Genomic analysis and identification of susceptible genes for alopecia areata

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In this study, we have identified a strong candidate region for alopecia areata on chromosome 6, at around HLA-B locus (OR: 3.21). By detailed genetic analysis of this region using microsatellite markers and SNPs, we could successfully narrow the region to 2 megabase interval (Haida Y, Ikeda S, et al: An association study of Alopecia Areata within the HLA region using microsatellite markers. Immunogenetics, 2013; 65: 553-7.）. We further sequenced this 2 megabase region on 50 alopecia areata cases, and identified a strongly associated haplotype for alopecia areata (OR: 3.75). Moreover, in this region, we have identified multiple mutations and/or polymorphisms in the exons and introns of a gene, that frequently resulted in the formation of stop codon mutations and truncation of gene products. These results indicated that this gene could be a strong susceptible gene for alopecia areata. We are now producing gene modified mice for this gene, and also examining the expression of this candidate gene on the alopecia areata patients’ skin.