ArticleNature communications2022
Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82.
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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Who cites it
18 citing papers in PubMed, 31 citations in OpenAlex.
- Pathogenic CD8+ T cells target K71+ Henle's layer by forming cytolytic immune synapses in Alopecia Areata.Research square · 2026Article
- Stress-induced sympathetic hyperactivation drives hair follicle necrosis to trigger autoimmunity.Cell · 2026Article
- Genetic syndromes in paediatric alopecia areata: a systematic review.Skin health and disease · 2025Review
- The molecular puzzle of autoinflammatory skin diseases-a review of chosen conditions.Journal of applied genetics · 2025Review
- Screening of Protein Related to Wool Development and Fineness in Gansu Alpine Fine-Wool Sheep.Animals : an open access journal from MDPI · 2025Article
- Proteins from Stressed Mesenchymal Stem Cells Can Repair Hair Follicles and Promote Hair Regeneration.ACS pharmacology & translational science · 2025Article
- Evaluating the Causal Relationship Between Human Blood Metabolites and the Susceptibility to Alopecia Areata.Journal of cosmetic dermatology · 2025Article
- Alopecia Areata: Understanding the Pathophysiology and Advancements in Treatment Modalities.Cureus · 2025Review
- Dissecting hair breakage in alopecia areata: the central role of dysregulated cysteine homeostasis.Amino acids · 2024Review
- Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits.BMC genomics · 2024Article
- A scATAC-seq atlas of stasis zone in rat skin burn injury wound process.Frontiers in cell and developmental biology · 2024Article
- Pathogenesis and regenerative therapy in vitiligo and alopecia areata: focus on hair follicle.Frontiers in medicine · 2024Review
- Alopecia Areata: A Review of the Genetic Variants and Immunodeficiency Disorders Associated with Alopecia Areata.Skin appendage disorders · 2023Review
- Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases.Nature genetics · 2023Article
- Review
- Recent advances in the genetics of alopecia areata.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- Novel potential therapeutic targets of alopecia areata.Frontiers in immunology · 2023Review
- A Comprehensive Overview on Alopecia Areata with Review on Advances in Genetics and Treatment.Indian journal of dermatologyReview
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
Alopecia areata is a complex genetic disease that results in hair loss due to the autoimmune-mediated attack of the hair follicle. We previously defined a role for both rare and common variants in our earlier GWAS and linkage studies. Here, we identify rare variants contributing to Alopecia Areata using a whole exome sequencing and gene-level burden analyses approach on 849 Alopecia Areata patients compared to 15,640 controls. KRT82 is identified as an Alopecia Areata risk gene with rare damaging variants in 51 heterozygous Alopecia Areata individuals (6.01%), achieving genome-wide significance (p = 2.18E-07). KRT82 encodes a hair-specific type II keratin that is exclusively expressed in the hair shaft cuticle during anagen phase, and its expression is decreased in Alopecia Areata patient skin and hair follicles. Finally, we find that cases with an identified damaging KRT82 variant and reduced KRT82 expression have elevated perifollicular CD8 infiltrates. In this work, we utilize whole exome sequencing to successfully identify a significant Alopecia Areata disease-relevant gene, KRT82, and reveal a proposed mechanism for rare variant predisposition leading to disrupted hair shaft integrity.
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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.