ArticleExperimental dermatology2020
Integrative analysis of rare copy number variants and gene expression data in alopecia areata implicates an aetiological role for autophagy.
Article in Experimental dermatology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure.Briefings in bioinformatics · 2022Pooled it
- Article
- Evaluating the Causal Relationship Between Human Blood Metabolites and the Susceptibility to Alopecia Areata.Journal of cosmetic dermatology · 2025Article
- Association between SQSTM1 dysregulation and risk in alopecia areata: a Mendelian randomization study.Frontiers in immunology · 2025Article
- Review
- Immune-Molecular Link between Thyroid and Skin Autoimmune Diseases: A Narrative Review.Journal of clinical medicine · 2024Review
- Association Between Natural Hair Color, Race, and Alopecia.Dermatology and therapy · 2024Article
- Mechanisms of autophagy and their implications in dermatological disorders.Frontiers in immunology · 2024Review
- The multifaceted role of autophagy in skin autoimmune disorders: a guardian or culprit?Frontiers in immunology · 2024Review
- Autophagy Dysfunction: The Kernel of Hair Loss?Clinical, cosmetic and investigational dermatology · 2024Review
- Alopecia Areata: A Review of the Genetic Variants and Immunodeficiency Disorders Associated with Alopecia Areata.Skin appendage disorders · 2023Review
- Recent advances in the genetics of alopecia areata.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- Oxidative stress and alopecia areata.Frontiers in medicine · 2023Review
- Impaired autophagy promotes hair loss in the C3H/HeJ mouse model of alopecia areata.Autophagy · 2023Article
- Alopecia Areata: Burden of Disease, Approach to Treatment, and Current Unmet Needs.Clinical, cosmetic and investigational dermatology · 2023Review
- Review
- Autophagy: Guardian of Skin Barrier.Biomedicines · 2022Review
- Regulation and dysregulation of hair regeneration: aiming for clinical application.Cell regeneration (London, England) · 2022Review
- The Immunogenetics of Alopecia areata.Advances in experimental medicine and biology · 2022Article
- Alopecia Areata: an Update on Etiopathogenesis, Diagnosis, and Management.Clinical reviews in allergy & immunology · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 1 institution in 1 country.
Funding
Abstract
Alopecia areata (AA) is a highly prevalent autoimmune disease that attacks the hair follicle and leads to hair loss that can range from small patches to complete loss of scalp and body hair. Our previous linkage and genome-wide association studies (GWAS) generated strong evidence for aetiological contributions from inherited genetic variants at different population frequencies, including both rare mutations and common polymorphisms. Additionally, we conducted gene expression (GE) studies on scalp biopsies of 96 patients and controls to establish signatures of active disease. In this study, we performed an integrative analysis on these two datasets to test the hypothesis that rare CNVs in patients with AA could be leveraged to identify drivers of disease in our AA GE signatures. We analysed copy number variants (CNVs) in a case-control cohort of 673 patients with AA and 16 311 controls independent of the case-control cohort of 96 research participants used in our GE study. Using an integrative computational analysis, we identified 14 genes whose expression levels were altered by CNVs in a consistent direction of effect, corresponding to gene expression changes in lesional skin of patients. Four of these genes were affected by CNVs in three or more unrelated patients with AA, including ATG4B and SMARCA2, which are involved in autophagy and chromatin remodelling, respectively. Our findings identified new classes of genes with potential contributions to AA pathogenesis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.