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http://bura.brunel.ac.uk/handle/2438/14699
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. |
URI: | http://bura.brunel.ac.uk/handle/2438/14699 |
DOI: | http://dx.doi.org/10.1038/ng.1017 |
ISSN: | 1061-4036 |
Appears in Collections: | Dept of Life Sciences Research Papers |
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