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

Wjist, M.; Paternoster, Lavinia; Standl, Marie; Chen, Chih-Mei; Vwv, Jaddoe; Ramasamy, Adaikalavan; Bonnelykke, Klaus; Cm, Chen; Duijts, Liesbeth; Bønnelykke, Klaus; Bøpnnelykke, K.; Ma, Ferrera; Ferreira, Manuel A.; Thyssen, Jacob P.; Jp, Thyssen; Pma, Sleiman; Feenstra, Bjarke; Nm, Warrington; Sleiman, Patrick M. A.; Hysi, Pirro; Ja, Curtin; Warrington, Nicole M.; Mm, Groen Blokhuis; Curjuric, Ivan; Myhre, Ronny; Sb, Montgomery; Curtin, John-A.; Saaf, Annika; Groen-Blokhuis, Maria M.; Kerkhof, Marjan; Folster-Holst, Regina; Pekkane, J.; Franke, Andre; Sääf, Annika; Ellinghaus, David; Jl, Buxton; Fölster-Holst, Regina; Dermitzakis, Emmanouil; Montgomery, Stephen B.; Dl, Duffy; Prokisch, Holger; Heim, Katharina; Pa, Madden; Hartikainen, Anna-Liisa; Pouta, Anneli; Gw, Montgomery; Pekkanen, Juha; Blakemore, Alexandra If F.; Le, Souëf P.; Buxton, Jessica L.; Kaakinen, Marika; Pj, Thompson; Duffy, David L.; Pourcain, Beate St; Madden, Pamela A.; Heath, Andrew C.; Mc, Matheson; Montgomery, Grant W.; Consortium, Australian Asthma Genetics; Thompson, Philip J.; Erich Wichmann, H.; Matheson, Melanie C.; Gd, Smith; Smith, George Davey; Henderson, John; Muller-Nurasyid, Martina; Kemp, John P.; St Pourcain, Beate; van Duijn, Cornélia M.; Wichmann, H.-Erich; Jp, Kemp; Timpson, Nicholas J.; Deloukas, Panos; Müller-Nurasyid, Martina; Nj, Timpson; Ring, Susan M.; Novak, Natalija; Sm, Ring; Klopp, Norman B.; Rodriguez, Elke; He, Wichmann; de Jongste, Johan C.; Linneberg, Allan; McArdle, Wendy; van der Valk, Ralf Jp P.; Menne, Torkil; Mýller Nurasyd, M.; Souëf, Peter Le; Nohr, Ellen A.; Alves, Alexessander Couto; Hofman, Albert; Ea, Nohr; Van Duijn, C. M.; Albrecht, Eva; Uitterlinden, André-G.; De Jongste, J. C.; Cm, van Duijn; Baurecht, Hansjörg; Rivadeneira, Fernando; Van Der Valk, R. J. P.; Wjst, Matthias; Jõgi, R.; Jc, de Jongste; Jogi, Rain; Geller, Frank; Rjp, van der Valk; Boyd, Heather A.; Murray, Jeffrey C.; Ha, Boyd; Kim, Cecilia; Jc, Murray; Mentch, Frank; Td, Spector; March, Michael; Ce, Pennel; Mangino, Massimo; Spector, Tim D.; Pg, Holt; Pennell, Craig E.; Jj, Hottenga; Holt, Patrick G.; Sly, Peter; Weidinger, Stephan; Tiesler, Carla Mt T.; Gh, Koppelman; Thiering, Elisabeth; Illig, Thomas; Ha, Smit; Imboden, Medea; Nystad, Wenche; Nm, Probst Hensch; Simpson, Angela; Hottenga, Jouke-Jan; Soderhall, Cilla; Lj, Palmer; Postma, Dirkje; Koppelman, Gerard H.; Dl, Jarvis; Smit, Henriette A.; Consortium, Genetics Of Overweight Young Adults; Söderhäll, Cilla; Dp, Strachan; Chawes, Bo; Kreiner-Møller, Eskil; Ng, Martin; Bisgaard, Hans; Mr, Jarveline; Melén, Erik; Boomsma, Dorret I.; Bataille, Veronique; Custovic, Adnan; Dm, Evans; Jacobsson, Bo; Probst-Hensch, Nicole M.; Palmer, Lyle J.; Glass, Daniel; Consortium, Genetics Overweight Young Adults (GOYA); Hakonarson, Hakon; Consort, Australian Asthma Genetics; Melbye, Mads; Jarvis, Deborah L.; Jaddoe, Vincent Wv V.; Consortium, EArly Genetics Lifecourse Epidemiology (EAGLE); Gieger, Christian; Genetics Overweight Young Adults, G.; Strachan, David P.; Consortium, Genetics of Overweight Young Adults (GOYA); Epidemio, EArly Genetics Lifecourse; Martin, Nicholas G.; Others,; Jarvelin, Marjo-Riitta; Ac, Alves; Heinrich, Joachim; Al, Hartikainen; Evans, David M.; Aif, Blakemmore; Ac, Heath; B\onnelykke, Klaus; Ag, Uitterlinden; 2. Paternoster L., Standl M Chen CM Ramasamy A Bønnelykke 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 Sääf A Franke A Ellinghaus D Fölster-Holst R Dermitz; (Aagc), Australian Asthma Genetics Consortium

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Lavinia Paternoster
Wjist et al., 2011

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Nature Research, Nature Genetics, 2(44), p. 187-192

DOI: 10.1038/ng.1017

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@article{Wjist2011,
  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.},
  author = {Wjist, M. and Paternoster, Lavinia and Standl, Marie and Chen, Chih-Mei and Vwv, Jaddoe and Ramasamy, Adaikalavan and Bonnelykke, Klaus and Cm, Chen and Duijts, Liesbeth and Bønnelykke, Klaus and Bøpnnelykke, K. and Ma, Ferrera and Ferreira, Manuel A. and Thyssen, Jacob P. and Jp, Thyssen and Pma, Sleiman and Feenstra, Bjarke and Nm, Warrington and Sleiman, Patrick M. A. and Hysi, Pirro and Ja, Curtin and Warrington, Nicole M. and Mm, Groen Blokhuis and Curjuric, Ivan and Myhre, Ronny and Sb, Montgomery and Curtin, John-A. and Saaf, Annika and Groen-Blokhuis, Maria M. and Kerkhof, Marjan and Folster-Holst, Regina and Pekkane, J. and Franke, Andre and Sääf, Annika and Ellinghaus, David and Jl, Buxton and Fölster-Holst, Regina and Dermitzakis, Emmanouil and Montgomery, Stephen B. and Dl, Duffy and Prokisch, Holger and Heim, Katharina and Pa, Madden and Hartikainen, Anna-Liisa and Pouta, Anneli and Gw, Montgomery and Pekkanen, Juha and Blakemore, Alexandra If F. and Le, Souëf P. and Buxton, Jessica L. and Kaakinen, Marika and Pj, Thompson and Duffy, David L. and Pourcain, Beate St and Madden, Pamela A. and Heath, Andrew C. and Mc, Matheson and Montgomery, Grant W. and Consortium, Australian Asthma Genetics and Thompson, Philip J. and Erich Wichmann, H. and Matheson, Melanie C. and Gd, Smith and Smith, George Davey and Henderson, John and Muller-Nurasyid, Martina and Kemp, John P. and St Pourcain, Beate and van Duijn, Cornélia M. and Wichmann, H.-Erich and Jp, Kemp and Timpson, Nicholas J. and Deloukas, Panos and Müller-Nurasyid, Martina and Nj, Timpson and Ring, Susan M. and Novak, Natalija and Sm, Ring and Klopp, Norman B. and Rodriguez, Elke and He, Wichmann and de Jongste, Johan C. and Linneberg, Allan and McArdle, Wendy and van der Valk, Ralf Jp P. and Menne, Torkil and Mýller Nurasyd, M. and Souëf, Peter Le and Nohr, Ellen A. and Alves, Alexessander Couto and Hofman, Albert and Ea, Nohr and Van Duijn, C. M. and Albrecht, Eva and Uitterlinden, André-G. and De Jongste, J. C. and Cm, van Duijn and Baurecht, Hansjörg and Rivadeneira, Fernando and Van Der Valk, R. J. P. and Wjst, Matthias and Jõgi, R. and Jc, de Jongste and Jogi, Rain and Geller, Frank and Rjp, van der Valk and Boyd, Heather A. and Murray, Jeffrey C. and Ha, Boyd and Kim, Cecilia and Jc, Murray and Mentch, Frank and Td, Spector and March, Michael and Ce, Pennel and Mangino, Massimo and Spector, Tim D. and Pg, Holt and Pennell, Craig E. and Jj, Hottenga and Holt, Patrick G. and Sly, Peter and Weidinger, Stephan and Tiesler, Carla Mt T. and Gh, Koppelman and Thiering, Elisabeth and Illig, Thomas and Ha, Smit and Imboden, Medea and Nystad, Wenche and Nm, Probst Hensch and Simpson, Angela and Hottenga, Jouke-Jan and Soderhall, Cilla and Lj, Palmer and Postma, Dirkje and Koppelman, Gerard H. and Dl, Jarvis and Smit, Henriette A. and Consortium, Genetics Of Overweight Young Adults and Söderhäll, Cilla and Dp, Strachan and Chawes, Bo and Kreiner-Møller, Eskil and Ng, Martin and Bisgaard, Hans and Mr, Jarveline and Melén, Erik and Boomsma, Dorret I. and Bataille, Veronique and Custovic, Adnan and Dm, Evans and Jacobsson, Bo and Probst-Hensch, Nicole M. and Palmer, Lyle J. and Glass, Daniel and Consortium, Genetics Overweight Young Adults (GOYA) and Hakonarson, Hakon and Consort, Australian Asthma Genetics and Melbye, Mads and Jarvis, Deborah L. and Jaddoe, Vincent Wv V. and Consortium, EArly Genetics Lifecourse Epidemiology (EAGLE) and Gieger, Christian and Genetics Overweight Young Adults, G. and Strachan, David P. and Consortium, Genetics of Overweight Young Adults (GOYA) and Epidemio, EArly Genetics Lifecourse and Martin, Nicholas G. and Others,  and Jarvelin, Marjo-Riitta and Ac, Alves and Heinrich, Joachim and Al, Hartikainen and Evans, David M. and Aif, Blakemmore and Ac, Heath and B\onnelykke, Klaus and Ag, Uitterlinden and 2. Paternoster L., Standl M Chen CM Ramasamy A Bønnelykke 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 Sääf A Franke A Ellinghaus D Fölster-Holst R Dermitz and (Aagc), Australian Asthma Genetics Consortium},
  doi = {10.1038/ng.1017},
  journal = {Nature Genetics},
  month = {dec},
  pages = {187-192},
  title = {Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.},
  url = {http://www.nature.com/articles/ng.1017.pdf},
  volume = {44},
  year = {2011}
}

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

Journal article published in 2011 by M. Wjist, Lavinia Paternoster

, Marie Standl, Chih-Mei Chen, Jaddoe Vwv, Adaikalavan Ramasamy, Klaus Bonnelykke, Chen Cm, Liesbeth Duijts, Klaus Bønnelykke, K. Bøpnnelykke, Ferrera Ma, Manuel A. Ferreira, Jacob P. Thyssen, Thyssen Jp, Sleiman Pma, Bjarke Feenstra, Warrington Nm, Patrick M. A. Sleiman, Pirro Hysi, Curtin Ja, Nicole M. Warrington, Groen Blokhuis Mm, Ivan Curjuric, Ronny Myhre, Montgomery Sb, John-A. Curtin, Annika Saaf, Maria M. Groen-Blokhuis, Marjan Kerkhof, Regina Folster-Holst, J. Pekkane, Andre Franke, Annika Sääf, David Ellinghaus, Buxton Jl, Regina Fölster-Holst, Emmanouil Dermitzakis, Stephen B. Montgomery, Duffy Dl, Holger Prokisch, Katharina Heim, Madden Pa, Anna-Liisa Hartikainen, Anneli Pouta, Montgomery Gw, Juha Pekkanen, Alexandra If F. Blakemore, Souëf P. Le, Jessica L. Buxton, Marika Kaakinen

, Thompson Pj, David L. Duffy, Beate St Pourcain, Pamela A. Madden, Andrew C. Heath, Matheson Mc, Grant W. Montgomery, Australian Asthma Genetics Consortium, Philip J. Thompson, H. Erich Wichmann, Melanie C. Matheson

, Smith Gd, George Davey Smith, John Henderson, Martina Muller-Nurasyid, John P. Kemp, Beate St Pourcain, Cornélia M. van Duijn, H.-Erich Wichmann, Kemp Jp, Nicholas J. Timpson

, Panos Deloukas

, Martina Müller-Nurasyid, Timpson Nj, Susan M. Ring, Natalija Novak, Ring Sm, Norman B. Klopp, Elke Rodriguez, Wichmann He, Johan C. de Jongste, Allan Linneberg, Wendy McArdle, Ralf Jp P. van der Valk, Torkil Menne, M. Mýller Nurasyd, Peter Le Souëf, Ellen A. Nohr, Alexessander Couto Alves, Albert Hofman, Nohr Ea, C. M. Van Duijn, Eva Albrecht, André-G. Uitterlinden, J. C. De Jongste, van Duijn Cm, Hansjörg Baurecht

, Fernando Rivadeneira, R. J. P. Van Der Valk, Matthias Wjst, R. Jõgi, de Jongste Jc, Rain Jogi, Frank Geller, van der Valk Rjp, Heather A. Boyd, Jeffrey C. Murray, Boyd Ha, Cecilia Kim, Murray Jc, Frank Mentch, Spector Td, Michael March, Pennel Ce, Massimo Mangino, Tim D. Spector, Holt Pg, Craig E. Pennell, Hottenga Jj, Patrick G. Holt, Peter Sly, Stephan Weidinger

, Carla Mt T. Tiesler, Koppelman Gh, Elisabeth Thiering, Thomas Illig, Smit Ha, Medea Imboden, Wenche Nystad, Probst Hensch Nm, Angela Simpson, Jouke-Jan Hottenga, Cilla Soderhall, Palmer Lj, Dirkje Postma, Gerard H. Koppelman

, Jarvis Dl, Henriette A. Smit, Genetics Of Overweight Young Adults Consortium, Cilla Söderhäll, Strachan Dp, Bo Chawes, Eskil Kreiner-Møller

, Martin Ng, Hans Bisgaard, Jarveline Mr, Erik Melén, Dorret I. Boomsma, Veronique Bataille, Adnan Custovic, Evans Dm, Bo Jacobsson, Nicole M. Probst-Hensch, Lyle J. Palmer, Daniel Glass, Genetics Overweight Young Adults (GOYA) Consortium, Hakon Hakonarson, Australian Asthma Genetics Consort, Mads Melbye, Deborah L. Jarvis, Vincent Wv V. Jaddoe, EArly Genetics Lifecourse Epidemiology (EAGLE) Consortium, Christian Gieger

, G. Genetics Overweight Young Adults, David P. Strachan, Genetics of Overweight Young Adults (GOYA) Consortium, EArly Genetics Lifecourse Epidemio, Nicholas G. Martin

, Others, Marjo-Riitta Jarvelin, Alves Ac, Joachim Heinrich, Hartikainen Al, David M. Evans, Blakemmore Aif, Heath Ac, Klaus B\onnelykke, Uitterlinden Ag, Standl M Chen CM Ramasamy A Bønnelykke 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 Sääf A Franke A Ellinghaus D Fölster-Holst R Dermitz 2. Paternoster L., Australian Asthma Genetics Consortium (Aagc)

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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.

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

Abstract