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欧洲和多民族全基因组关联荟萃分析特应性皮炎强调了系统性免疫调节的重要性。

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

机构信息

Medical Research Council Integrative Epidemiology Unit, Bristol Medical School, University of Bristol, Bristol, England.

Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, England.

出版信息

Nat Commun. 2023 Oct 4;14(1):6172. doi: 10.1038/s41467-023-41180-2.

DOI:10.1038/s41467-023-41180-2
PMID:37794016
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10550990/
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.

摘要

特应性皮炎（AD）是一种常见的炎症性皮肤病，先前的全基因组关联研究（GWAS）已经确定了 71 个相关位点。在目前的研究中，我们进行了迄今为止最大的 AD GWAS（发现 N=1,086,394，复制 N=3,604,027），将以前报告的队列与其他可用数据相结合。我们在仅欧洲人群的分析中确定了 81 个位点（29 个新的）（所有这些位点在单独的欧洲分析中都得到了复制），在多血统分析中确定了另外 10 个位点（3 个新的）。多血统分析中的 8 个变体至少在测试的一个人群（欧洲、拉丁裔或非洲）中得到了复制，而另外两个可能只存在于日本血统的个体中。AD 位点在血液中的 DNAse I 超敏反应和 eQTL 关联中表现出富集。在每个位点，我们通过整合多组学数据来确定候选基因的优先级。所涉及的基因主要是与特应性炎症相关的免疫途径中的基因，其中一些为药物再利用提供了机会。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9979/10550990/a65cc9fed3e0/41467_2023_41180_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9979/10550990/d4af4044ff51/41467_2023_41180_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9979/10550990/059e816ba7f8/41467_2023_41180_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9979/10550990/b4abc5281209/41467_2023_41180_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9979/10550990/a65cc9fed3e0/41467_2023_41180_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9979/10550990/d4af4044ff51/41467_2023_41180_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9979/10550990/059e816ba7f8/41467_2023_41180_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9979/10550990/b4abc5281209/41467_2023_41180_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9979/10550990/a65cc9fed3e0/41467_2023_41180_Fig4_HTML.jpg

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本文引用的文献

[1]
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Nat Genet. 2023-8

[2]
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Clin Exp Dermatol. 2022-6

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Nat Commun. 2021-11-16

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J Clin Aesthet Dermatol. 2021-3

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