize positionning of individual leaves but rather a realistic foliage consistent with the images.Nous prĂ©sentons ici une mĂ©thode de reconstruction de modĂšles virtuels de pieds de vignes Ă partir d'images. Pour cela, nous utilisons une technique d'analyse par synthĂšse qui consiste Ă caractĂ©riser une image Ă partir d'un certain nombre de connaissances a priori sur la scĂšne 3D. Tout d'abord, Ă partir d'une premiĂšre analyse des images, nous obtenons une approximation initiale de la plante modĂ©lisĂ©e en 3D. Puis, nous affinons cette modĂ©lisation par un processus d'optimisation oĂč la projection du modĂšle reconstruit est comparĂ©e avec l'image d'origine. Pour ĂȘtre efficace, notre mĂ©thode n'optimise pas le positionnement de chacune des feuilles mais un feuillage rĂ©aliste et cohĂ©rent avec les images
Modélisation de vignes à partir d'une séquence d'images
National audienceCet article présente des travaux sur la modélisation de plantes à géométries fortement contraintes à partir d'images. A partir de séquences d'images acquises dans un vignoble, nous instancions un modÚle paramétré des parcelles, des rangs, et des pieds de vignes. Le modÚle est déduit des connaissances a priori ; à partir des images, des paramÚtres sont extraits. Ces paramÚtres sont ensuite fournis au modÚle qui génÚre une représentation de la plante, du rang ou de la parcelle filmée
Acute effects of single doses of bonito fish peptides and vitamin D on whole blood gene expression levels : a randomized controlled trial
Fish contains high quality proteins and essential nutrients including 25-hydroxyvitamin
D (25(OH)D). Fish peptide consumption can lower cardiovascular disease (CVD) risk factors, and
studies have shown an association between 25(OH)D deficiency, CVD and CVD risk factors, such
as diabetes. This study investigated acute effects of a single dose of cholecalciferol (VitD3), bonito
fish peptide hydrolysate (BPH), or a combination of both on CVD risk factors and whole blood
gene expression levels. A randomized, crossover, placebo controlled trial was conducted in 22
adults. They ingested, in random order and at 7-day intervals, 1000 IU of VitD3, 3 g of BPH, a
combination of both, or a placebo. A 180 min oral glucose tolerance test was performed. Differences
in whole-genome expression levels after versus before each supplementation were computed for 18
subjects. We observed that 16, 1 and 5 transcripts were differentially expressed post- vs. pre-ingestion
for VitD3, BPH or VitD3 + BPH treatments, respectively. VitD3-containing treatments affected the
expression of the solute carrier family 25 member 20 (SLC25A20) gene involved in fatty acid oxidation,
various transcription factors and genes related to glucose metabolism. These results suggest that
VitD3 rapidly modulates genes related to CVD risk factors in blood while BPH seems to moderately
modulate gene expression levels
Genetic and common environmental contributions to familial resemblances in plasma carotenoid concentrations in healthy families
Carotenoids have shown an interindividual variability that may be due to genetic factors.
The only study that has reported heritability of serum α- and ÎČ-carotene has not considered the
environmental component. This study aimed to estimate the contribution of both genetic and
common environmental effects to the variance of carotenoid concentrations and to test whether
their phenotypic correlations with cardiometabolic risk factors are explained by shared genetic and
environmental effects. Plasma carotenoid concentrations (α-carotene, ÎČ-carotene, ÎČ-cryptoxanthin,
lutein, lycopene, zeaxanthin, and total carotenoids) of 48 healthy subjects were measured. Heritability
estimates of carotenoid concentrations were calculated using the variance component method.
Lutein and lycopene showed a significant familial effect (p = 6 Ă 10â6 and 0.0043, respectively).
Maximal heritability, genetic heritability, and common environmental effect were computed for
lutein (88.3%, 43.8%, and 44.5%, respectively) and lycopene (45.2%, 0%, and 45.2%, respectively).
Significant phenotypic correlations between carotenoid concentrations and cardiometabolic risk
factors were obtained for ÎČ-cryptoxanthin, lycopene, and zeaxanthin. Familial resemblances in
lycopene concentrations were mainly attributable to common environmental effects, while for lutein
concentrations they were attributable to genetic and common environmental effects. Common genetic
and environmental factors may influence carotenoids and cardiometabolic risk factors, but further
studies are needed to better understand the potential impact on disease development
Weighted gene co-expression network analysis to explain the relationship between plasma total carotenoids and lipid profile
Background: Variability in circulating carotenoids may be attributable to several factors including, among others,
genetic variants and lipid profile. However, relatively few studies have considered the impact of gene expression in
the inter-individual variability in circulating carotenoids. Most studies considered expression of genes individually
and ignored their high degree of interconnection. Weighted gene co-expression network analysis (WGCNA) is a
systems biology method used for finding gene clusters with highly correlated expression levels and for relating
them to phenotypic traits. The objective of the present observational study is to examine the relationship between
plasma total carotenoid concentrations and lipid profile using WGCNA.
Results: Whole blood expression levels of 533 probes were associated with plasma total carotenoids. Among the
four WGCNA distinct modules identified, turquoise, blue, and brown modules correlated with plasma high-density
lipoprotein cholesterol (HDL-C) and total cholesterol. Probes showing a strong association with HDL-C and total
cholesterol were also the most important elements of the brown and blue modules. A total of four and 29 hub
genes associated with total carotenoids were potentially related to HDL-C and total cholesterol, respectively.
Conclusions: Expression levels of 533 probes were associated with plasma total carotenoid concentrations. Using
WGCNA, four modules and several hub genes related to lipid and carotenoid metabolism were identified. This
integrative analysis provides evidence for the potential role of gene co-expression in the relationship between
carotenoids and lipid concentrations. Further studies and validation of the hub genes are needed
Network Analysis of the potential role of DNA methylation in the relationship between plasma carotenoids and lipid profile
Abstract: Variability in plasma carotenoids may be attributable to several factors including genetic
variants and lipid profile. Until now, the impact of DNA methylation on this variability has not
been widely studied. Weighted gene correlation network analysis (WGCNA) is a systems biology
method used for finding gene clusters (modules) with highly correlated methylation levels and for
relating them to phenotypic traits. The objective of the present study was to examine the role of DNA
methylation in the relationship between plasma total carotenoid concentrations and lipid profile
using WGCNA in 48 healthy subjects. Genome-wide DNA methylation levels of 20,687 out of 472,245
CpG sites in blood leukocytes were associated with total carotenoid concentrations. Using WGCNA,
nine co-methylation modules were identified. A total of 2734 hub genes (17 unique top hub genes)
were potentially related to lipid profile. This study provides evidence for the potential implications
of gene co-methylation in the relationship between plasma carotenoids and lipid profile. Further
studies and validation of the hub genes are needed
Genome-wide association study of dietary pattern scores
Dietary patterns, representing global food supplies rather than specific nutrients or food intakes, have been associated with cardiovascular disease (CVD) incidence and mortality. The contribution of genetic factors in the determination of food intakes, preferences and dietary patterns has been previously established. The current study aimed to identify novel genetic factors associated with reported dietary pattern scores. Reported dietary patterns scores were derived from reported dietary intakes for the preceding month and were obtained through a food frequency questionnaire and genome-wide association study (GWAS) conducted in a study sample of 141 individuals. Reported Prudent and Western dietary patterns demonstrated nominal associations (p < 1 Ă 10â5) with 78 and 27 single nucleotide polymorphisms (SNPs), respectively. Among these, SNPs annotated to genes previously associated with neurological disorders, CVD risk factors and obesity were identified. Further assessment of SNPs demonstrated an impact on gene expression levels in blood for SNPs located within/near BCKDHB (p = 0.02) and the hypothalamic glucosensor PFKFB3 (p = 0.0004) genes, potentially mediated through an impact on the binding of transcription factors (TFs). Overrepresentations of glucose/energy homeostasis and hormone response TFs were also observed from SNP-surrounding sequences. Results from the current GWAS study suggest an interplay of genes involved in the metabolic response to dietary patterns on obesity, glucose metabolism and food-induced response in the brain in the adoption of dietary patterns
Structure determination of the (3sqrt{3}x3sqrt{3}) reconstructed alpha-Al_2O_3(0001)
Grazing-incidence X-ray diffraction data are combined with
energy-minimization calculations to analyse the atomic structure of the Al-rich
(3sqrt{3} x 3sqrt{3})R 30 deg reconstructed surface of sapphire
alpha-Al_2O_3(0001). The experiments on the BM32 beamline of the ESRF provide
the non-integer-order diffraction intensities and, after Fourier transform, an
incomplete Patterson map. The computer simulations are implemented to obtain
structural information from this map. In the simulations, the interactions
between the Al overlayer atoms were described with the Sutton-Chen potential
and the interactions between the overlayer and the sapphire substrate with a
laterally modulated Lennard-Jones potential. We have shown that the hexagonal
reconstructed unit cell is composed of triangles where the two layers of Al
adatoms are FCC(111) ordered whereas between the triangles the stacking is
FCC(001).Comment: 9 pages, incl. 4 figures; submitted to Surface Science Letter
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