BibTex format

author = {Miguel-Escalada, I and Bonàs-Guarch, S and Cebola, I and Ponsa-Cobas, J and Mendieta-Esteban, J and Atla, G and Javierre, BM and Rolando, DMY and Farabella, I and Morgan, CC and Garcia-Hurtado, J and Beucher, A and Morán, I and Pasquali, L and Ramos-Rodríguez, M and Appel, EVR and Linneberg, A and Gjesing, AP and Witte, DR and Pedersen, O and Grarup, N and Ravassard, P and Torrents, D and Mercader, JM and Piemonti, L and Berney, T and de, Koning EJP and Kerr-Conte, J and Pattou, F and Fedko, IO and Groop, L and Prokopenko, I and Hansen, T and Marti-Renom, MA and Fraser, P and Ferrer, J},
doi = {10.1038/s41588-019-0457-0},
journal = {Nature Genetics},
pages = {1137--1148},
title = {Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes},
url = {},
volume = {51},
year = {2019}

RIS format (EndNote, RefMan)

AB - Genetic studies promise to provide insight into the molecular mechanisms underlying type 2 diabetes (T2D). Variants associated with T2D are often located in tissue-specific enhancer clustersor super-enhancers. So far, such domains have been defined through clustering of enhancers in linear genome maps rather than in 3D space. Furthermore, their target genes are often unknown. We have now created promoter capture Hi-C maps in human pancreatic islets. This linked diabetes-associated enhancers with their target genes, often located hundreds of kilobases away. It also revealed >1300 groups of islet enhancers, super-enhancers and active promoters that form 3D hubs, some of which show coordinated glucose-dependent activity. We demonstrate that genetic variation in hubs impacts insulin secret ion heritability, and show that hub annotations can be used for polygenic scores that predict T2D risk driven by islet regulatory variants. Human islet 3D chromatin architecture, therefore, provides a framework for interpretation of T2D GWAS signals.
AU - Miguel-Escalada,I
AU - Bonàs-Guarch,S
AU - Cebola,I
AU - Ponsa-Cobas,J
AU - Mendieta-Esteban,J
AU - Atla,G
AU - Javierre,BM
AU - Rolando,DMY
AU - Farabella,I
AU - Morgan,CC
AU - Garcia-Hurtado,J
AU - Beucher,A
AU - Morán,I
AU - Pasquali,L
AU - Ramos-Rodríguez,M
AU - Appel,EVR
AU - Linneberg,A
AU - Gjesing,AP
AU - Witte,DR
AU - Pedersen,O
AU - Grarup,N
AU - Ravassard,P
AU - Torrents,D
AU - Mercader,JM
AU - Piemonti,L
AU - Berney,T
AU - de,Koning EJP
AU - Kerr-Conte,J
AU - Pattou,F
AU - Fedko,IO
AU - Groop,L
AU - Prokopenko,I
AU - Hansen,T
AU - Marti-Renom,MA
AU - Fraser,P
AU - Ferrer,J
DO - 10.1038/s41588-019-0457-0
EP - 1148
PY - 2019///
SN - 1061-4036
SP - 1137
TI - Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes
T2 - Nature Genetics
UR -
UR -
UR -
VL - 51
ER -