Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4

Genetic studies of eczema to date have mostly explored common genetic variation. Here, the authors perform a large meta-analysis for common and rare variants and discover 8 loci associated with eczema. Over 20% of the heritability of the condition is attributable to rare variants.

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Autores principales:	Sarah Grosche, Ingo Marenholz, Jorge Esparza-Gordillo, Aleix Arnau-Soler, Erola Pairo-Castineira, Franz Rüschendorf, Tarunveer S. Ahluwalia, Catarina Almqvist, Andreas Arnold, Australian Asthma Genetics Consortium (AAGC), Hansjörg Baurecht, Hans Bisgaard, Klaus Bønnelykke, Sara J. Brown, Mariona Bustamante, John A. Curtin, Adnan Custovic, Shyamali C. Dharmage, Ana Esplugues, Mario Falchi, Dietmar Fernandez-Orth, Manuel A. R. Ferreira, Andre Franke, Sascha Gerdes, Christian Gieger, Hakon Hakonarson, Patrick G. Holt, Georg Homuth, Norbert Hubner, Pirro G. Hysi, Marjo-Riitta Jarvelin, Robert Karlsson, Gerard H. Koppelman, Susanne Lau, Manuel Lutz, Patrik K. E. Magnusson, Guy B. Marks, Martina Müller-Nurasyid, Markus M. Nöthen, Lavinia Paternoster, Craig E. Pennell, Annette Peters, Konrad Rawlik, Colin F. Robertson, Elke Rodriguez, Sylvain Sebert, Angela Simpson, Patrick M. A. Sleiman, Marie Standl, Dora Stölzl, Konstantin Strauch, Agnieszka Szwajda, Albert Tenesa, Philip J. Thompson, Vilhelmina Ullemar, Alessia Visconti, Judith M. Vonk, Carol A. Wang, Stephan Weidinger, Matthias Wielscher, Catherine L. Worth, Chen-Jian Xu, Young-Ae Lee
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/d54f293b9f924ec89242fe90b53feed8
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spelling	oai:doaj.org-article:d54f293b9f924ec89242fe90b53feed82021-11-21T12:35:08ZRare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A410.1038/s41467-021-26783-x2041-1723https://doaj.org/article/d54f293b9f924ec89242fe90b53feed82021-11-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-26783-xhttps://doaj.org/toc/2041-1723Genetic studies of eczema to date have mostly explored common genetic variation. Here, the authors perform a large meta-analysis for common and rare variants and discover 8 loci associated with eczema. Over 20% of the heritability of the condition is attributable to rare variants.Sarah GroscheIngo MarenholzJorge Esparza-GordilloAleix Arnau-SolerErola Pairo-CastineiraFranz RüschendorfTarunveer S. AhluwaliaCatarina AlmqvistAndreas ArnoldAustralian Asthma Genetics Consortium (AAGC)Hansjörg BaurechtHans BisgaardKlaus BønnelykkeSara J. BrownMariona BustamanteJohn A. CurtinAdnan CustovicShyamali C. DharmageAna EspluguesMario FalchiDietmar Fernandez-OrthManuel A. R. FerreiraAndre FrankeSascha GerdesChristian GiegerHakon HakonarsonPatrick G. HoltGeorg HomuthNorbert HubnerPirro G. HysiMarjo-Riitta JarvelinRobert KarlssonGerard H. KoppelmanSusanne LauManuel LutzPatrik K. E. MagnussonGuy B. MarksMartina Müller-NurasyidMarkus M. NöthenLavinia PaternosterCraig E. PennellAnnette PetersKonrad RawlikColin F. RobertsonElke RodriguezSylvain SebertAngela SimpsonPatrick M. A. SleimanMarie StandlDora StölzlKonstantin StrauchAgnieszka SzwajdaAlbert TenesaPhilip J. ThompsonVilhelmina UllemarAlessia ViscontiJudith M. VonkCarol A. WangStephan WeidingerMatthias WielscherCatherine L. WorthChen-Jian XuYoung-Ae LeeNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Sarah Grosche Ingo Marenholz Jorge Esparza-Gordillo Aleix Arnau-Soler Erola Pairo-Castineira Franz Rüschendorf Tarunveer S. Ahluwalia Catarina Almqvist Andreas Arnold Australian Asthma Genetics Consortium (AAGC) Hansjörg Baurecht Hans Bisgaard Klaus Bønnelykke Sara J. Brown Mariona Bustamante John A. Curtin Adnan Custovic Shyamali C. Dharmage Ana Esplugues Mario Falchi Dietmar Fernandez-Orth Manuel A. R. Ferreira Andre Franke Sascha Gerdes Christian Gieger Hakon Hakonarson Patrick G. Holt Georg Homuth Norbert Hubner Pirro G. Hysi Marjo-Riitta Jarvelin Robert Karlsson Gerard H. Koppelman Susanne Lau Manuel Lutz Patrik K. E. Magnusson Guy B. Marks Martina Müller-Nurasyid Markus M. Nöthen Lavinia Paternoster Craig E. Pennell Annette Peters Konrad Rawlik Colin F. Robertson Elke Rodriguez Sylvain Sebert Angela Simpson Patrick M. A. Sleiman Marie Standl Dora Stölzl Konstantin Strauch Agnieszka Szwajda Albert Tenesa Philip J. Thompson Vilhelmina Ullemar Alessia Visconti Judith M. Vonk Carol A. Wang Stephan Weidinger Matthias Wielscher Catherine L. Worth Chen-Jian Xu Young-Ae Lee Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4
description	Genetic studies of eczema to date have mostly explored common genetic variation. Here, the authors perform a large meta-analysis for common and rare variants and discover 8 loci associated with eczema. Over 20% of the heritability of the condition is attributable to rare variants.
format	article
author	Sarah Grosche Ingo Marenholz Jorge Esparza-Gordillo Aleix Arnau-Soler Erola Pairo-Castineira Franz Rüschendorf Tarunveer S. Ahluwalia Catarina Almqvist Andreas Arnold Australian Asthma Genetics Consortium (AAGC) Hansjörg Baurecht Hans Bisgaard Klaus Bønnelykke Sara J. Brown Mariona Bustamante John A. Curtin Adnan Custovic Shyamali C. Dharmage Ana Esplugues Mario Falchi Dietmar Fernandez-Orth Manuel A. R. Ferreira Andre Franke Sascha Gerdes Christian Gieger Hakon Hakonarson Patrick G. Holt Georg Homuth Norbert Hubner Pirro G. Hysi Marjo-Riitta Jarvelin Robert Karlsson Gerard H. Koppelman Susanne Lau Manuel Lutz Patrik K. E. Magnusson Guy B. Marks Martina Müller-Nurasyid Markus M. Nöthen Lavinia Paternoster Craig E. Pennell Annette Peters Konrad Rawlik Colin F. Robertson Elke Rodriguez Sylvain Sebert Angela Simpson Patrick M. A. Sleiman Marie Standl Dora Stölzl Konstantin Strauch Agnieszka Szwajda Albert Tenesa Philip J. Thompson Vilhelmina Ullemar Alessia Visconti Judith M. Vonk Carol A. Wang Stephan Weidinger Matthias Wielscher Catherine L. Worth Chen-Jian Xu Young-Ae Lee
author_facet	Sarah Grosche Ingo Marenholz Jorge Esparza-Gordillo Aleix Arnau-Soler Erola Pairo-Castineira Franz Rüschendorf Tarunveer S. Ahluwalia Catarina Almqvist Andreas Arnold Australian Asthma Genetics Consortium (AAGC) Hansjörg Baurecht Hans Bisgaard Klaus Bønnelykke Sara J. Brown Mariona Bustamante John A. Curtin Adnan Custovic Shyamali C. Dharmage Ana Esplugues Mario Falchi Dietmar Fernandez-Orth Manuel A. R. Ferreira Andre Franke Sascha Gerdes Christian Gieger Hakon Hakonarson Patrick G. Holt Georg Homuth Norbert Hubner Pirro G. Hysi Marjo-Riitta Jarvelin Robert Karlsson Gerard H. Koppelman Susanne Lau Manuel Lutz Patrik K. E. Magnusson Guy B. Marks Martina Müller-Nurasyid Markus M. Nöthen Lavinia Paternoster Craig E. Pennell Annette Peters Konrad Rawlik Colin F. Robertson Elke Rodriguez Sylvain Sebert Angela Simpson Patrick M. A. Sleiman Marie Standl Dora Stölzl Konstantin Strauch Agnieszka Szwajda Albert Tenesa Philip J. Thompson Vilhelmina Ullemar Alessia Visconti Judith M. Vonk Carol A. Wang Stephan Weidinger Matthias Wielscher Catherine L. Worth Chen-Jian Xu Young-Ae Lee
author_sort	Sarah Grosche
title	Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4
title_short	Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4
title_full	Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4
title_fullStr	Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4
title_full_unstemmed	Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4
title_sort	rare variant analysis in eczema identifies exonic variants in dusp1, notch4 and slc9a4
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/d54f293b9f924ec89242fe90b53feed8
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Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4

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