Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Adult forms of inflammatory bowel disease (IBD) are of a polygenic nature, but paediatric and very early onset (VEO) IBD also occur as monogenic forms. Here, using whole exome sequencing, the authors explore both the monogenic and polygenic contribution to VEO-IBD and characterize a rare somatic mos...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Eva Gonçalves Serra, Tobias Schwerd, Loukas Moutsianas, Athena Cavounidis, Laura Fachal, Sumeet Pandey, Jochen Kammermeier, Nicholas M. Croft, Carsten Posovszky, Astor Rodrigues, Richard K. Russell, Farah Barakat, Marcus K. H. Auth, Robert Heuschkel, Matthias Zilbauer, Krzysztof Fyderek, Christian Braegger, Simon P. Travis, Jack Satsangi, Miles Parkes, Nikhil Thapar, Helen Ferry, Julie C. Matte, Kimberly C. Gilmour, Andrzej Wedrychowicz, Peter Sullivan, Carmel Moore, Jennifer Sambrook, Willem Ouwehand, David Roberts, John Danesh, Toni A. Baeumler, Tudor A. Fulga, Mohammad Karaminejadranjbar, Ahmed Ahmed, Rachel Wilson, Jeffrey C. Barrett, Abdul Elkadri, Anne M. Griffiths, COLORS in IBD group investigators, Oxford IBD cohort study investigators, INTERVAL Study, Swiss IBD cohort investigators, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, Scott B. Snapper, Neil Shah, Aleixo M. Muise, David C. Wilson, Holm H. Uhlig, Carl A. Anderson
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/2613668b99c441b1b30bfa2765e3a533
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:2613668b99c441b1b30bfa2765e3a533
record_format	dspace
spelling	oai:doaj.org-article:2613668b99c441b1b30bfa2765e3a5332021-12-02T14:41:01ZSomatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease10.1038/s41467-019-14275-y2041-1723https://doaj.org/article/2613668b99c441b1b30bfa2765e3a5332020-02-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-14275-yhttps://doaj.org/toc/2041-1723Adult forms of inflammatory bowel disease (IBD) are of a polygenic nature, but paediatric and very early onset (VEO) IBD also occur as monogenic forms. Here, using whole exome sequencing, the authors explore both the monogenic and polygenic contribution to VEO-IBD and characterize a rare somatic mosaic VEO-IBD patient.Eva Gonçalves SerraTobias SchwerdLoukas MoutsianasAthena CavounidisLaura FachalSumeet PandeyJochen KammermeierNicholas M. CroftCarsten PosovszkyAstor RodriguesRichard K. RussellFarah BarakatMarcus K. H. AuthRobert HeuschkelMatthias ZilbauerKrzysztof FyderekChristian BraeggerSimon P. TravisJack SatsangiMiles ParkesNikhil ThaparHelen FerryJulie C. MatteKimberly C. GilmourAndrzej WedrychowiczPeter SullivanCarmel MooreJennifer SambrookWillem OuwehandDavid RobertsJohn DaneshToni A. BaeumlerTudor A. FulgaMohammad KaraminejadranjbarAhmed AhmedRachel WilsonJeffrey C. BarrettAbdul ElkadriAnne M. GriffithsCOLORS in IBD group investigatorsOxford IBD cohort study investigatorsINTERVAL StudySwiss IBD cohort investigatorsUK IBD Genetics ConsortiumNIDDK IBD Genetics ConsortiumScott B. SnapperNeil ShahAleixo M. MuiseDavid C. WilsonHolm H. UhligCarl A. AndersonNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Eva Gonçalves Serra Tobias Schwerd Loukas Moutsianas Athena Cavounidis Laura Fachal Sumeet Pandey Jochen Kammermeier Nicholas M. Croft Carsten Posovszky Astor Rodrigues Richard K. Russell Farah Barakat Marcus K. H. Auth Robert Heuschkel Matthias Zilbauer Krzysztof Fyderek Christian Braegger Simon P. Travis Jack Satsangi Miles Parkes Nikhil Thapar Helen Ferry Julie C. Matte Kimberly C. Gilmour Andrzej Wedrychowicz Peter Sullivan Carmel Moore Jennifer Sambrook Willem Ouwehand David Roberts John Danesh Toni A. Baeumler Tudor A. Fulga Mohammad Karaminejadranjbar Ahmed Ahmed Rachel Wilson Jeffrey C. Barrett Abdul Elkadri Anne M. Griffiths COLORS in IBD group investigators Oxford IBD cohort study investigators INTERVAL Study Swiss IBD cohort investigators UK IBD Genetics Consortium NIDDK IBD Genetics Consortium Scott B. Snapper Neil Shah Aleixo M. Muise David C. Wilson Holm H. Uhlig Carl A. Anderson Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease
description	Adult forms of inflammatory bowel disease (IBD) are of a polygenic nature, but paediatric and very early onset (VEO) IBD also occur as monogenic forms. Here, using whole exome sequencing, the authors explore both the monogenic and polygenic contribution to VEO-IBD and characterize a rare somatic mosaic VEO-IBD patient.
format	article
author	Eva Gonçalves Serra Tobias Schwerd Loukas Moutsianas Athena Cavounidis Laura Fachal Sumeet Pandey Jochen Kammermeier Nicholas M. Croft Carsten Posovszky Astor Rodrigues Richard K. Russell Farah Barakat Marcus K. H. Auth Robert Heuschkel Matthias Zilbauer Krzysztof Fyderek Christian Braegger Simon P. Travis Jack Satsangi Miles Parkes Nikhil Thapar Helen Ferry Julie C. Matte Kimberly C. Gilmour Andrzej Wedrychowicz Peter Sullivan Carmel Moore Jennifer Sambrook Willem Ouwehand David Roberts John Danesh Toni A. Baeumler Tudor A. Fulga Mohammad Karaminejadranjbar Ahmed Ahmed Rachel Wilson Jeffrey C. Barrett Abdul Elkadri Anne M. Griffiths COLORS in IBD group investigators Oxford IBD cohort study investigators INTERVAL Study Swiss IBD cohort investigators UK IBD Genetics Consortium NIDDK IBD Genetics Consortium Scott B. Snapper Neil Shah Aleixo M. Muise David C. Wilson Holm H. Uhlig Carl A. Anderson
author_facet	Eva Gonçalves Serra Tobias Schwerd Loukas Moutsianas Athena Cavounidis Laura Fachal Sumeet Pandey Jochen Kammermeier Nicholas M. Croft Carsten Posovszky Astor Rodrigues Richard K. Russell Farah Barakat Marcus K. H. Auth Robert Heuschkel Matthias Zilbauer Krzysztof Fyderek Christian Braegger Simon P. Travis Jack Satsangi Miles Parkes Nikhil Thapar Helen Ferry Julie C. Matte Kimberly C. Gilmour Andrzej Wedrychowicz Peter Sullivan Carmel Moore Jennifer Sambrook Willem Ouwehand David Roberts John Danesh Toni A. Baeumler Tudor A. Fulga Mohammad Karaminejadranjbar Ahmed Ahmed Rachel Wilson Jeffrey C. Barrett Abdul Elkadri Anne M. Griffiths COLORS in IBD group investigators Oxford IBD cohort study investigators INTERVAL Study Swiss IBD cohort investigators UK IBD Genetics Consortium NIDDK IBD Genetics Consortium Scott B. Snapper Neil Shah Aleixo M. Muise David C. Wilson Holm H. Uhlig Carl A. Anderson
author_sort	Eva Gonçalves Serra
title	Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease
title_short	Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease
title_full	Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease
title_fullStr	Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease
title_full_unstemmed	Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease
title_sort	somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/2613668b99c441b1b30bfa2765e3a533
work_keys_str_mv	AT evagoncalvesserra somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT tobiasschwerd somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT loukasmoutsianas somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT athenacavounidis somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT laurafachal somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT sumeetpandey somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT jochenkammermeier somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT nicholasmcroft somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT carstenposovszky somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT astorrodrigues somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT richardkrussell somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT farahbarakat somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT marcuskhauth somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT robertheuschkel somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT matthiaszilbauer somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT krzysztoffyderek somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT christianbraegger somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT simonptravis somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT jacksatsangi somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT milesparkes somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT nikhilthapar somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT helenferry somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT juliecmatte somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT kimberlycgilmour somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT andrzejwedrychowicz somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT petersullivan somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT carmelmoore somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT jennifersambrook somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT willemouwehand somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT davidroberts somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT johndanesh somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT toniabaeumler somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT tudorafulga somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT mohammadkaraminejadranjbar somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT ahmedahmed somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT rachelwilson somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT jeffreycbarrett somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT abdulelkadri somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT annemgriffiths somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT colorsinibdgroupinvestigators somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT oxfordibdcohortstudyinvestigators somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT intervalstudy somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT swissibdcohortinvestigators somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT ukibdgeneticsconsortium somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT niddkibdgeneticsconsortium somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT scottbsnapper somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT neilshah somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT aleixommuise somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT davidcwilson somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT holmhuhlig somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease AT carlaanderson somaticmosaicismandcommongeneticvariationcontributetotheriskofveryearlyonsetinflammatoryboweldisease
_version_	1718390041164644352

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Ejemplares similares