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European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation

Budu-Aggrey, A. ; Fadista, J. LU ; Standl, M. and Paternoster, L. (2023) In Nature Communications 14(1).
Abstract
Atopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies (GWAS) have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date (discovery N = 1,086,394, replication N = 3,604,027), combining previously reported cohorts with additional available data. We identified 81 loci (29 novel) in the European-only analysis (which all replicated in a separate European analysis) and 10 additional loci in the multi-ancestry analysis (3 novel). Eight variants from the multi-ancestry analysis replicated in at least one of the populations tested (European, Latino or African), while two may be specific to individuals of Japanese ancestry. AD loci showed enrichment for DNAse I... (More)
Atopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies (GWAS) have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date (discovery N = 1,086,394, replication N = 3,604,027), combining previously reported cohorts with additional available data. We identified 81 loci (29 novel) in the European-only analysis (which all replicated in a separate European analysis) and 10 additional loci in the multi-ancestry analysis (3 novel). Eight variants from the multi-ancestry analysis replicated in at least one of the populations tested (European, Latino or African), while two may be specific to individuals of Japanese ancestry. AD loci showed enrichment for DNAse I hypersensitivity and eQTL associations in blood. At each locus we prioritised candidate genes by integrating multi-omic data. The implicated genes are predominantly in immune pathways of relevance to atopic inflammation and some offer drug repurposing opportunities. (Less)
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organization
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type
Contribution to journal
publication status
published
subject
keywords
Black People, Dermatitis, Atopic, Genetic Predisposition to Disease, Genome-Wide Association Study, Hispanic or Latino, Humans, Polymorphism, Single Nucleotide, ancestry, DNA, drug, gene, immune response, meta-analysis, skin disorder, atopic dermatitis, Black person, genetic predisposition, genetics, genome-wide association study, Hispanic, human, meta analysis, single nucleotide polymorphism
in
Nature Communications
volume
14
issue
1
article number
6172
publisher
Nature Publishing Group
external identifiers
  • scopus:85173731134
  • pmid:37794016
ISSN
2041-1723
DOI
10.1038/s41467-023-41180-2
language
English
LU publication?
yes
id
a99aa07a-d55e-4f10-bdc4-8b3954104fd1
date added to LUP
2024-01-16 14:23:57
date last changed
2024-05-15 01:18:13
@article{a99aa07a-d55e-4f10-bdc4-8b3954104fd1,
  abstract     = {{Atopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies (GWAS) have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date (discovery N = 1,086,394, replication N = 3,604,027), combining previously reported cohorts with additional available data. We identified 81 loci (29 novel) in the European-only analysis (which all replicated in a separate European analysis) and 10 additional loci in the multi-ancestry analysis (3 novel). Eight variants from the multi-ancestry analysis replicated in at least one of the populations tested (European, Latino or African), while two may be specific to individuals of Japanese ancestry. AD loci showed enrichment for DNAse I hypersensitivity and eQTL associations in blood. At each locus we prioritised candidate genes by integrating multi-omic data. The implicated genes are predominantly in immune pathways of relevance to atopic inflammation and some offer drug repurposing opportunities.}},
  author       = {{Budu-Aggrey, A. and Fadista, J. and Standl, M. and Paternoster, L.}},
  issn         = {{2041-1723}},
  keywords     = {{Black People; Dermatitis, Atopic; Genetic Predisposition to Disease; Genome-Wide Association Study; Hispanic or Latino; Humans; Polymorphism, Single Nucleotide; ancestry; DNA; drug; gene; immune response; meta-analysis; skin disorder; atopic dermatitis; Black person; genetic predisposition; genetics; genome-wide association study; Hispanic; human; meta analysis; single nucleotide polymorphism}},
  language     = {{eng}},
  number       = {{1}},
  publisher    = {{Nature Publishing Group}},
  series       = {{Nature Communications}},
  title        = {{European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation}},
  url          = {{http://dx.doi.org/10.1038/s41467-023-41180-2}},
  doi          = {{10.1038/s41467-023-41180-2}},
  volume       = {{14}},
  year         = {{2023}},
}