Integrative Analysis of Rare Copy Number Variants and Gene Expression Data in Alopecia Areata Implicates an Etiological Role for Autophagy

June 2019 in “ Experimental Dermatology ”

Lynn Petukhova, Anjni Patel, Rachel K. Rigo, Li Bian, Miguel Verbitsky, Simone Sanna‐Cherchi, S. Erjavec, A.R. Abdelaziz, Jane E. Cerise, Ali Jabbari, Angela M. Christiano

alopecia areata autophagy copy number variants CNVs gene expression ATG4B SMARCA2 chromatin remodeling hair follicle biology AA

Studysummary This study identified 14 genes affected by copy number variants that may contribute to alopecia areata, including four genes notably involved in autophagy and chromatin remodeling.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

In the 2019 study, researchers analyzed genetic data from 758 alopecia areata (AA) patients and 17,769 controls to explore the genetic basis of AA. They found an excess of rare, large, gene-disrupting copy number variants (CNVs) in AA patients compared to controls. By integrating CNV data with gene expression profiles, they identified 35 genes affected by CNVs that were also altered in AA gene expression signatures. Notably, genes such as ATG4B, involved in autophagy, and SMARCA2, involved in chromatin remodeling, were implicated in multiple AA patients, suggesting their role in AA pathogenesis. Immunofluorescence analysis supported the involvement of these genes in hair follicle biology. The study indicates that rare CNVs may contribute to AA's genetic architecture and highlights autophagy as a potential pathway in the disease's etiology.

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