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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.
Translated title of the contribution | Meta-analysis of genome-wide association studies identifies three novel risk loci for atopic dermatitis |
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Original language | English |
Pages (from-to) | 187-192 |
Number of pages | 6 |
Journal | Nature Genetics |
Volume | 44 |
Issue number | 2 |
Early online date | 25 Dec 2011 |
DOIs | |
Publication status | Published - Feb 2012 |
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Dive into the research topics of 'Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis'. Together they form a unique fingerprint.Projects
- 3 Finished
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B603 THE EFFECT OF COMMON DISEASE ASSOCIATED GENETIC VARIANTS ON TRANSCRIPTOMIC AND EARLY LIFE PHENOTYPES
Evans, D. (Principal Investigator)
1/09/08 → 1/09/11
Project: Research
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THE NATURAL HISTORY OF ASTHMA AND WHEEZING ILLNESSES FROM BIRTH TO ADOLESCENCE: DETERMINANTS OF THE REMISSION OF ASTHMA
Henderson, A. J. W. (Principal Investigator)
1/10/06 → 1/10/10
Project: Research
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