Altmetric

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

Title: Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis
Authors: Paternoster, L
Standl, M
Chen, CM
Ramasamy, A
Bonnelykke, K
Duijts, L
Ferreira, MA
Alves, AC
Thyssen, JP
Albrecht, E
Baurecht, H
Feenstra, B
Sleiman, PM
Hysi, P
Warrington, NM
Curjuric, I
Myhre, R
Curtin, JA
Groen-Blokhuis, MM
Kerkhof, M
Saaf, A
Franke, A
Ellinghaus, D
Folster-Holst, R
Dermitzakis, E
Montgomery, SB
Prokisch, H
Heim, K
Hartikainen, AL
Pouta, A
Pekkanen, J
Blakemore, AI
Buxton, JL
Kaakinen, M
Duffy, DL
Madden, PA
Heath, AC
Montgomery, GW
Thompson, PJ
Matheson, MC
Le Souef, P
St Pourcain, B
Smith, GD
Henderson, J
Kemp, JP
Timpson, NJ
Deloukas, P
Ring, SM
Wichmann, HE
Muller-Nurasyid, M
Novak, N
Klopp, N
Rodriguez, E
McArdle, W
Linneberg, A
Menne, T
Nohr, EA
Hofman, A
Uitterlinden, AG
Van Duijn, CM
Rivadeneira, F
De Jongste, JC
Van der Valk, RJ
Wjst, M
Jogi, R
Geller, F
Boyd, HA
Murray, JC
Kim, C
Mentch, F
March, M
Mangino, M
Spector, TD
Bataille, V
Pennell, CE
Holt, PG
Sly, P
Tiesler, CM
Thiering, E
Illig, T
Imboden, M
Nystad, W
Simpson, A
Hottenga, JJ
Postma, D
Koppelman, GH
Smit, HA
Soderhall, C
Chawes, B
Kreiner-Moller, E
Bisgaard, H
Melen, E
Boomsma, DI
Custovic, A
Jacobsson, B
Probst-Hensch, NM
Palmer, LJ
Glass, D
Hakonarson, H
Melbye, M
Item Type: Journal Article
Issue Date: 25-Dec-2011
Date of Acceptance: 1-Nov-2011
URI: http://hdl.handle.net/10044/1/28506
DOI: https://dx.doi.org/10.1038/ng.1017
ISSN: 1546-1718
Publisher: Nature Publishing Group
Start Page: 187
End Page: 192
Journal / Book Title: Nature Genetics
Volume: 44
Copyright Statement: © 2011, Rights Managed by Nature Publishing Group
Sponsor/Funder: Medical Research Council (MRC)
Funder's Grant Number: G0801056B
Keywords: Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
GENETICS & HEREDITY
CELLULAR MOTILITY
EXPRESSION
PSORIASIS
DISEASE
DIFFERENTIATION
VARIANTS
ASTHMA
SPERMATOGENESIS
MECHANISMS
FILAGGRIN
Cell Differentiation
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 20
Chromosomes, Human, Pair 5
Cytokines
DNA-Binding Proteins
Dermatitis, Atopic
Epidermis
Female
Genetic Loci
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Intermediate Filament Proteins
Kinesin
Male
Polymorphism, Single Nucleotide
Risk
Transcription Factors
Australian Asthma Genetics Consortium (AAGC)
Genetics of Overweight Young Adults (GOYA) Consortium
EArly Genetics & Lifecourse Epidemiology (EAGLE) Consortium
Cell Differentiation/genetics Chromosomes, Human, Pair 11/genetics Chromosomes, Human, Pair 20/genetics Chromosomes, Human, Pair 5 Cytokines/genetics DNA-Binding Proteins/genetics Dermatitis, Atopic/*genetics/immunology Epidermis/immunology Female *Genetic Loci Genetic Predisposition to Disease *Genome-Wide Association Study Humans Intermediate Filament Proteins/genetics Kinesin/genetics Male Polymorphism, Single Nucleotide Risk Transcription Factors/genetics
Developmental Biology
11 Medical And Health Sciences
06 Biological Sciences
Notes: Paternoster, Lavinia Standl, Marie Chen, Chih-Mei Ramasamy, Adaikalavan Bonnelykke, Klaus Duijts, Liesbeth Ferreira, Manuel A Alves, Alexessander Couto Thyssen, Jacob P Albrecht, Eva Baurecht, Hansjorg Feenstra, Bjarke Sleiman, Patrick M A Hysi, Pirro Warrington, Nicole M Curjuric, Ivan Myhre, Ronny Curtin, John A Groen-Blokhuis, Maria M Kerkhof, Marjan Saaf, Annika Franke, Andre Ellinghaus, David Folster-Holst, Regina Dermitzakis, Emmanouil Montgomery, Stephen B Prokisch, Holger Heim, Katharina Hartikainen, Anna-Liisa Pouta, Anneli Pekkanen, Juha Blakemore, Alexandra I F Buxton, Jessica L Kaakinen, Marika Duffy, David L Madden, Pamela A Heath, Andrew C Montgomery, Grant W Thompson, Philip J Matheson, Melanie C Le Souef, Peter Australian Asthma Genetics Consortium (AAGC) St Pourcain, Beate Smith, George Davey Henderson, John Kemp, John P Timpson, Nicholas J Deloukas, Panos Ring, Susan M Wichmann, H-Erich Muller-Nurasyid, Martina Novak, Natalija Klopp, Norman Rodriguez, Elke McArdle, Wendy Linneberg, Allan Menne, Torkil Nohr, Ellen A Hofman, Albert Uitterlinden, Andre G van Duijn, Cornelia M Rivadeneira, Fernando de Jongste, Johan C van der Valk, Ralf J P Wjst, Matthias Jogi, Rain Geller, Frank Boyd, Heather A Murray, Jeffrey C Kim, Cecilia Mentch, Frank March, Michael Mangino, Massimo Spector, Tim D Bataille, Veronique Pennell, Craig E Holt, Patrick G Sly, Peter Tiesler, Carla M T Thiering, Elisabeth Illig, Thomas Imboden, Medea Nystad, Wenche Simpson, Angela Hottenga, Jouke-Jan Postma, Dirkje Koppelman, Gerard H Smit, Henriette A Soderhall, Cilla Chawes, Bo Kreiner-Moller, Eskil Bisgaard, Hans Melen, Erik Boomsma, Dorret I Custovic, Adnan Jacobsson, Bo Probst-Hensch, Nicole M Palmer, Lyle J Glass, Daniel Hakonarson, Hakon Melbye, Mads Jarvis, Deborah L Jaddoe, Vincent W V Gieger, Christian Genetics of Overweight Young Adults (GOYA) Consortium Strachan, David P Martin, Nicholas G Jarvelin, Marjo-Riitta Heinrich, Joachim Evans, David M Weidinger, Stephan EArly Genetics & Lifecourse Epidemiology (EAGLE) Consortium 068545/Wellcome Trust/United Kingdom 076467/Wellcome Trust/United Kingdom 084762/Wellcome Trust/United Kingdom 092731/Wellcome Trust/United Kingdom G0601361/Medical Research Council/United Kingdom G0601361(80219)/Medical Research Council/United Kingdom G0800582/Medical Research Council/United Kingdom G0800582(86758)/Medical Research Council/United Kingdom G9815508/Medical Research Council/United Kingdom G9815508(74882)/Medical Research Council/United Kingdom K05 AA017688/AA/NIAAA NIH HHS/United States R01 DA012854-10/DA/NIDA NIH HHS/United States Meta-Analysis United States Nature genetics Nat Genet. 2011 Dec 25;44(2):187-92. doi: 10.1038/ng.1017. Atopic dermatitis (AD) is a commonly occurring chronic skin disease with high heritability. Apart from filaggrin (FLG), the genes influencing atopic dermatitis are largely unknown. We conducted a genome-wide association meta-analysis of 5,606 affected individuals and 20,565 controls from 16 population-based cohorts and then examined the ten most strongly associated new susceptibility loci in an additional 5,419 affected individuals and 19,833 controls from 14 studies. Three SNPs reached genome-wide significance in the discovery and replication cohorts combined, including rs479844 upstream of OVOL1 (odds ratio (OR) = 0.88, P = 1.1 x 10(-13)) and rs2164983 near ACTL9 (OR = 1.16, P = 7.1 x 10(-9)), both of which are near genes that have been implicated in epidermal proliferation and differentiation, as well as rs2897442 in KIF3A within the cytokine cluster at 5q31.1 (OR = 1.11, P = 3.8 x 10(-8)). We also replicated association with the FLG locus and with two recently identified association signals at 11q13.5 (rs7927894; P = 0.008) and 20q13.33 (rs6010620; P = 0.002). Our results underline the importance of both epidermal barrier function and immune dysregulation in atopic dermatitis pathogenesis.
Publication Status: Published
Appears in Collections:Infectious Disease Epidemiology
National Heart and Lung Institute
Department of Medicine
Epidemiology, Public Health and Primary Care



Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Creative Commons