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Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants
Lam C Tsoi1,2,3, Philip E Stuart1, Chao Tian4
1Department of Dermatology, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA.
Nature Communications
|May 25, 2017
Summary
This study identified 16 new genetic risk factors for psoriasis, bringing the total to 63. These findings enhance understanding of psoriasis genetics and can predict disease risk.
Area of Science:
- Genetics
- Dermatology
- Immunology
Background:
- Psoriasis affects approximately 2% of the population.
- Understanding the genetic basis of psoriasis is crucial for developing effective treatments.
Purpose of the Study:
- To conduct the largest meta-analysis of genome-wide association studies (GWAS) for psoriasis to date.
- To identify novel genetic susceptibility loci for psoriasis in individuals of European origin.
Main Methods:
- Meta-analysis of GWAS data from eight Caucasian cohorts.
- Combined effective sample size exceeding 39,000 individuals.
- Functional analysis of identified loci and enrichment in immune cell regulatory elements.
Main Results:
- Identification of 16 additional genome-wide significant psoriasis susceptibility loci, bringing the total to 63.
- Highlighting the involvement of interferon signaling and the NFκB cascade.
- Psoriasis signals enriched in regulatory elements of CD8+ and CD4+ T cells (including TH0, TH1, TH17).
- Identified loci explain approximately 28% of genetic heritability.
- A genetic risk score achieved an AUC of 0.76 and strongly correlated with age at onset.
Conclusions:
- This study significantly expands the known genetic architecture of psoriasis.
- Provides a comprehensive layout of common variant associations for psoriasis.
- Offers potential for improved genetic risk prediction and understanding of disease mechanisms.
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