DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Atopic dermatitis. The EFO term atopic eczema was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: atopic eczema

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

L Paternoster, M Standl, CM Chen, A Ramasamy, K Bønnelykke, L Duijts, MA Ferreira, AC Alves, JP Thyssen, E Albrecht, H Baurecht, B Feenstra, PM Sleiman, P Hysi, NM Warrington, I Curjuric, R Myhre, JA Curtin, MM Groen-Blokhuis, M Kerkhof, A Sääf, A Franke, D Ellinghaus, R Fölster-Holst, E Dermitzakis, SB Montgomery, H Prokisch, K Heim, AL Hartikainen, A Pouta, J Pekkanen, AI Blakemore, JL Buxton, M Kaakinen, DL Duffy, PA Madden, AC Heath, GW Montgomery, PJ Thompson, MC Matheson, P Le Souëf, B St Pourcain, GD Smith, J Henderson, JP Kemp, NJ Timpson, P Deloukas, SM Ring, HE Wichmann, M Müller-Nurasyid, N Novak, N Klopp, E Rodríguez, W McArdle, A Linneberg, T Menné, EA Nohr, A Hofman, AG Uitterlinden, CM van Duijn, F Rivadeneira, JC de Jongste, RJ van der Valk, M Wjst, R Jogi, F Geller, HA Boyd, JC Murray, C Kim, F Mentch, M March, M Mangino, TD Spector, V Bataille, CE Pennell, PG Holt, P Sly, CM Tiesler, E Thiering, T Illig, M Imboden, W Nystad, A Simpson, JJ Hottenga, D Postma, GH Koppelman, HA Smit, C Söderhäll, B Chawes, E Kreiner-Møller, H Bisgaard, E Melén, DI Boomsma, A Custovic, B Jacobsson, NM Probst-Hensch, LJ Palmer, D Glass, H Hakonarson, M Melbye, DL Jarvis, VW Jaddoe, C Gieger, DP Strachan, NG Martin, MR Jarvelin, J Heinrich, DM Evans, S Weidinger

TITLE:

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.

JOURNAL:

Nature genetics Dec 2011, Vol 44, pp. 187-92

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. PUBMED: 22197932
Find other GeneSets from this publication