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Functional genomics of non-coding mutations in regulatory regions of four metabolic tissues, and their involvement into type 2 diabetes through large-scale sequencing

Total Cost €


EC-Contrib. €






 Reg-Seq project word cloud

Explore the words cloud of the Reg-Seq project. It provides you a very rough idea of what is the project "Reg-Seq" about.

mutations    beta    reg    variants    global    70    10    markers    epidemiology    ngs    secretion    systemic    15    action    largely    functional    tissues    muscle    putative    type    frequent    function    stratify    prediction    additional    sequences    poor    disease    clinical    morbidities    remained    organs    horizon    elucidation    alteration    resistance    responsible    diabetes    liver    rare    precision    ing    skeletal    experiments    generation    basis    missing    metabolic    translation    goals    prospective    medicine    active    investigation    progressive    unexplored    genome    adipose    tissue    populations    population    genuine       2020    t2d    islets    followed    cells    associations    health    heritability    regions    progress    altogether    physiology    phenotyped    suggested    enhancers    intend    identification    background    replication    seq    inheritance    disorder    regulatory    genetic    multifactorial    mortality    risk    coding    dna    samples    insulin    pancreatic    association    sequencing    cohorts   

Project "Reg-Seq" data sheet

The following table provides information about the project.


Organization address
address: RUE DE TOLBIAC 101
city: PARIS
postcode: 75654

contact info
title: n.a.
name: n.a.
surname: n.a.
function: n.a.
email: n.a.
telephone: n.a.
fax: n.a.

 Coordinator Country France [FR]
 Total cost 1˙500˙000 €
 EC max contribution 1˙500˙000 € (100%)
 Programme 1. H2020-EU.1.1. (EXCELLENT SCIENCE - European Research Council (ERC))
 Code Call ERC-2016-STG
 Funding Scheme ERC-STG
 Starting year 2017
 Duration (year-month-day) from 2017-05-01   to  2022-04-30


Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 


 Project objective

Type 2 diabetes (T2D) is a complex systemic metabolic disorder which has developed into a global major health problem responsible for early morbidities and mortality. T2D is a multifactorial disease, resulting from progressive alteration of insulin secretion from beta cells in pancreatic islets, on a background of resistance to insulin action in various organs and tissues, including liver, skeletal muscle and adipose tissue. T2D heritability is estimated around 40-70%. Genome-wide association studies identified more than 90 T2D-associated common variants, but altogether they explain less than 15% of T2D inheritance. Rare loss-of-function coding variants may contribute to T2D risk. Moreover, recent studies suggested the putative impact on T2D risk of functional non-coding variants within active enhancers of pancreatic islets; but tissue-specific regulatory regions have remained largely unexplored by genetic epidemiology studies. I intend to make progress in T2D genetic epidemiology and physiology by extending genetic investigation to frequent and rare mutations in non-coding regulatory regions on a whole-genome basis. In the Reg-Seq project, I propose the next-generation sequencing (NGS) of most relevant DNA regulatory sequences of four key metabolic tissues for T2D (pancreatic islets, liver, muscle and adipose tissue) in large well-phenotyped prospective populations (N=10,000 samples), followed by a replication in additional cohorts and by comprehensive functional experiments when genetic associations are identified. This project should lead to the identification of new functional genetic markers and pathways involved in T2D risk and development, and should help to stratify the T2D population for precision medicine, which is one of the major goals of the EU-Horizon 2020 programme. Further elucidation of the missing heritability should enable a major advance in the prediction of T2D risk, which is still very poor for a genuine clinical translation.


year authors and title journal last update
List of publications.
2019 Morgane Baron, Julie Maillet, Marlène Huyvaert, Aurélie Dechaume, Raphaël Boutry, Hélène Loiselle, Emmanuelle Durand, Bénédicte Toussaint, Emmanuel Vaillant, Julien Philippe, Jérémy Thomas, Amjad Ghulam, Sylvia Franc, Guillaume Charpentier, Jean-Michel Borys, Claire Lévy-Marchal, Maïthé Tauber, Raphaël Scharfmann, Jacques Weill, Cécile Aubert, Julie Kerr-Conte, François Pattou, Rona
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension
published pages: 1733-1738, ISSN: 1078-8956, DOI: 10.1038/s41591-019-0622-0
Nature Medicine 25/11 2020-01-29
2018 Louise Montagne, Mehdi Derhourhi, Amélie Piton, Bénédicte Toussaint, Emmanuelle Durand, Emmanuel Vaillant, Dorothée Thuillier, Stefan Gaget, Franck De Graeve, Iandry Rabearivelo, Amélie Lansiaux, Bruno Lenne, Sylvie Sukno, Rachel Desailloud, Miriam Cnop, Ramona Nicolescu, Lior Cohen, Jean-François Zagury, Mélanie Amouyal, Jacques Weill, Jean Muller, Olivier Sand, Bruno Delobel, Philippe Froguel, Amélie Bonnefond
CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability
published pages: 1-9, ISSN: 2212-8778, DOI: 10.1016/j.molmet.2018.05.005
Molecular Metabolism 13 2019-04-18

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