Molecular signatures define alopecia areata subtypes and transcriptional biomarkers.
Alopecia areata (AA) is an autoimmune disease typified by nonscarring hair loss with a variable clinical course. In this study, we conducted whole genome gene expression analysis of 96 human scalp skin biopsy specimens from AA or normal control subjects. Based on gene expression profiling, samples formed distinct clusters based on the presence or absence of disease as well as disease phenotype (patchy disease compared with alopecia totalis or universalis). Differential gene expression analysis allowed us to robustly demonstrate graded immune activity in samples of increasing phenotypic severity and generate a quantitative gene expression scoring system that classified samples based on interferon and cytotoxic T lymphocyte immune signatures critical for disease pathogenesis.
Department of Dermatology, Columbia University, New York, NY, USA.
Ali
A
Jabbari
Department of Dermatology, Columbia University, New York, NY, USA.
Jane E
JE
Cerise
Department of Dermatology, Columbia University, New York, NY, USA; Department of Systems Biology, Columbia University, New York, USA.
James C
JC
Chen
Department of Dermatology, Columbia University, New York, NY, USA.
Julian
J
Mackay-Wiggan
Department of Dermatology, M.D. Anderson Cancer Center, Houston, TX, USA.
Madeleine
M
Duvic
Department of Dermatology, UCSF, San Francisco, CA, USA.
Vera
V
Price
Department of Dermatology, University of Minnesota, Minneapolis, MN, USA.
Maria
M
Hordinsky
Department of Dermatology, University of Colorado, Denver, CO, USA.
David
D
Norris
Department of Dermatology, Columbia University, New York, NY, USA.
Raphael
R
Clynes
Department of Dermatology, Columbia University, New York, NY, USA; Department of Genetics & Development, Columbia University, New York, NY, USA.
Angela M
AM
Christiano
D000506:Alopecia Areata / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D030541:Databases, Genetic; D020869:Gene Expression Profiling / Q000379:methods*; D005786:Gene Expression Regulation; D005819:Genetic Markers / Q000276:immunology*; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D025341:Principal Component Analysis
D005819:Genetic Markers
Alopecia areata; Autoimmune; Biomarkers