ArticleEBioMedicine2020
Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss.
Article in EBioMedicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 36 citations in OpenAlex.
- The CCHCR1-UBAP2L Interaction Promotes UBAP2L Release from P-Bodies for Stress Granule Assembly.International journal of molecular sciences · 2026Article
- Immunopathogenesis and Experimental Models of Alopecia Areata: From Mechanistic Insights to Translational Platforms.Clinical reviews in allergy & immunology · 2026Review
- IL-15 in alopecia areata: the immune tolerance mechanistic insights and translational perspectives.Frontiers in medicine · 2026Review
- 3D nanoprinting of embryo microinjection needles with anti-clogging features.Microsystems & nanoengineering · 2025Article
- Review
- Alopecia Areata: Pathogenesis, Diagnosis, and Therapies.MedComm · 2025Review
- Local Genetic Correlations and Pleiotropy Reveal Shared Genetic Architecture Between COVID-19 Phenotypes and Prostate Cancer in European Populations.Journal of Cancer · 2025Article
- Alopecia Areata: Understanding the Pathophysiology and Advancements in Treatment Modalities.Cureus · 2025Review
- Genetic association between asthma and alopecia areata: A two-sample Mendelian randomization study.Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) · 2024Article
- Deciphering the Complex Immunopathogenesis of Alopecia Areata.International journal of molecular sciences · 2024Review
- Dissecting hair breakage in alopecia areata: the central role of dysregulated cysteine homeostasis.Amino acids · 2024Review
- Clinical Findings, Response to Steroid Treatment, and Recurrence Rate in Alopecia Areata Patients with or without a Nonsynonymous Variant of Coiled-Coil Alpha-Helical Rod Protein 1.Annals of dermatology · 2023Article
- Evaluation of the Involvement of Coiled-coil α-helical Rod Protein 1 (CCHCR1) in Imiquimod-induced Psoriasis Models.Annals of dermatology · 2023Article
- Article
- IL-33 Contributes to the Pathological Changes of Hair Follicles in Psoriasis: A Potential Target for Psoriatic Alopecia.Clinical, cosmetic and investigational dermatology · 2023Article
- CCHCR1-astrin interaction promotes centriole duplication through recruitment of CEP72.BMC biology · 2022Article
- The MCP-1 rs1024611 and MTHFR rs1801133 gene variations and expressions in alopecia areata: A pilot study.Immunity, inflammation and disease · 2022Article
- Alopecia Areata: an Update on Etiopathogenesis, Diagnosis, and Management.Clinical reviews in allergy & immunology · 2021Review
- Article
- Whole-genome sequencing reveals insights into the adaptation of French Charolais cattle to Cuban tropical conditions.Genetics, selection, evolution : GSE · 2021Article
Corrections and comments
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Authors and funding
23 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlopecia areata (AA) is considered a highly heritable, T-cell-mediated autoimmune disease of the hair follicle. However, no convincing susceptibility gene has yet been pinpointed in the major histocompatibility complex (MHC), a genome region known to be associated with AA as compared to other regions.
methodsWe engineered mice carrying AA risk allele identified by haplotype sequencing for the MHC region using allele-specific genome editing with the CRISPR/Cas9 system. Finally, we performed functional evaluations in the mice and AA patients with and without the risk allele.
findingsWe identified a variant (rs142986308, p.Arg587Trp) in the coiled-coil alpha-helical rod protein 1 (CCHCR1) gene as the only non-synonymous variant in the AA risk haplotype. Furthermore, mice engineered to carry the risk allele displayed a hair loss phenotype. Transcriptomics further identified CCHCR1 as a novel component interacting with hair cortex keratin in hair shafts. Both, these alopecic mice and AA patients with the risk allele displayed morphologically impaired hair and comparable differential expression of hair-related genes, including hair keratin and keratin-associated proteins (KRTAPs).
interpretationOur results implicate CCHCR1 with the risk allele in a previously unidentified subtype of AA based on aberrant keratinization in addition to autoimmune events.
fundingThis work was supported by JSPS KAKENHI (JP16K10177) and the NIHR UCLH Biomedical Research center (BRC84/CN/SB/5984).
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