Recent Advances in the Genetics of Alopecia Areata

April 2023 in “ Medizinische Genetik ”

F. Buket Basmanav, Regina C. Betz

alopecia areata autoimmune condition hair loss genetic susceptibility loci immune system genes genome-wide association gene expression studies therapeutic approaches AA genetic factors environmental factors

TLDR New research has found 14 genes linked to the risk of developing alopecia areata, improving understanding and treatment options.

Alopecia areata (AA) is an autoimmune condition that leads to hair loss and has a lifetime risk of 2%. It often starts with small, hairless patches and can progress to total body hair loss. The disorder has a genetic component, with a 6-8% recurrence risk in first-degree relatives. It is influenced by both environmental and genetic factors. Recent research has identified 14 genetic susceptibility loci, with many related to immune system genes. The latest genome-wide association, sequencing, and gene expression studies have contributed to understanding AA's genetic basis and have informed new therapeutic approaches.

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Research cited in this study

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research Whole Exome Sequencing in Alopecia Areata Identifies Rare Variants in KRT82

9 citations , February 2022 in “Nature communications”

Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.

research Ritlecitinib And Brepocitinib Demonstrate Significant Improvement In Scalp Alopecia Areata Biomarkers

36 citations , December 2021 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology”

Two drugs, ritlecitinib and brepocitinib, improved scalp hair loss condition markers.

Alopecia Areata Treatment Patterns, Healthcare Resource Utilization, and Comorbidities in the US Population Using Insurance Claims

research Alopecia Areata Treatment Patterns, Healthcare Resource Utilization, and Comorbidities in the US Population Using Insurance Claims

23 citations , July 2021 in “Advances in Therapy”

Most people with Alopecia Areata don't get treatment within a year; it's costly and often comes with other health issues.

Efficacy and Safety of the Oral Janus Kinase Inhibitor Baricitinib in the Treatment of Adults with Alopecia Areata: Phase 2 Results from a Randomized Controlled Study

research Efficacy and Safety of the Oral Janus Kinase Inhibitor Baricitinib in the Treatment of Adults with Alopecia Areata: Phase 2 Results from a Randomized Controlled Study

66 citations , June 2021 in “Journal of The American Academy of Dermatology”

Baricitinib is effective and safe for treating severe alopecia areata.

research A Comprehensive Literature Review of JAK Inhibitors in the Treatment of Alopecia Areata

40 citations , June 2021 in “Clinical, cosmetic and investigational dermatology”

JAK inhibitors show promise in effectively treating hair loss from alopecia areata.

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134 citations , July 2020 in “Experimental dermatology”

Hair follicles are normally protected from the immune system, but when this protection fails, it can cause hair loss in alopecia areata.

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26 citations , May 2020 in “JCI Insight”

Alopecia areata involves specific immune cells, offering potential treatment targets.

research JAK Inhibition in the Treatment of Alopecia Areata: A Promising New Dawn?

29 citations , December 2019 in “Expert review of clinical pharmacology”

JAK inhibitors are a promising new treatment for hair loss and nail problems in alopecia areata.

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20 citations , December 2019 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology”

Blocking IL-12/IL-23 does not help with hair loss in alopecia areata for mice or humans.

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

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

20 citations , June 2019 in “Experimental Dermatology”

The research suggests that autophagy-related genes might play a role in causing alopecia areata.

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research Alopecia Areata Is Characterized by Dysregulation in Systemic Type 17 and Type 2 Cytokines, Which May Contribute to Disease-Associated Psychological Morbidity

57 citations , April 2019 in “British journal of dermatology/British journal of dermatology, Supplement”

Alopecia areata involves immune system imbalances that may lead to depression and anxiety.

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130 citations , February 2019 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology”

JAK inhibitors are effective for treating alopecia areata, with most patients seeing hair growth after treatment.

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56 citations , January 2019 in “Lancet”

JAK inhibitors help regrow hair in alopecia areata patients, improving their quality of life.

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research A Randomized Placebo-Controlled Single-Center Pilot Study of the Safety and Efficacy of Apremilast in Subjects with Moderate-to-Severe Alopecia Areata

42 citations , November 2018 in “Archives of dermatological research”

Apremilast was not effective in treating moderate-to-severe alopecia areata.

research Dermatological Aspects of the S2k Guidelines on Down Syndrome in Childhood and Adolescence

10 citations , October 2018 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft”

Most skin conditions in Down syndrome are benign and involve dry or thickened skin.

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58 citations , July 2018 in “Journal of Allergy and Clinical Immunology”

Alopecia areata severity is linked to increased TH1 and TH2 activity.

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research An Open-Label Pilot Study to Evaluate the Efficacy of Tofacitinib in Moderate to Severe Patch-Type Alopecia Areata, Totalis, and Universalis

130 citations , February 2018 in “Journal of Investigative Dermatology”

Tofacitinib may help treat severe hair loss, but more research is needed.

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9 citations , December 2017 in “The Journal of Allergy and Clinical Immunology”

New targeted therapies for hair loss from alopecia areata show promise, with personalized treatment expected in the future.

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102 citations , December 2017 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings”

Restoring hair bulb immune privilege is crucial for managing alopecia areata.

research Safety and Efficacy of the JAK Inhibitor Tofacitinib Citrate in Patients with Alopecia Areata

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.

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196 citations , September 2016 in “JCI insight”

Ruxolitinib effectively regrows hair in most patients with severe hair loss.

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29 citations , June 2016 in “Experimental Dermatology”

MCHR2 gene duplications may be linked to alopecia areata.

research Familial Aggregation of Alopecia Areata

295 citations , May 2016 in “Journal of the American Academy of Dermatology”

Alopecia areata, a common autoimmune hair loss condition, often runs in families.

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15 citations , May 2016 in “Archives of Dermatological Research”

ULBP3 could be a marker for diagnosing alopecia areata incognita and may be linked to its cause and development.

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65 citations , December 2015 in “Experimental dermatology”

Corticosteroid treatment reduces inflammation and alters hair keratins in alopecia areata.

research Alopecia Areata Profiling Shows TH1, TH2, and IL-23 Cytokine Activation Without Parallel TH17/TH22 Skewing

176 citations , August 2015 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology”

Alopecia areata involves immune activation in the scalp, suggesting treatments targeting TH1, TH2, and IL-23 pathways.

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701 citations , August 2014 in “Nature medicine”

Alopecia areata can be reversed by JAK inhibitors, promoting hair regrowth.

research Exomic Sequencing of Immune-Related Genes Reveals Novel Candidate Variants Associated with Alopecia Universalis

18 citations , January 2013 in “PLoS ONE”

HLA-DRB5 and other genes may be linked to alopecia universalis.

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26 citations , December 2011 in “Journal of Investigative Dermatology”

New gene identification techniques have improved the understanding and classification of inherited hair disorders.

Transcriptional Profiling in Alopecia Areata Defines Immune and Cell Cycle Control Related Genes Within Disease-Specific Signatures

research Transcriptional Profiling in Alopecia Areata Defines Immune and Cell Cycle Control Related Genes Within Disease-Specific Signatures

61 citations , September 2010 in “Genomics”

The study found that immune responses disrupt hair growth cycles, causing hair loss in alopecia areata.

research Genome-Wide Association Study in Alopecia Areata Implicates Both Innate and Adaptive Immunity

717 citations , June 2010 in “Nature”

Alopecia areata involves both innate and adaptive immunity, with specific genes linked to the disease.

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253 citations , December 2007 in “Journal of Investigative Dermatology”

Hair follicles prevent NK cell attacks to avoid hair loss.

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138 citations , March 2007 in “Experimental cell research”

Only a few hair-specific keratins are linked to inherited hair disorders.

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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.

research Autoimmunity: Alopecia Areata

143 citations , January 2004 in “Journal of Investigative Dermatology Symposium Proceedings”

Alopecia areata is an autoimmune disease causing hair loss, treatable with immune-modulating drugs, and linked to genetics.

research Gene Array Profiling and Immunomodulation Studies Define a Cell-Mediated Immune Response Underlying the Pathogenesis of Alopecia Areata in a Mouse Model and Humans

114 citations , August 2002 in “Journal of Investigative Dermatology”

Alopecia areata is caused by an immune response, and targeting immune cells might help treat it.

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research Recent Advances in the Genetics of Alopecia Areata

April 2023 in “Medizinische Genetik”

New research has found 14 genes linked to the risk of developing alopecia areata, improving understanding and treatment options.

research Diagnosis and Management of the Hair Loss Patient

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Most hair loss cases are caused by four main conditions, and understanding them is key to treatment.

research PUVA Therapy for Alopecia Areata

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PUVA-therapy is not very effective for severe hair loss types like alopecia totalis or universalis.