Ann Dermatol.  2023 Oct;35(5):367-373. 10.5021/ad.22.227.

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

• Koyama S
• Yoshihara N
• Takagi A
• Komiyama E
• Oka A
• Ikeda S

• KMID: 2546615
• DOI: http://doi.org/10.5021/ad.22.227

Abstract

Background
Alopecia areata (AA) is considered complex genetic and tissue-specific autoimmune disease. We recently discovered a nonsynonymous variant in the coiled-coil alphahelical 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.

Keyword

Alopecia areata; CCHCR1; Genes; Phenotype