TLDR The research suggests that autophagy-related genes might play a role in causing alopecia areata.
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.
222 citations,
September 2016 in “JCI insight” Tofacitinib is safe and effective for severe alopecia areata, but hair loss may return 2 months after stopping treatment.
196 citations,
September 2016 in “JCI insight” Ruxolitinib effectively regrows hair in most patients with severe hair loss.
64 citations,
July 2016 in “Journal of Immunology” Blocking the CXCR3 receptor reduces T cell accumulation in the skin and prevents hair loss in mice.
70 citations,
April 2016 in “Experimental Dermatology” A patient with alopecia areata regrew hair after taking tofacitinib and showed changes in certain blood and skin markers.
701 citations,
August 2014 in “Nature medicine” Alopecia areata can be reversed by JAK inhibitors, promoting hair regrowth.
717 citations,
June 2010 in “Nature” Alopecia areata involves both innate and adaptive immunity, with specific genes linked to the disease.
143 citations,
January 2007 in “The American Journal of Human Genetics” Certain genes on chromosomes 6, 10, 16, and 18 may increase the risk of alopecia areata.
148 citations,
December 2018 in “Journal of autoimmunity” Alopecia areata is an autoimmune disease causing patchy hair loss, often with other autoimmune disorders, but its exact causes are unknown.
4 citations,
November 2018 in “JAAD case reports” Alopecia areata can sometimes appear as a straight line of hair loss instead of round patches.
May 2018 in “Journal of cosmetology & trichology” Combining platelet-rich plasma therapy with prostaglandin-F eye drops can significantly regrow hair in alopecia universalis.
