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

Paternoster, Lavinia, Standl, Marie, Chen, Chi-Mei, Ramasamy, Adaikalavan, Bonnelykke, Klaus, Duijts, Liesbeth, Ferreira, Manuel A., Alves, Alexessander C., Thyssen, Jacob P., Albrecht, Eva, Baurecht, Hansjorg, Feenstra, Bjarke, Sleiman, Patrick M. A., Hysi, Piro, 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-Lisa, 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, St Pourcain, Beate, Smith, George D., 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, Alln, Menne, Torkil, Nohr, Ellen A., Hofman, Albert, Uitterlinden, Andre G., van Duijin, 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, Strachan, David P., Martin, Nicholas G., Jarvelin, Marjo-Riitta, Heinrich, Joachim, Evans, David M., Weidinger, Stephan, Australian Asthma Genetics Consort, Genetics Overweight Young Adults (GOYA) Consortium and EArly Genetics Lifecourse Epidemiology (EAGLE) Consortium (2012) Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis. Nature Genetics, 44 2: 187-192. doi:10.1038/ng.1017

Author Paternoster, Lavinia
Standl, Marie
Chen, Chi-Mei
Ramasamy, Adaikalavan
Bonnelykke, Klaus
Duijts, Liesbeth
Ferreira, Manuel A.
Alves, Alexessander C.
Thyssen, Jacob P.
Albrecht, Eva
Baurecht, Hansjorg
Feenstra, Bjarke
Sleiman, Patrick M. A.
Hysi, Piro
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-Lisa
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
St Pourcain, Beate
Smith, George D.
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, Alln
Menne, Torkil
Nohr, Ellen A.
Hofman, Albert
Uitterlinden, Andre G.
van Duijin, 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
Strachan, David P.
Martin, Nicholas G.
Jarvelin, Marjo-Riitta
Heinrich, Joachim
Evans, David M.
Weidinger, Stephan
Australian Asthma Genetics Consort
Genetics Overweight Young Adults (GOYA) Consortium
EArly Genetics Lifecourse Epidemiology (EAGLE) Consortium
Total Author Count Override 144
Title Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
Publication date 2012-02
Sub-type Article (original research)
DOI 10.1038/ng.1017
Open Access Status
Volume 44
Issue 2
Start page 187
End page 192
Total pages 6
Place of publication New York, NY, United States
Publisher Nature Publishing Group
Collection year 2013
Language eng
Formatted abstract
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 × 10−13) and rs2164983 near ACTL9 (OR = 1.16, P = 7.1 × 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 × 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.
Keyword Cellular Motility
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Faculty of Health and Behavioural Sciences -- Publications
Official 2013 Collection
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Citation counts: TR Web of Science Citation Count  Cited 94 times in Thomson Reuters Web of Science Article | Citations
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