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META-ANALYSIS OF GENOME-WIDE ASSOCIATION STUDIES IDENTIFIES THREE NEW RISK LOCI FOR ATOPIC DERMATITIS
Atopic dermatitis (AD) is a common chronic skin disease with high heritability. Apart from filaggrin (FLG), the genes influencing AD are largely unknown. We conducted a genome-wide association meta-analysis of 5,606 cases and 20,565 controls from 16 population-based cohorts and followed up the ten m...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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2011
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272375/ https://www.ncbi.nlm.nih.gov/pubmed/22197932 http://dx.doi.org/10.1038/ng.1017 |
| _version_ | 1782222795829149696 |
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| author | Paternoster, Lavinia Standl, Marie Chen, Chih-Mei Ramasamy, Adaikalavan Bønnelykke, Klaus Duijts, Liesbeth Ferreira, Manuel A Alves, Alexessander Couto Thyssen, Jacob P Albrecht, Eva Baurecht, Hansjörg Feenstra, Bjarke Sleiman, Patrick MA Hysi, Pirro Warrington, Nicole M Curjuric, Ivan Myhre, Ronny Curtin, John A Groen-Blokhuis, Maria M Kerkhof, Marjan Sääf, Annika Franke, Andre Ellinghaus, David Fölster-Holst, Regina Dermitzakis, Emmanouil Montgomery, Stephen B Prokisch, Holger Heim, Katharina Hartikainen, Anna-Liisa Pouta, Anneli Pekkanen, Juha Blakemore, Alexandra IF Buxton, Jessica L Kaakinen, Marika Duffy, David L Madden, Pamela A Heath, Andrew C Montgomery, Grant W Thompson, Philip J Matheson, Melanie C Le Souëf, Peter Pourcain, Beate St Smith, George Davey Henderson, John Kemp, John P Timpson, Nicholas J Deloukas, Panos Ring, Susan M Wichmann, H-Erich Müller-Nurasyid, Martina Novak, Natalija Klopp, Norman Rodríguez, Elke McArdle, Wendy Linneberg, Allan Menné, Torkil Nohr, Ellen A Hofman, Albert Uitterlinden, André G van Duijn, Cornélia M Rivadeneira, Fernando de Jongste, Johan C van der Valk, Ralf JP 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 MT Thiering, Elisabeth Illig, Thomas Imboden, Medea Nystad, Wenche Simpson, Angela Hottenga, Jouke-Jan Postma, Dirkje Koppelman, Gerard H Smit, Henriette A Söderhäll, Cilla Chawes, Bo Kreiner-Møller, Eskil Bisgaard, Hans Melén, 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 WV Gieger, Christian Strachan, David P Martin, Nicholas G Jarvelin, Marjo-Riitta Heinrich, Joachim Evans, David M Weidinger, Stephan |
| author_facet | Paternoster, Lavinia Standl, Marie Chen, Chih-Mei Ramasamy, Adaikalavan Bønnelykke, Klaus Duijts, Liesbeth Ferreira, Manuel A Alves, Alexessander Couto Thyssen, Jacob P Albrecht, Eva Baurecht, Hansjörg Feenstra, Bjarke Sleiman, Patrick MA Hysi, Pirro Warrington, Nicole M Curjuric, Ivan Myhre, Ronny Curtin, John A Groen-Blokhuis, Maria M Kerkhof, Marjan Sääf, Annika Franke, Andre Ellinghaus, David Fölster-Holst, Regina Dermitzakis, Emmanouil Montgomery, Stephen B Prokisch, Holger Heim, Katharina Hartikainen, Anna-Liisa Pouta, Anneli Pekkanen, Juha Blakemore, Alexandra IF Buxton, Jessica L Kaakinen, Marika Duffy, David L Madden, Pamela A Heath, Andrew C Montgomery, Grant W Thompson, Philip J Matheson, Melanie C Le Souëf, Peter Pourcain, Beate St Smith, George Davey Henderson, John Kemp, John P Timpson, Nicholas J Deloukas, Panos Ring, Susan M Wichmann, H-Erich Müller-Nurasyid, Martina Novak, Natalija Klopp, Norman Rodríguez, Elke McArdle, Wendy Linneberg, Allan Menné, Torkil Nohr, Ellen A Hofman, Albert Uitterlinden, André G van Duijn, Cornélia M Rivadeneira, Fernando de Jongste, Johan C van der Valk, Ralf JP 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 MT Thiering, Elisabeth Illig, Thomas Imboden, Medea Nystad, Wenche Simpson, Angela Hottenga, Jouke-Jan Postma, Dirkje Koppelman, Gerard H Smit, Henriette A Söderhäll, Cilla Chawes, Bo Kreiner-Møller, Eskil Bisgaard, Hans Melén, 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 WV Gieger, Christian Strachan, David P Martin, Nicholas G Jarvelin, Marjo-Riitta Heinrich, Joachim Evans, David M Weidinger, Stephan |
| author_sort | Paternoster, Lavinia |
| collection | PubMed |
| description | Atopic dermatitis (AD) is a common chronic skin disease with high heritability. Apart from filaggrin (FLG), the genes influencing AD are largely unknown. We conducted a genome-wide association meta-analysis of 5,606 cases and 20,565 controls from 16 population-based cohorts and followed up the ten most strongly associated novel markers in a further 5,419 cases and 19,833 controls from 14 studies. Three SNPs met genome-wide significance in the discovery and replication cohorts combined: rs479844 upstream of OVOL1 (OR=0.88, p=1.1×10(−13)) and rs2164983 near ACTL9 (OR=1.16, p=7.1×10(−9)), genes which have been implicated in epidermal proliferation and differentiation, as well as rs2897442 in KIF3A within the cytokine cluster on 5q31.1 (OR=1.11, p=3.8×10(−8)). We also replicated the FLG locus and two recently identified association signals at 11q13.5 (rs7927894, p=0.008) and 20q13.3 (rs6010620, p=0.002). Our results underline the importance of both epidermal barrier function and immune dysregulation in AD pathogenesis. |
| format | Online Article Text |
| id | pubmed-3272375 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2011 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-32723752012-08-01 META-ANALYSIS OF GENOME-WIDE ASSOCIATION STUDIES IDENTIFIES THREE NEW RISK LOCI FOR ATOPIC DERMATITIS Paternoster, Lavinia Standl, Marie Chen, Chih-Mei Ramasamy, Adaikalavan Bønnelykke, Klaus Duijts, Liesbeth Ferreira, Manuel A Alves, Alexessander Couto Thyssen, Jacob P Albrecht, Eva Baurecht, Hansjörg Feenstra, Bjarke Sleiman, Patrick MA Hysi, Pirro Warrington, Nicole M Curjuric, Ivan Myhre, Ronny Curtin, John A Groen-Blokhuis, Maria M Kerkhof, Marjan Sääf, Annika Franke, Andre Ellinghaus, David Fölster-Holst, Regina Dermitzakis, Emmanouil Montgomery, Stephen B Prokisch, Holger Heim, Katharina Hartikainen, Anna-Liisa Pouta, Anneli Pekkanen, Juha Blakemore, Alexandra IF Buxton, Jessica L Kaakinen, Marika Duffy, David L Madden, Pamela A Heath, Andrew C Montgomery, Grant W Thompson, Philip J Matheson, Melanie C Le Souëf, Peter Pourcain, Beate St Smith, George Davey Henderson, John Kemp, John P Timpson, Nicholas J Deloukas, Panos Ring, Susan M Wichmann, H-Erich Müller-Nurasyid, Martina Novak, Natalija Klopp, Norman Rodríguez, Elke McArdle, Wendy Linneberg, Allan Menné, Torkil Nohr, Ellen A Hofman, Albert Uitterlinden, André G van Duijn, Cornélia M Rivadeneira, Fernando de Jongste, Johan C van der Valk, Ralf JP 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 MT Thiering, Elisabeth Illig, Thomas Imboden, Medea Nystad, Wenche Simpson, Angela Hottenga, Jouke-Jan Postma, Dirkje Koppelman, Gerard H Smit, Henriette A Söderhäll, Cilla Chawes, Bo Kreiner-Møller, Eskil Bisgaard, Hans Melén, 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 WV Gieger, Christian Strachan, David P Martin, Nicholas G Jarvelin, Marjo-Riitta Heinrich, Joachim Evans, David M Weidinger, Stephan Nat Genet Article Atopic dermatitis (AD) is a common chronic skin disease with high heritability. Apart from filaggrin (FLG), the genes influencing AD are largely unknown. We conducted a genome-wide association meta-analysis of 5,606 cases and 20,565 controls from 16 population-based cohorts and followed up the ten most strongly associated novel markers in a further 5,419 cases and 19,833 controls from 14 studies. Three SNPs met genome-wide significance in the discovery and replication cohorts combined: rs479844 upstream of OVOL1 (OR=0.88, p=1.1×10(−13)) and rs2164983 near ACTL9 (OR=1.16, p=7.1×10(−9)), genes which have been implicated in epidermal proliferation and differentiation, as well as rs2897442 in KIF3A within the cytokine cluster on 5q31.1 (OR=1.11, p=3.8×10(−8)). We also replicated the FLG locus and two recently identified association signals at 11q13.5 (rs7927894, p=0.008) and 20q13.3 (rs6010620, p=0.002). Our results underline the importance of both epidermal barrier function and immune dysregulation in AD pathogenesis. 2011-12-25 /pmc/articles/PMC3272375/ /pubmed/22197932 http://dx.doi.org/10.1038/ng.1017 Text en Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms |
| spellingShingle | Article Paternoster, Lavinia Standl, Marie Chen, Chih-Mei Ramasamy, Adaikalavan Bønnelykke, Klaus Duijts, Liesbeth Ferreira, Manuel A Alves, Alexessander Couto Thyssen, Jacob P Albrecht, Eva Baurecht, Hansjörg Feenstra, Bjarke Sleiman, Patrick MA Hysi, Pirro Warrington, Nicole M Curjuric, Ivan Myhre, Ronny Curtin, John A Groen-Blokhuis, Maria M Kerkhof, Marjan Sääf, Annika Franke, Andre Ellinghaus, David Fölster-Holst, Regina Dermitzakis, Emmanouil Montgomery, Stephen B Prokisch, Holger Heim, Katharina Hartikainen, Anna-Liisa Pouta, Anneli Pekkanen, Juha Blakemore, Alexandra IF Buxton, Jessica L Kaakinen, Marika Duffy, David L Madden, Pamela A Heath, Andrew C Montgomery, Grant W Thompson, Philip J Matheson, Melanie C Le Souëf, Peter Pourcain, Beate St Smith, George Davey Henderson, John Kemp, John P Timpson, Nicholas J Deloukas, Panos Ring, Susan M Wichmann, H-Erich Müller-Nurasyid, Martina Novak, Natalija Klopp, Norman Rodríguez, Elke McArdle, Wendy Linneberg, Allan Menné, Torkil Nohr, Ellen A Hofman, Albert Uitterlinden, André G van Duijn, Cornélia M Rivadeneira, Fernando de Jongste, Johan C van der Valk, Ralf JP 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 MT Thiering, Elisabeth Illig, Thomas Imboden, Medea Nystad, Wenche Simpson, Angela Hottenga, Jouke-Jan Postma, Dirkje Koppelman, Gerard H Smit, Henriette A Söderhäll, Cilla Chawes, Bo Kreiner-Møller, Eskil Bisgaard, Hans Melén, 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 WV Gieger, Christian Strachan, David P Martin, Nicholas G Jarvelin, Marjo-Riitta Heinrich, Joachim Evans, David M Weidinger, Stephan 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 |
| title_full | META-ANALYSIS OF GENOME-WIDE ASSOCIATION STUDIES IDENTIFIES THREE NEW RISK LOCI FOR ATOPIC DERMATITIS |
| title_fullStr | META-ANALYSIS OF GENOME-WIDE ASSOCIATION STUDIES IDENTIFIES THREE NEW RISK LOCI FOR ATOPIC DERMATITIS |
| title_full_unstemmed | META-ANALYSIS OF GENOME-WIDE ASSOCIATION STUDIES IDENTIFIES THREE NEW RISK LOCI FOR ATOPIC DERMATITIS |
| title_short | META-ANALYSIS OF GENOME-WIDE ASSOCIATION STUDIES IDENTIFIES THREE NEW RISK LOCI FOR ATOPIC DERMATITIS |
| title_sort | meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272375/ https://www.ncbi.nlm.nih.gov/pubmed/22197932 http://dx.doi.org/10.1038/ng.1017 |
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