Investigating the Link Between Genes and Atopic Dermatitis
Atopic dermatitis (AD), a common skin condition affecting millions worldwide, is seeing a significant shift in its management with the advancement of genetic testing and personalized treatment strategies.
Research has identified mutations in genes such as FLG and filaggrin as contributing factors to AD's skin barrier disruption. Moreover, immune-related genes may play a role, particularly those encoding proteins involved in fighting off infections (1).
Recent studies have focused on understanding the genetic components of AD, which could impact treatment, screening, and prevention of the condition. For instance, researchers are screening infants for mutations associated with AD to help prevent the condition and its associated diseases (2).
The Food and Drug Administration (FDA) has approved several new treatments for AD, including dupilumab (Dupixent), tralokinumab (Adbry), upadacitinib (Rinvoq), and abrocitinib (Cibinqo) (3). However, genetic testing may change in the future as researchers better understand the genetics of AD and its implications for treatment.
Commercial at-home genetic testing kits are available, checking for allergies and allergic diseases such as AD. While these tests can provide insights, it's crucial to discuss their results and implications with a healthcare professional (4).
One of the most exciting developments in AD genetics is the use of proteomic and transcriptomic analyses. A 2025 European cohort study identified 23 proteins significantly linked to AD risk, with five key proteins showing protective effects. This study produced a protein-based score that predicts AD onset more accurately than traditional polygenic risk scores (5).
Ongoing clinical trials are characterizing gene expression profiles and transcriptomic endotypes underlying different AD severities and treatment responses. This work aims to tailor treatments based on molecular phenotypes and better understand the skin's immune and metabolic states in AD patients (6).
These advances indicate that genetic testing for AD is moving beyond simple risk prediction to include biomarker-based early diagnosis, stratification of disease subtypes, and identification of new drug targets. This enables more precise, personalized prevention and treatment strategies that address individual molecular profiles.
However, widespread clinical application of genetic testing for AD is still in development; proteomic and transcriptomic biomarkers are promising but require further validation before routine use. Current standard care is still guided primarily by clinical evaluation, though future precision medicine approaches are emerging rapidly.
In summary, genetic testing for atopic dermatitis is evolving into an integrated, molecularly informed tool that may revolutionize treatment and prevention by enabling early detection, personalized therapy choice, and intervention on novel therapeutic targets identified through proteogenomic studies.
References:
- Genome-wide association study of 2923 plasma proteins identifies 23 proteins associated with atopic dermatitis in the UK Biobank
- Genome-wide association study of atopic dermatitis identifies new susceptibility loci and provides insights into disease mechanisms
- FDA approves new treatments for atopic dermatitis
- Genetic testing for atopic dermatitis: A guide for patients and healthcare professionals
- Proteomic and transcriptomic biomarkers in atopic dermatitis: A review
- Genome-wide pleiotropy studies reveal genetic overlaps between atopic dermatitis and neuropsychiatric disorders
- The shift in atopic dermatitis (AD) management includes the use of genetic testing to identify contributing factors like mutations in FLG and filaggrin, which are entities affecting the skin's barrier.
- As research advances, genetic testing for AD could impact medical-conditions screening and prevention, even extending to infants to help prevent the condition and associated diseases.
- In the realm of health-and-wellness, commercial at-home genetic testing kits offer insights on allergies and diseases like AD, but it's essential to consult a healthcare professional about test results and implications.
- The future of AD genetics lies in proteomic and transcriptomic analyses, with promising findings such as the discovery of 23 proteins significantly linked to AD risk, and the development of personalized treatment strategies based on molecular profiles.
