Integrative analysis of rare copy number variants and gene expression data in alopecia areata implicates an aetiological role for autophagy

Abstract excerpt

Alopecia areata (AA) is a highly prevalent autoimmune disease that attacks the hair follicle and leads to hair loss that can range from small patches to complete loss of scalp and body hair. Our previous linkage and genome-wide association studies (GWAS) generated strong evidence for aetiological contributions from inherited genetic variants at different population frequencies, including both rare mutations and...

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