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Title: Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis
Authors: Paternoster, L
Standl, M
Chen, C-M
Ramasamy, A
Bonnelykke, K
Duijts, L
Ferreira, MA
Alves, AC
Thyssen, JP
Albrecht, E
Baurecht, H
Melen, E
Boomsma, DI
Custovic, A
Jacobsson, B
Probst-Hensch, NM
Palmer, LJ
Glass, D
Hakonarson, H
Melbye, M
Jarvis, DL
Jaddoe, VWV
Gieger, C
Strachan, DP
Martin, NG
Jarvelin, M-R
Heinrich, J
Evans, DM
Weidinger, S
Feenstra, B
Sleiman, PMA
Hysi, P
Warrington, NM
Curjuric, I
Myhre, R
Curtin, JA
Groen-Blokhuis, MM
Kerkhof, M
Saaf, A
Franke, A
Ellinghaus, D
Foelster-Holst, R
Dermitzakis, E
Montgomery, SB
Prokisch, H
Heim, K
Hartikainen, A-L
Pouta, A
Pekkanen, J
Blakemore, AIF
Buxton, JL
Kaakinen, M
Duffy, DL
Madden, PA
Heath, AC
Montgomery, GW
Thompson, PJ
Matheson, MC
Le Souef, P
St Pourcain, B
Smith, GD
Henderson, J
Kemp, JP
Timpson, NJ
Deloukas, P
Ring, SM
Wichmann, H-E
Mueller-Nurasyid, M
Novak, N
Klopp, N
Rodriguez, E
McArdle, W
Linneberg, A
Menne, T
Nohr, EA
Hofman, A
Uitterlinden, AG
van Duijin, 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, J-J
Postma, D
Koppelman, GH
Smit, HA
Soderhall, C
Chawes, B
Kreiner-Moller, E
Bisgaard, H
Keywords: Atopic dermatitis;Epidemiology;Genetic predisposition to disease;Genome-wide association studies
Issue Date: 2012
Publisher: Nature Publishing Group
Citation: Nature Genetics, 44(2): pp. 187 - 192, (2012)
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.
ISSN: 1061-4036
Appears in Collections:Dept of Life Sciences Research Papers

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