Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis
Paternoster, L
Standl, M
Chen, CM
Ramasamy, A
Bøpnnelykke, K
Duijts, L
Ferreira, MA
Alves, AC
Thyssen, JP
Albrecht, E
Baurecht, H
Feenstra, B
Sleiman, PMA
Hysi, P
Warrington, NM
Curjuric, I
Myhre, R
Curtin, JA
Groen-Blokhuis, MM
Kerkhof, M
Sääf, A
Franke, A
Ellinghaus, D
Fölster-Holst, R
Dermitzakis, E
Montgomery, SB
Prokisch, H
Heim, K
Hartikainen, AL
Pouta, A
Pekkanen, J
Blakemore, AIF
Buxton, JL
Kaakinen, M
Duffy, DL
Madden, PA
Heath, AC
Montgomery, GW
Thompson, PJ
Matheson, MC
Le Souëf, P
Pourcain, BS
Smith, GD
Henderson, J
Kemp, JP
Timpson, NJ
Deloukas, P
Ring, SM
Wichmann, HE
Müller-Nurasyid, M
Novak, N
Klopp, N
Rodríguez, E
McArdle, W
Linneberg, A
Menné, T
Nohr, EA
Hofman, A
Uitterlinden, AG
Van Duijn, CM
Rivadeneira, F
De Jongste, JC
Van Der Valk, RJP
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, CMT
Thiering, E
Illig, T
Imboden, M
Nystad, W
Simpson, A
Hottenga, JJ
Postma, D
Koppelman, GH
Smit, HA
Söderhäll, C
Chawes, B
Kreiner-Møpller, E
Bisgaard, H
Melén, E
Boomsma, DI
Custovic, A
Jacobsson, B
Probst-Hensch, NM
Palmer, LJ
Glass, D
Hakonarson, H
Melbye, M
- Publication Type:
- Journal Article
- Citation:
- Nature Genetics, 2012, 44 (2), pp. 187 - 192
- Issue Date:
- 2012-02-01
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Full metadata record
Field | Value | Language |
---|---|---|
dc.contributor.author | Paternoster, L | en_US |
dc.contributor.author | Standl, M | en_US |
dc.contributor.author | Chen, CM | en_US |
dc.contributor.author | Ramasamy, A | en_US |
dc.contributor.author | Bøpnnelykke, K | en_US |
dc.contributor.author | Duijts, L | en_US |
dc.contributor.author | Ferreira, MA | en_US |
dc.contributor.author | Alves, AC | en_US |
dc.contributor.author | Thyssen, JP | en_US |
dc.contributor.author | Albrecht, E | en_US |
dc.contributor.author | Baurecht, H | en_US |
dc.contributor.author | Feenstra, B | en_US |
dc.contributor.author | Sleiman, PMA | en_US |
dc.contributor.author | Hysi, P | en_US |
dc.contributor.author | Warrington, NM | en_US |
dc.contributor.author | Curjuric, I | en_US |
dc.contributor.author | Myhre, R | en_US |
dc.contributor.author | Curtin, JA | en_US |
dc.contributor.author | Groen-Blokhuis, MM | en_US |
dc.contributor.author | Kerkhof, M | en_US |
dc.contributor.author | Sääf, A | en_US |
dc.contributor.author | Franke, A | en_US |
dc.contributor.author | Ellinghaus, D | en_US |
dc.contributor.author | Fölster-Holst, R | en_US |
dc.contributor.author | Dermitzakis, E | en_US |
dc.contributor.author | Montgomery, SB | en_US |
dc.contributor.author | Prokisch, H | en_US |
dc.contributor.author | Heim, K | en_US |
dc.contributor.author | Hartikainen, AL | en_US |
dc.contributor.author | Pouta, A | en_US |
dc.contributor.author | Pekkanen, J | en_US |
dc.contributor.author | Blakemore, AIF | en_US |
dc.contributor.author | Buxton, JL | en_US |
dc.contributor.author | Kaakinen, M | en_US |
dc.contributor.author | Duffy, DL | en_US |
dc.contributor.author | Madden, PA | en_US |
dc.contributor.author | Heath, AC | en_US |
dc.contributor.author | Montgomery, GW | en_US |
dc.contributor.author | Thompson, PJ | en_US |
dc.contributor.author | Matheson, MC | en_US |
dc.contributor.author | Le Souëf, P | en_US |
dc.contributor.author | Pourcain, BS | en_US |
dc.contributor.author | Smith, GD | en_US |
dc.contributor.author | Henderson, J | en_US |
dc.contributor.author | Kemp, JP | en_US |
dc.contributor.author | Timpson, NJ | en_US |
dc.contributor.author | Deloukas, P | en_US |
dc.contributor.author | Ring, SM | en_US |
dc.contributor.author | Wichmann, HE | en_US |
dc.contributor.author | Müller-Nurasyid, M | en_US |
dc.contributor.author | Novak, N | en_US |
dc.contributor.author | Klopp, N | en_US |
dc.contributor.author | Rodríguez, E | en_US |
dc.contributor.author | McArdle, W | en_US |
dc.contributor.author | Linneberg, A | en_US |
dc.contributor.author | Menné, T | en_US |
dc.contributor.author | Nohr, EA | en_US |
dc.contributor.author | Hofman, A | en_US |
dc.contributor.author | Uitterlinden, AG | en_US |
dc.contributor.author | Van Duijn, CM | en_US |
dc.contributor.author | Rivadeneira, F | en_US |
dc.contributor.author | De Jongste, JC | en_US |
dc.contributor.author | Van Der Valk, RJP | en_US |
dc.contributor.author | Wjst, M | en_US |
dc.contributor.author | Jogi, R | en_US |
dc.contributor.author | Geller, F | en_US |
dc.contributor.author | Boyd, HA | en_US |
dc.contributor.author | Murray, JC | en_US |
dc.contributor.author | Kim, C | en_US |
dc.contributor.author | Mentch, F | en_US |
dc.contributor.author | March, M | en_US |
dc.contributor.author | Mangino, M | en_US |
dc.contributor.author | Spector, TD | en_US |
dc.contributor.author | Bataille, V | en_US |
dc.contributor.author | Pennell, CE | en_US |
dc.contributor.author | Holt, PG | en_US |
dc.contributor.author | Sly, P | en_US |
dc.contributor.author | Tiesler, CMT | en_US |
dc.contributor.author | Thiering, E | en_US |
dc.contributor.author | Illig, T | en_US |
dc.contributor.author | Imboden, M | en_US |
dc.contributor.author | Nystad, W | en_US |
dc.contributor.author | Simpson, A | en_US |
dc.contributor.author | Hottenga, JJ | en_US |
dc.contributor.author | Postma, D | en_US |
dc.contributor.author | Koppelman, GH | en_US |
dc.contributor.author | Smit, HA | en_US |
dc.contributor.author | Söderhäll, C | en_US |
dc.contributor.author | Chawes, B | en_US |
dc.contributor.author | Kreiner-Møpller, E | en_US |
dc.contributor.author | Bisgaard, H | en_US |
dc.contributor.author | Melén, E | en_US |
dc.contributor.author | Boomsma, DI | en_US |
dc.contributor.author | Custovic, A | en_US |
dc.contributor.author | Jacobsson, B | en_US |
dc.contributor.author | Probst-Hensch, NM | en_US |
dc.contributor.author | Palmer, LJ | en_US |
dc.contributor.author | Glass, D | en_US |
dc.contributor.author | Hakonarson, H | en_US |
dc.contributor.author | Melbye, M | en_US |
dc.date.available | 2011-11-01 | en_US |
dc.date.issued | 2012-02-01 | en_US |
dc.identifier.citation | Nature Genetics, 2012, 44 (2), pp. 187 - 192 | en_US |
dc.identifier.issn | 1061-4036 | en_US |
dc.identifier.uri | http://hdl.handle.net/10453/113594 | |
dc.description.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. © 2012 Nature America, Inc. All rights reserved. | en_US |
dc.relation.ispartof | Nature Genetics | en_US |
dc.relation.isbasedon | 10.1038/ng.1017 | en_US |
dc.subject.classification | Developmental Biology | en_US |
dc.subject.mesh | Epidermis | en_US |
dc.subject.mesh | Chromosomes, Human, Pair 5 | en_US |
dc.subject.mesh | Chromosomes, Human, Pair 11 | en_US |
dc.subject.mesh | Chromosomes, Human, Pair 20 | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Dermatitis, Atopic | en_US |
dc.subject.mesh | Genetic Predisposition to Disease | en_US |
dc.subject.mesh | Intermediate Filament Proteins | en_US |
dc.subject.mesh | Kinesin | en_US |
dc.subject.mesh | DNA-Binding Proteins | en_US |
dc.subject.mesh | Transcription Factors | en_US |
dc.subject.mesh | Cytokines | en_US |
dc.subject.mesh | Risk | en_US |
dc.subject.mesh | Cell Differentiation | en_US |
dc.subject.mesh | Polymorphism, Single Nucleotide | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Genome-Wide Association Study | en_US |
dc.subject.mesh | Genetic Loci | en_US |
dc.title | Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis | en_US |
dc.type | Journal Article | |
utslib.citation.volume | 2 | en_US |
utslib.citation.volume | 44 | en_US |
utslib.for | 060406 Genetic Immunology | en_US |
utslib.for | 11 Medical and Health Sciences | en_US |
utslib.for | 06 Biological Sciences | en_US |
pubs.embargo.period | Not known | en_US |
pubs.organisational-group | /University of Technology Sydney | |
pubs.organisational-group | /University of Technology Sydney/Faculty of Health | |
utslib.copyright.status | open_access | |
pubs.issue | 2 | en_US |
pubs.publication-status | Published | en_US |
pubs.volume | 44 | en_US |
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. © 2012 Nature America, Inc. All rights reserved.
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