KMID : 0032220230350050367
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Annals of Dermatology 2023 Volume.35 No. 5 p.367 ~ p.373
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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
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Satoshi Koyama
Nagisa Yoshihara Atsushi Takagi Etsuko Komiyama Akira Oka Shigaku Ikeda
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Abstract
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Background : Alopecia areata (AA) is considered complex genetic and tissue-specific autoimmune disease. We recently discovered a nonsynonymous variant in the coiled-coil alpha-helical rod protein 1 (CCHCR1) gene within the AA risk haplotype. And a water avoidance stress test on CCHCR1 knockout mice induced AA-like lesions.
Objective : To investigate the difference clinical findings of AA in patients with the CCHCR1 variant and without.
Methods : We conducted a retrospective analysis of the data from 142 AA patients. Among these patients, 20 (14.1%) had a variant of CCHCR1. We evaluated the sex distribution of the patients, age at onset, distribution of the clinical types, prevalence of a positive family history of AA, prevalence of association of AA with atopic dermatitis, response to steroid therapy, and recurrence rate. We used multivariate logistic regression analysis and Fisher¡¯s exact test for statistical analysis. We also investigate electron microscopic observations of hair samples with the CCHCR1 variant and without.
Results : The results showed a significant correlation between the CCHCR1 variant and the recurrence rate compared with the variant-negative group (p=0.0072). Electron microscopy revealed abnormalities in the hair shaft structure and hair cuticle in patients with the CCHCR1 variant (p=0.00174).
Conclusion : Our results suggest that AA with CCHCR1 variant is clinically characterized by a high recurrence rate and hair morphological abnormality.
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KEYWORD
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Alopecia areata, CCHCR1, Genes, Phenotype
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