Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis
| Autor: | Norman Klopp, Chih-Mei Chen, Erik Melén, Dirkje S. Postma, Klaus Bønnelykke, Gerard H. Koppelman, Ivan Curjuric, Massimo Mangino, Nicholas J. Timpson, Alexandra I. F. Blakemore, Stephen B. Montgomery, Marjo-Riitta Järvelin, Anneli Pouta, Dorret I. Boomsma, Melanie C. Matheson, Albert Hofman, Matthias Wjst, Hans Bisgaard, Natalija Novak, Deborah Jarvis, Grant W. Montgomery, Frank Geller, Beate St Pourcain, Craig E. Pennell, Manuel A. R. Ferreira, Andre Franke, Alexessander Couto Alves, Frank D. Mentch, Vincent W. V. Jaddoe, Marie Standl, Nicole M. Warrington, Jouke-Jan Hottenga, Jessica L. Buxton, Peter N. Le Souëf, Bjarke Feenstra, Peter D. Sly, Bo L. Chawes, Martina Mueller-Nurasyid, Angela Simpson, Philip J. Thompson, Jacob P. Thyssen, Patrick G. Holt, Eskil Kreiner-Møller, David L. Duffy, Thomas Illig, Johan C. de Jongste, Bo Jacobsson, Joachim Heinrich, Mads Melbye, Wenche Nystad, H-Erich Wichmann, Medea Imboden, Wendy L. McArdle, Carla M. T. Tiesler, Susan M. Ring, Jeff Murray, Lavinia Paternoster, Torkil Menné, Marjan Kerkhof, John Henderson, Ronny Myhre, Lyle J. Palmer, George Davey Smith, Eva Albrecht, Pamela A. F. Madden, Marika Kaakinen, Hansjoerg Baurecht, Nicole Probst-Hensch, Cecilia Kim, Cornelia M. van Duijin, Panos Deloukas, Patrick M. A. Sleiman, Christian Gieger, John A. Curtin, Adnan Custovic, Daniel Glass, Cilla Söderhäll, Annika Sääf, Elke Rodriguez, Nicholas G. Martin, Stephan Weidinger, Tim D. Spector, Adaikalavan Ramasamy, John P. Kemp, Heather A. Boyd, Elisabeth Thiering, David P. Strachan, Anna-Liisa Hartikainen, Hakon Hakonarson, Allan Linneberg, Ralf J. P. van der Valk, Pirro G. Hysi, David M. Evans, Rain Jögi, Ellen A. Nohr, Liesbeth Duijts, Katharina Heim, Veronique Bataille, Fernando Rivadeneira, Maria M. Groen-Blokhuis, Andrew C. Heath, David Ellinghaus, Michael E. March, Holger Prokisch, Regina Foelster-Holst, André G. Uitterlinden, Emmanouil T. Dermitzakis, Juha Pekkanen, Henriette A. Smit |
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| Přispěvatelé: | Medical Research Council (MRC), Dermitzakis, Emmanouil, Montgomery, Stephen, Biological Psychology, EMGO+ - Mental Health, Pediatrics, Surgery, Internal Medicine, Epidemiology, Erasmus MC other, Public Health, Groningen Research Institute of Pharmacy, Faculteit Medische Wetenschappen/UMCG, Groningen Research Institute for Asthma and COPD (GRIAC) |
| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Male
Genetics of Overweight Young Adults (GOYA) Consortium Netherlands Twin Register (NTR) Epidemiology 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 Chromosomes Human Pair 20 Kinesins Genome-wide association study Filaggrin Proteins VARIANTS Chromosomes Human Pair 11/genetics medicine.disease_cause Genome-wide association studies DISEASE 030207 dermatology & venereal diseases 0302 clinical medicine Intermediate Filament Proteins Epidermis/immunology ddc:576.5 GENETICS & HEREDITY Genetics 0303 health sciences education.field_of_study PSORIASIS Cytokines/genetics Cell Differentiation Kinesin 11 Medical And Health Sciences Atopic dermatitis 3. Good health DNA-Binding Proteins DIFFERENTIATION Chromosomes Human Pair 5 Cytokines Female Dermatitis Atopic/genetics/immunology Life Sciences & Biomedicine Kinesin/genetics Filaggrin EXPRESSION Risk Cell Differentiation/genetics Population Transcription Factors/genetics Single-nucleotide polymorphism Locus (genetics) Biology Polymorphism Single Nucleotide Australian Asthma Genetics Consortium (AAGC) Article MECHANISMS Dermatitis Atopic 03 medical and health sciences SDG 3 - Good Health and Well-being medicine FILAGGRIN Humans SPERMATOGENESIS Genetic Predisposition to Disease EArly Genetics & Lifecourse Epidemiology (EAGLE) Consortium education 030304 developmental biology Science & Technology Chromosomes Human Pair 11 Odds ratio 06 Biological Sciences Immune dysregulation medicine.disease Chromosomes Human Pair 20/genetics Genetic Loci Intermediate Filament Proteins/genetics Immunology ASTHMA Epidermis CELLULAR MOTILITY DNA-Binding Proteins/genetics Genome-Wide Association Study Transcription Factors Developmental Biology |
| Zdroj: | Paternoster, L, Standl, M, Chen, C-M, Ramasamy, A, Bønnelykke, K, Duijts, L, Ferreira, M A, Alves, A C, Thyssen, J P, Albrecht, E, Baurecht, H, Feenstra, B, Sleiman, P M A, Hysi, P, Warrington, N M, Curjuric, I, Myhre, R, Curtin, J A, Groen-Blokhuis, M M, Kerkhof, M, Sääf, A, Franke, A, Ellinghaus, D, Fölster-Holst, R, Dermitzakis, E, Montgomery, S B, Prokisch, H, Heim, K, Hartikainen, A-L, Pouta, A, Pekkanen, J, Blakemore, A I F, Buxton, J L, Kaakinen, M, Duffy, D L, Madden, P A, Heath, A C, Montgomery, G W, Thompson, P J, Matheson, M C, Le Souëf, P, Pourcain, B S, Smith, G D, Henderson, J, Kemp, J P, Timpson, N J, Deloukas, P, Ring, S M, Wichmann, H-E, Nøhr, E A & Australian Asthma Genetics Consortium (AAGC) 2011, ' Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis ', Nature Genetics, vol. 44, no. 2, pp. 187-192 . https://doi.org/10.1038/ng.1017 Nature Genetics Nature Genetics; Vol 44 Paternoster, L, Standl, M, Chen, C-M, Ramasamy, A, Bønnelykke, K, Duijts, L, Ferreira, M A, Alves, A C, Thyssen, J P, Albrecht, E, Baurecht, H, Feenstra, B, Sleiman, P M A, Hysi, P, Warrington, N M, Curjuric, I, Myhre, R, Curtin, J A, Groen-Blokhuis, M M, Kerkhof, M, Sääf, A, Franke, A, Ellinghaus, D, Fölster-Holst, R, Dermitzakis, E, Montgomery, S B, Prokisch, H, Heim, K, Hartikainen, A-L, Pouta, A, Pekkanen, J, Blakemore, A I F, Buxton, J L, Kaakinen, M, Duffy, D L, Madden, P A, Heath, A C, Montgomery, G W, Thompson, P J, Matheson, M C, Le Souëf, P, Pourcain, B S, Smith, G D, Henderson, J, Kemp, J P, Timpson, N J, Deloukas, P, Ring, S M, Nøhr, E A, Jacobsson, B & Australian Asthma Genetics Consortium (AAGC) 2011, ' Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis ', Nature Genetics, vol. 44, no. 2, pp. 187-192 . https://doi.org/10.1038/ng.1017 Nature Genetics, Vol. 44, No 2 (2012) pp. 187-92 Nature genetics Nature Genetics, 44(2), 187-192. Nature Publishing Group Paternoster, L, Standl, M, Chen, C-M, Ramasamy, A, Bonnelykke, K, Duijts, L, Ferreira, M A, Alves, A C, Thyssen, J P, Albrecht, E, Baurecht, H, Feenstra, B, Sleiman, P M A, Hysi, P, Warrington, N M, Curjuric, I, Myhre, R, Curtin, J A, Groen-Blokhuis, M M, Kerkhof, M, Saaf, A, Franke, A, Ellinghaus, D, Foelster-Holst, R, Dermitzakis, E, Montgomery, S B, Prokisch, H, Heim, K, Hartikainen, A-L, Pouta, A, Pekkanen, J, Blakemore, A I F, Buxton, J L, Kaakinen, M, Duffy, D L, Madden, P A, Heath, A C, Montgomery, G W, Thompson, P J, Matheson, M C, Le Souef, P, St Pourcain, B, Smith, G D, Henderson, J, Kemp, J P, Timpson, N J, Deloukas, P, Ring, S M, Wichmann, H-E, Mueller-Nurasyid, M, Novak, N, Klopp, N, Rodriguez, E, McArdle, W, Linneberg, A, Menne, T, Nohr, E A, Hofman, A, Uitterlinden, A G, van Duijin, C M, Rivadeneira, F, de Jongste, J C, van der Valk, R J P, Wjst, M, Jogi, R, Geller, F, Boyd, H A, Murray, J C, Kim, C, Mentch, F, March, M, Mangino, M, Spector, T D, Bataille, V, Pennell, C E, Holt, P G, Sly, P, Tiesler, C M T, Thiering, E, Illig, T, Imboden, M, Nystad, W, Simpson, A, Hottenga, J-J, Postma, D, Koppelman, G H, Smit, H A, Soderhall, C, Chawes, B, Kreiner-Moller, E, Bisgaard, H, Melen, E, Boomsma, D I, Custovic, A, Jacobsson, B, Probst-Hensch, N M, Palmer, L J, Glass, D, Hakonarson, H, Melbye, M, Jarvis, D L, Jaddoe, V W V, Gieger, C, Strachan, D P, Martin, N G, Jarvelin, M-R, Heinrich, J, Evans, D M & Weidinger, S 2012, ' Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis ', Nature Genetics, vol. 44, no. 2, pp. 187-192 . https://doi.org/10.1038/ng.1017 Paternoster, L, Standl, M, Chen, C M, Ramasamy, A, Bønnelykke, K, Duijts, L, Ferreira, M A, Couto Alves, A, Thyssen, J P, Albrecht, E, Baurecht, H, Feenstra, B, Sleiman, P M A, Hysi, P, Warrington, N M, Curjuric, I, Myhre, R, Curtin, J A, Groen-Blokhuis, M M, Kerkhof, M, Sääf, A, Franke, A, Ellinghaus, D, Fölster-Holst, R, Dermitzakis, E, Montgomery, S B, Prokisch, H, Heim, K, Hartikainen, A-L, Pouta, A, Pekkanen, J, Blakemore, A I F, Buxton, J L, Kaakinen, M, Duffy, DL, Madden, P A F, Heath, A C, Montgomery, G W, Thompson, P J, Matheson, M C, Le Souëf, P, St Pourcain, B, Davey Smith, G, Henderson, J, Kemp, J P, Timpson, N J, Deloukas, P, Ring, S M, Wichmann, H-E, Müller-Nurasyid, M, Novak, N, Klopp, N, Rodríguez, E, McArdle, W, Linneberg, A, Menné, T, Nohr, E A, Hofman, A, Uitterlinden, A G, van Duijn, C M, Rivadeneira, F, de Jongste, J C, van der Valk, R J P, Wjst, M, Jogi, R, Geller, F, Boyd, H A, Murray, J C, Kim, C, Mentch, F, March, M, Mangino, M, Spector, T D, Bataille, V, Pennell, C E, Holt, P G, Sly, P, Tiesler, C M T, Hottenga, J J, Boomsma, D I, Hakonarson, H, Melbye, M, Ljarvis, D, Jaddoe, V W V, Gieger, C, Strachan, D P, Martin, N G, Jarvelin, M-R, Heinrich, J, Evans, D M & Weidinger, S 2012, ' Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis ', Nature Genetics, vol. 44, no. 2, pp. 187-192 . https://doi.org/10.1038/ng.1017 |
| ISSN: | 1546-1718 1061-4036 |
| DOI: | 10.1038/ng.1017 |
| Popis: | 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. © 2012 Nature America, Inc. All rights reserved. |
| Databáze: | OpenAIRE |
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