752 The relationship between CCHCR1 variant and alopecia areata

Alopecia areata (AA) is a highly heritable multi-factorial and complex disease. We have recently identified variant in the coiled-coil alpha-helical rod protein 1 (CCHCR1) gene as only non synonymous AA risk haplotype. In addition, we established cchcr1 knock out (KO) mouse by Cre/loxP system model. Using model mice made it enable to investigate effect of CCHCR1. The purpose this study compare difference clinical findings patients with CCHCR1 without. A second analyze on steroidogenesis autophagy. divided 142 into two group; without variant. evaluated sex distribution patients, age at onset, types, prevalence positive family history AA, association atopic dermatitis, response steroid therapy, recurrence rate. autophagy was immunohistochemistry Western blot for skin KO mice. used steroidogenic acute regulator (StAR) P450scc enzyme which known an activator marker steroidogenesis, LC3 p62 results showed significant correlation between rate compared variant-negative group (P = 0.0072). tended therapy. reduction revel StAR control At same time, that function decreased. Our result suggests clinically characterized high can reduce steroidogenesis. Although systemic therapy should be caution, may option who often relapse.