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Your search keyword '"Huyvaert, Marlène"' showing total 15 results
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15 results on '"Huyvaert, Marlène"'

1. Functional genetics reveals the contribution of delta opioid receptor to type 2 diabetes and beta-cell function

Author

Meulebrouck, Sarah, Merrheim, Judith, Queniat, Gurvan, Bourouh, Cyril, Derhourhi, Mehdi, Boissel, Mathilde, Yi, Xiaoyan, Badreddine, Alaa, Boutry, Raphaël, Leloire, Audrey, Toussaint, Bénédicte, Amanzougarene, Souhila, Vaillant, Emmanuel, Durand, Emmanuelle, Loiselle, Hélène, Huyvaert, Marlène, Dechaume, Aurélie, Scherrer, Victoria, Marchetti, Piero, Balkau, Beverley, Charpentier, Guillaume, Franc, Sylvia, Marre, Michel, Roussel, Ronan, Scharfmann, Raphaël, Cnop, Miriam, Canouil, Mickaël, Baron, Morgane, Froguel, Philippe, and Bonnefond, Amélie

Published
2024
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2. Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension

Author

Baron, Morgane, Maillet, Julie, Huyvaert, Marlène, Dechaume, Aurélie, Boutry, Raphaël, Loiselle, Hélène, and Durand, Emmanuelle

Subjects
Gene mutations -- Research, Obesity -- Genetic aspects -- Complications and side effects, Type 2 diabetes -- Complications and side effects -- Genetic aspects, Hyperglycemia -- Risk factors, Hypertension -- Risk factors, Biological sciences, Health
Abstract

The G-protein-coupled receptor accessory protein MRAP2 is implicated in energy control in rodents, notably via the melanocortin-4 receptor.sup.1. Although some MRAP2 mutations have been described in people with obesity.sup.1-3, their functional consequences on adiposity remain elusive. Using large-scale sequencing of MRAP2 in 9,418 people, we identified 23 rare heterozygous variants associated with increased obesity risk in both adults and children. Functional assessment of each variant shows that loss-of-function MRAP2 variants are pathogenic for monogenic hyperphagic obesity, hyperglycemia and hypertension. This contrasts with other monogenic forms of obesity characterized by excessive hunger, including melanocortin-4 receptor deficiency, that present with low blood pressure and normal glucose tolerance.sup.4. The pleiotropic metabolic effect of loss-of-function mutations in MRAP2 might be due to the failure of different MRAP2-regulated G-protein-coupled receptors in various tissues including pancreatic islets. Large-scale sequencing of coding exons of MRAP2 in 9,418 adults and adolescents identifies loss-of-function mutations that are associated with monogenic obesity, hypertension and hyperglycemia., Author(s): Morgane Baron [sup.1] , Julie Maillet [sup.1] , Marlène Huyvaert [sup.1] , Aurélie Dechaume [sup.1] , Raphaël Boutry [sup.1] , Hélène Loiselle [sup.1] , Emmanuelle Durand [sup.1] , Bénédicte [...]

Published
2019
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3. The expression of genes in top obesity-associated loci is enriched in insula and substantia nigra brain regions involved in addiction and reward

Author

Ndiaye, Fatou K., Huyvaert, Marlène, Ortalli, Ana, Canouil, Mickaël, Lecoeur, Cécile, Verbanck, Marie, Lobbens, Stéphane, Khamis, Amna, Marselli, Lorella, Marchetti, Piero, Kerr-Conte, Julie, Pattou, François, Marre, Michel, Roussel, Ronan, Balkau, Beverley, Froguel, Philippe, and Bonnefond, Amélie

Published
2020
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4. Low copy number of the salivary amylase gene predisposes to obesity

Author

Falchi, Mario, El-Sayed Moustafa, Julia Sarah, Takousis, Petros, Pesce, Francesco, Bonnefond, Amélie, Andersson-Assarsson, Johanna C, Sudmant, Peter H, Dorajoo, Rajkumar, Al-Shafai, Mashael Nedham, Bottolo, Leonardo, Ozdemir, Erdal, So, Hon-Cheong, Davies, Robert W, Patrice, Alexandre, Dent, Robert, Mangino, Massimo, Hysi, Pirro G, Dechaume, Aurélie, Huyvaert, Marlène, Skinner, Jane, Pigeyre, Marie, Caiazzo, Robert, Raverdy, Violeta, Vaillant, Emmanuel, Field, Sarah, Balkau, Beverley, Marre, Michel, Visvikis-Siest, Sophie, Weill, Jacques, Poulain-Godefroy, Odile, Jacobson, Peter, Sjostrom, Lars, Hammond, Christopher J, Deloukas, Panos, Sham, Pak Chung, McPherson, Ruth, Lee, Jeannette, Tai, E Shyong, Sladek, Robert, Carlsson, Lena MS, Walley, Andrew, Eichler, Evan E, Pattou, Francois, Spector, Timothy D, and Froguel, Philippe

Subjects
Biological Sciences, Genetics, Cancer, Body Mass Index, Carbohydrate Metabolism, Gene Dosage, Genetic Predisposition to Disease, Genomics, Humans, Microarray Analysis, Obesity, Odds Ratio, Salivary alpha-Amylases, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Common multi-allelic copy number variants (CNVs) appear enriched for phenotypic associations compared to their biallelic counterparts. Here we investigated the influence of gene dosage effects on adiposity through a CNV association study of gene expression levels in adipose tissue. We identified significant association of a multi-allelic CNV encompassing the salivary amylase gene (AMY1) with body mass index (BMI) and obesity, and we replicated this finding in 6,200 subjects. Increased AMY1 copy number was positively associated with both amylase gene expression (P = 2.31 × 10(-14)) and serum enzyme levels (P < 2.20 × 10(-16)), whereas reduced AMY1 copy number was associated with increased BMI (change in BMI per estimated copy = -0.15 (0.02) kg/m(2); P = 6.93 × 10(-10)) and obesity risk (odds ratio (OR) per estimated copy = 1.19, 95% confidence interval (CI) = 1.13-1.26; P = 1.46 × 10(-10)). The OR value of 1.19 per copy of AMY1 translates into about an eightfold difference in risk of obesity between subjects in the top (copy number > 9) and bottom (copy number < 4) 10% of the copy number distribution. Our study provides a first genetic link between carbohydrate metabolism and BMI and demonstrates the power of integrated genomic approaches beyond genome-wide association studies.

Published
2014

5. Expression and functional assessment of candidate type 2 diabetes susceptibility genes identify four new genes contributing to human insulin secretion

Author

Ndiaye, Fatou K., Ortalli, Ana, Canouil, Mickaël, Huyvaert, Marlène, Salazar-Cardozo, Clara, Lecoeur, Cécile, Verbanck, Marie, Pawlowski, Valérie, Boutry, Raphaël, Durand, Emmanuelle, Rabearivelo, Iandry, Sand, Olivier, Marselli, Lorella, Kerr-Conte, Julie, Chandra, Vikash, Scharfmann, Raphaël, Poulain-Godefroy, Odile, Marchetti, Piero, Pattou, François, Abderrahmani, Amar, Froguel, Philippe, and Bonnefond, Amélie

Published
2017
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8. Low-Frequency Variants in HMGA1 Are Not Associated With Type 2 Diabetes Risk

Author

Marquez, Marcel, Huyvaert, Marlène, Perry, John R.B., Pearson, Richard D., Falchi, Mario, Morris, Andrew P., Vivequin, Sidonie, Lobbens, Stéphane, Yengo, Loïc, Gaget, Stefan, Pattou, Francois, Poulain-Godefroy, Odile, Charpentier, Guillaume, Carlsson, Lena M.S., Jacobson, Peter, Sjöström, Lars, Lantieri, Olivier, Heude, Barbara, Walley, Andrew, Balkau, Beverley, Marre, Michel, Froguel, Philippe, and Cauchi, Stéphane

Published
2012
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9. The expression of genes in top obesity-associated loci is enriched in insula and substantia nigra brain regions involved in addiction and reward

Author

Ndiaye, Fatou K., primary, Huyvaert, Marlène, additional, Ortalli, Ana, additional, Canouil, Mickaël, additional, Lecoeur, Cécile, additional, Verbanck, Marie, additional, Lobbens, Stéphane, additional, Khamis, Amna, additional, Marselli, Lorella, additional, Marchetti, Piero, additional, Kerr-Conte, Julie, additional, Pattou, François, additional, Marre, Michel, additional, Roussel, Ronan, additional, Balkau, Beverley, additional, Froguel, Philippe, additional, and Bonnefond, Amélie, additional

Published
2019
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10. Identification de 4 nouveaux gènes à risque de diabète de type 2 modulant la fonction β pancréatique et l’insulino-sécrétion

Author

kiné Ndiaye, Fatou, primary, Ortalli, Ana, additional, Huyvaert, Marlène, additional, Salazar-Cardozo, Clara, additional, Canouil, Mickael, additional, Kerr-Conte, Julie, additional, Pattou, Francois, additional, Marselli, Lorella, additional, Marchetti, Piero, additional, Scharfmann, Raphael, additional, Froguel, Philippe, additional, and Bonnefond, Amélie, additional

Published
2017
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11. Loss-of-function mutations in MRAP2are pathogenic in hyperphagic obesity with hyperglycemia and hypertension

Author

Baron, Morgane, Maillet, Julie, Huyvaert, Marlène, Dechaume, Aurélie, Boutry, Raphaël, Loiselle, Hélène, Durand, Emmanuelle, Toussaint, Bénédicte, Vaillant, Emmanuel, Philippe, Julien, Thomas, Jérémy, Ghulam, Amjad, Franc, Sylvia, Charpentier, Guillaume, Borys, Jean-Michel, Lévy-Marchal, Claire, Tauber, Maïthé, Scharfmann, Raphaël, Weill, Jacques, Aubert, Cécile, Kerr-Conte, Julie, Pattou, François, Roussel, Ronan, Balkau, Beverley, Marre, Michel, Boissel, Mathilde, Derhourhi, Mehdi, Gaget, Stefan, Canouil, Mickaël, Froguel, Philippe, and Bonnefond, Amélie

Abstract

The G-protein-coupled receptor accessory protein MRAP2 is implicated in energy control in rodents, notably via the melanocortin-4 receptor1. Although some MRAP2mutations have been described in people with obesity1–3, their functional consequences on adiposity remain elusive. Using large-scale sequencing of MRAP2in 9,418 people, we identified 23 rare heterozygous variants associated with increased obesity risk in both adults and children. Functional assessment of each variant shows that loss-of-function MRAP2variants are pathogenic for monogenic hyperphagic obesity, hyperglycemia and hypertension. This contrasts with other monogenic forms of obesity characterized by excessive hunger, including melanocortin-4 receptor deficiency, that present with low blood pressure and normal glucose tolerance4. The pleiotropic metabolic effect of loss-of-function mutations in MRAP2might be due to the failure of different MRAP2-regulated G-protein-coupled receptors in various tissues including pancreatic islets.

Published
2019
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12. Beneficial effect of a high number of copies of salivary amylase AMY1 gene on obesity risk in Mexican children

Author

Mejía-Benítez, María A., primary, Bonnefond, Amélie, additional, Yengo, Loïc, additional, Huyvaert, Marlène, additional, Dechaume, Aurélie, additional, Peralta-Romero, Jesús, additional, Klünder-Klünder, Miguel, additional, García Mena, Jaime, additional, El-Sayed Moustafa, Julia S., additional, Falchi, Mario, additional, Cruz, Miguel, additional, and Froguel, Philippe, additional

Published
2014
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15. Whole-Exome Sequencing and High Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene

Author

Bonnefond, Amélie, primary, Philippe, Julien, additional, Durand, Emmanuelle, additional, Dechaume, Aurélie, additional, Huyvaert, Marlène, additional, Montagne, Louise, additional, Marre, Michel, additional, Balkau, Beverley, additional, Fajardy, Isabelle, additional, Vambergue, Anne, additional, Vatin, Vincent, additional, Delplanque, Jérôme, additional, Le Guilcher, David, additional, De Graeve, Franck, additional, Lecoeur, Cécile, additional, Sand, Olivier, additional, Vaxillaire, Martine, additional, and Froguel, Philippe, additional

Published
2012
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