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502 results on '"Loriot, Marie-Anne"'

1. Dihydropyrimidine dehydrogenase gene variants for predicting grade 4-5 fluoropyrimidine-induced toxicity: FUSAFE individual patient data meta-analysis

Author

Le Teuff, Gwénaël, Cozic, Nathalie, Boyer, Jean-Christophe, Boige, Valérie, Diasio, Robert B., Taieb, Julien, Meulendijks, Didier, Palles, Claire, Schwab, Matthias, Deenen, Maarten, Largiadèr, Carlo R., Marinaki, Anthony, Jennings, Barbara A., Wettergren, Yvonne, Di Paolo, Antonello, Gross, Eva, Budai, Barna, Ackland, Stephen P., van Kuilenburg, André B. P., McLeod, Howard L., Milano, Gérard, Thomas, Fabienne, Loriot, Marie-Anne, Kerr, David, Schellens, Jan H. M., Laurent-Puig, Pierre, Shi, Qian, Pignon, Jean-Pierre, and Etienne-Grimaldi, Marie-Christine

Published
2024
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8. Can we identify patients carrying targeted deleterious DPYD variants with plasma uracil and dihydrouracil? A GPCO-RNPGx retrospective analysis.

Author

Launay, Manon, Raymond, Laure, Guitton, Jérôme, Loriot, Marie-Anne, Chatelut, Etienne, Haufroid, Vincent, Thomas, Fabienne, and Etienne-Grimaldi, Marie-Christine

Subjects
DIHYDROPYRIMIDINE dehydrogenase, URACIL, PHENOTYPES, GENOTYPES, RETROSPECTIVE studies
Abstract

Dihydropyrimidine dehydrogenase (DPD) deficiency is the main cause of severe fluoropyrimidine-related toxicities. The best strategy for identifying DPD-deficient patients is still not defined. The EMA recommends targeted DPYD genotyping or uracilemia (U) testing. We analyzed the concordance between both approaches. This study included 19,376 consecutive French patients with pre-treatment plasma U, UH2 and targeted DPYD genotyping (*2A, *13, D949V, *7) analyzed at Eurofins Biomnis (2015–2022). Mean U was 9.9 ± 10.1 ng/mL (median 8.7, range 1.6–856). According to French recommendations, 7.3 % of patients were partially deficient (U 16–150 ng/mL) and 0.02 % completely deficient (U≥150 ng/mL). DPYD variant frequencies were *2A: 0.83 %, *13: 0.17 %, D949V: 1.16 %, *7: 0.05 % (2 homozygous patients with U at 22 and 856 ng/mL). Variant carriers exhibited higher U (median 13.8 vs. 8.6 ng/mL), and lower UH2/U (median 7.2 vs. 11.8) and UH2/U2 (median 0.54 vs. 1.37) relative to wild-type patients (p<0.00001). Sixty-six% of variant carriers exhibited uracilemia <16 ng/mL, challenging correct identification of DPD deficiency based on U. The sensitivity (% patients with a deficient phenotype among variant carriers) of U threshold at 16 ng/mL was 34 %. The best discriminant marker for identifying variant carriers was UH2/U2. UH2/U2<0.942 (29.7 % of patients) showed enhanced sensitivity (81 %) in identifying deleterious genotypes across different variants compared to 16 ng/mL U. These results reaffirm the poor concordance between DPD phenotyping and genotyping, suggesting that both approaches may be complementary and that targeted DPYD genotyping is not sufficiently reliable to identify all patients with complete deficiency. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Smoking and Parkinson disease

Author

Lee, Pei-Chen, Ahmed, Ismaïl, Loriot, Marie-Anne, Mulot, Claire, Paul, Kimberly C, Bronstein, Jeff M, Ritz, Beate, and Elbaz, Alexis

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Tobacco, Brain Disorders, Tobacco Smoke and Health, Parkinson's Disease, Prevention, Genetics, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Adult, Aged, Aged, 80 and over, Bayes Theorem, Case-Control Studies, Female, Gene-Environment Interaction, Genetic Association Studies, Genetic Predisposition to Disease, Heterozygote, Humans, Male, Middle Aged, Parkinson Disease, Polymorphism, Single Nucleotide, Retinoid X Receptor alpha, Smoking, Vesicular Glutamate Transport Protein 2, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveTo investigate whether cigarette smoking interacts with genes involved in individual susceptibility to xenobiotics for the risk of Parkinson disease (PD).MethodsTwo French population-based case-control studies (513 patients, 1,147 controls) were included as a discovery sample to examine gene-smoking interactions based on 3,179 single nucleotide polymorphisms (SNPs) in 289 genes involved in individual susceptibility to xenobiotics. SNP-by-cigarette smoking interactions were tested in the discovery sample through an empirical Bayes (EB) approach. Nine SNPs were selected for replication in a population-based case-control study from California (410 patients, 845 controls) with standard logistic regression and the EB approach. For SNPs that replicated, we performed pooled analyses including the discovery and replication datasets and computed pooled odds ratios and confidence intervals (CIs) using random-effects meta-analysis.ResultsNine SNPs interacted with smoking in the discovery dataset and were selected for replication. Interactions of smoking with rs4240705 in the RXRA gene and rs1900586 in the SLC17A6 gene were replicated. In pooled analyses (logistic regression), the interactions between smoking and rs4240705-G and rs1900586-G were 1.66 (95% CI 1.28-2.14, p = 1.1 × 10-4, p for heterogeneity = 0.366) and 1.61 (95% CI 1.17-2.21, p = 0.003, p for heterogeneity = 0.616), respectively. For both SNPs, while smoking was significantly less frequent in patients than controls in AA homozygotes, this inverse association disappeared in G allele carriers.ConclusionsWe identified and replicated suggestive gene-by-smoking interactions in PD. The inverse association of smoking with PD was less pronounced in carriers of minor alleles of both RXRA-rs4240705 and SLC17A6-rs1900586. These findings may help identify biological pathways involved in the inverse association between smoking and PD.

Published
2018

12. Reply to: "Is uracil enough for effective pre-emptive DPD testing?".

Author

Thomas, Fabienne, Launay, Manon, Raymond, Laure, Guitton, Jérôme, Loriot, Marie-Anne, Chatelut, Etienne, Haufroid, Vincent, and Etienne-Grimaldi, Marie-Christine

Subjects
GENETIC variation, HAPLOTYPES, GENE frequency, DNA sequencing, FUNCTIONAL analysis
Abstract

This document is a reply to a letter discussing the effectiveness of uracil for pre-emptive DPD testing. The authors acknowledge the limitations of their study, including the omission of testing for haplotype B3 and the lack of information on renal and liver functions. They disagree with the assumption that a non-detectable UH2 is necessary for a true DPD deficient status. The authors suggest that a combination of indirect phenotyping and extended genotyping may improve the identification of patients at risk for severe fluoropyrimidine toxicity. [Extracted from the article]

Published
2024
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14. CYP2C9, VKORC1, and CYP4F2 polymorphisms and pediatric warfarin maintenance dose: a systematic review and meta-analysis

Author

Takeuchi, Masanobu, Kobayashi, Tohru, Biss, Tina, Kamali, Farhad, Vear, Susan I., Ho, Richard H., Bajolle, Fanny, Loriot, Marie-Anne, Shaw, Kaitlyn, Carleton, Bruce C., Hamberg, Anna-Karin, Wadelius, Mia, Hirono, Keiichi, Taguchi, Masato, Wakamiya, Takuya, Yanagimachi, Masakatsu, Hirai, Keita, Itoh, Kunihiko, Brandão, Leonardo R., and Ito, Shinya

Published
2020
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17. Intérêts et limites de la recherche du déficit en dihydropyrimidine déshydrogénase dans le suivi des patients traités par fluoropyrimidines : résultats de deux enquêtes nationales de pratiques réalisées auprès des médecins et des biologistes

Author

Loriot, Marie-Anne, Masskouri, Fadil, Carni, Paolo, Le Malicot, Karine, Seitz, Jean-François, Michel, Pierre, Legoux, Jean-Louis, Bouché, Olivier, André, Thierry, Faroux, Roger, Delaloge, Suzette, Malka, David, Guigay, Joel, Thariat, Juliette, Thomas, Fabienne, Barin-Le-Guellec, Chantal, Ciccolini, Joseph, Boyer, Jean-Christophe, and Étienne-Grimaldi, Marie-Christine

Published
2019
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18. Pooled analysis of iron-related genes in Parkinson's disease: Association with transferrin

Author

Rhodes, Shannon L, Buchanan, Daniel D, Ahmed, Ismaïl, Taylor, Kent D, Loriot, Marie-Anne, Sinsheimer, Janet S, Bronstein, Jeff M, Elbaz, Alexis, Mellick, George D, Rotter, Jerome I, and Ritz, Beate

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Parkinson's Disease, Neurosciences, Aging, Neurodegenerative, 2.1 Biological and endogenous factors, Neurological, Adolescent, Adult, Aged, Case-Control Studies, Female, Genetic Association Studies, Humans, Iron, Male, Middle Aged, Parkinson Disease, Polymorphism, Single Nucleotide, Receptors, Transferrin, Transferrin, Young Adult, Epidemiology, Pooled-analysis, Iron homeostasis, Transferrin receptor 2, Clinical Sciences, Neurology & Neurosurgery, Biochemistry and cell biology
Abstract

Pathologic features of Parkinson's disease (PD) include death of dopaminergic neurons in the substantia nigra, presence of α-synuclein containing Lewy bodies, and iron accumulation in PD-related brain regions. The observed iron accumulation may be contributing to PD etiology but it also may be a byproduct of cell death or cellular dysfunction. To elucidate the possible role of iron accumulation in PD, we investigated genetic variation in 16 genes related to iron homeostasis in three case-control studies from the United States, Australia, and France. After screening 90 haplotype tagging single nucleotide polymorphisms (SNPs) within the genes of interest in the US study population, we investigated the five most promising gene regions in two additional independent case-control studies. For the pooled data set (1289 cases, 1391 controls) we observed a protective association (OR=0.83, 95% CI: 0.71-0.96) between PD and a haplotype composed of the A allele at rs1880669 and the T allele at rs1049296 in transferrin (TF; GeneID: 7018). Additionally, we observed a suggestive protective association (OR=0.87, 95% CI: 0.74-1.02) between PD and a haplotype composed of the G allele at rs10247962 and the A allele at rs4434553 in transferrin receptor 2 (TFR2; GeneID: 7036). We observed no associations in our pooled sample for haplotypes in SLC40A1, CYB561, or HFE. Taken together with previous findings in model systems, our results suggest that TF or a TF-TFR2 complex may have a role in the etiology of PD, possibly through iron misregulation or mitochondrial dysfunction within dopaminergic neurons.

Published
2014

22. Plasma lipidomic analysis to investigate putative biomarkers of P‐glycoprotein activity in healthy volunteers

Author

Decaix, Théodore, primary, Magny, Romain, additional, Gouin‐Thibaut, Isabelle, additional, Delavenne, Xavier, additional, Mismetti, Patrick, additional, Salem, Joe‐Elie, additional, Narjoz, Céline, additional, Blanchard, Anne, additional, Pépin, Marion, additional, Auzeil, Nicolas, additional, Loriot, Marie‐Anne, additional, and Laprévote, Olivier, additional

Published
2023
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32. Imbalance between alpha-1-antitrypsin and interleukin 6 is associated with in-hospital mortality and thrombosis during COVID-19

Author

Philippe, Aurélien, primary, Puel, Mathilde, additional, Narjoz, Céline, additional, Gendron, Nicolas, additional, Durey-Dragon, Marie Agnès, additional, Vedie, Benoit, additional, Balduyck, Malika, additional, Chocron, Richard, additional, Hauw-Berlemont, Caroline, additional, Sanchez, Olivier, additional, Mirault, Tristan, additional, Diehl, Jean-Luc, additional, Smadja, David M., additional, and Loriot, Marie Anne, additional

Published
2022
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33. Plasma Uracil as a DPD Phenotyping Test: Pre-Analytical Handling Matters!

Author

Thomas, Fabienne, Launay, Manon, Guitton, Jérôme, Loriot, Marie-Anne, Boyer, Jean-Christophe, Haufroid, Vincent, Etienne-Grimaldi, Marie-Christine, Royer, Bernard, GPCO-UNICANCER Group, UCL - SSS/IREC/LTAP - Louvain Centre for Toxicology and Applied Pharmacology, and UCL - (SLuc) Service de biochimie médicale

Subjects
Pharmacology, Dihydropyrimidine Dehydrogenase Deficiency, Humans, Pharmacology (medical), Fluorouracil, Uracil, Dihydrouracil Dehydrogenase (NADP)
Abstract

To the Editor: We read with interest the article by de With et al. reporting the results of a prospective multicenter study where pretreatment uracil blood samples were collected and handled in 17 Dutch hospitals but analyzed in the reference hospital. [...]

Published
2022

49. Collection of human genomic DNA from buccal cells for genetics studies: comparison between cytobrush, mouthwash, and treated card

Author

Mulot, Claire, Stucker, Isabelle, Clavel, Jacqueline, Beaune, Philippe, and Loriot, Marie-Anne

Subjects
Research, Genetics -- Research, DNA -- Research, Epidemiology -- Research, Genomics -- Research
Abstract

Alternative sources such as buccal cells have already been tested for genetic studies and epidemiological investigations. Thirty-seven volunteers participated in this study to compare cytology brushes, mouthwash, and treated cards [...]

Published
2005

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