Unveiling the Genetic Code of Clear Skin

Alixandria Schwyter
March 6, 2024

Acne, a pervasive dermatological concern, affects individuals worldwide, transcending age and gender boundaries. In this educational exploration, we delve into the multifaceted world of acne, dissecting its pathogenesis, epidemiological relevance, and the profound impact it can have on an individual's quality of life.

Understanding Acne: A Complex Dermatological Conundrum

Acne, characterized by the inflammation of the pilosebaceous unit, presents a chronic pattern with distinct hallmarks. Disturbances in sebum production, hormonal regulation, follicular hyperkeratinization, inflammatory response, and altered innate and adaptive responses contribute to the complex tapestry of acne pathogenesis. From the formation of microcomedones to the potential development of scars, the journey of acne lesions is influenced by a combination of genetic and environmental factors.

Epidemiology and Relevance:

Dermatological conditions, a broad spectrum of clinical manifestations, affect a significant portion of the global population. In the United States alone, skin diseases accounted for $75 billion in healthcare costs in 20132,3. Acne, among the most prevalent dermatological disorders, impacts 9.4% of the population worldwide1. Understanding the epidemiological landscape provides essential context for the challenges posed by acne, both in terms of healthcare burdens and individual well-being.

Genetic Factors in Acne Pathogenesis:

Recent studies have shed light on the influence of genetic variations in acne susceptibility and severity. Specific genomic markers associated with inflammation, cell adhesion, and immune response emerge as key players in understanding the biological processes shaping acne development. As we explore these genetic intricacies, it becomes evident that genetic factors significantly influence the presence and severity of acne lesions.

Clinical Classification and Treatment Approaches:

The clinical classification of acne, ranging from comedonal to severe nodulocystic, guides treatment strategies that include topical agents, oral retinoids, and various therapeutic approaches. However, the response to treatment is diverse, demanding a flexible and personalized approach to address the unique needs of each patient.

Fagron Genomics’ AcneTestTM: Personalizing the Approach

In the realm of personalized medicine, AcneTestTM emerges as a transformative tool. By analyzing 180 genetic variants associated with acne, this innovative test provides healthcare professionals with unparalleled insights into each patient's genetic makeup. This valuable information guides the selection of personalized treatments, optimizing outcomes and minimizing the burden on individuals struggling with acne.

In the ever-evolving landscape of dermatological care, AcneTestTM emerges as a beacon of precision and personalization. By decoding the genetic intricacies of acne, this advanced tool empowers healthcare professionals to tailor treatments, ensuring a more targeted and effective approach. In the realm of dermatology, where every patient is unique, AcneTestTM stands as a testament to the transformative potential of genetic insights in crafting a clearer, brighter future for those struggling with acne.

Interested in learning more about AcneTestTM? Join our free webinar next week at 12pm CT March 13th for more information and for a discussion on compounding for acne!  

Fagron Genomics, Acne Test Webinar (fagronacademy.us)  

  1. Heng, A. H. S. & Chew, F. T. Systematic review of the epidemiology of acne vulgaris. Sci. Rep. 10, 5754 (2020)
  1. Richard, M. A. et al. Prevalence of most common skin diseases in Europe: a population‐based study. J. Eur. Acad. Dermatology Venereol. 36, 1088–1096 (2022).
  1. Lim, H. W. et al. A risk adjustment approach to estimating the burden of skin disease in the United States. J. Am. Acad. Dermatol. 78, 129–140 (2018).

Decoding Acne Through the Lens of Genomics

Acne, a common skin condition affecting millions, has roots that run deeper than surface-level blemishes. Genetics plays a pivotal role in how our skin reacts and responds to various factors, offering a unique lens through which we can understand and address acne. In this exploration, we shine a spotlight on five key genes, each contributing its unique chapter to the intricate narrative of acne.

IL-1B (Interleukin-1 Beta):

At the forefront of our genomic saga is IL-1B, a crucial player in initiating inflammation. The genetic variations within IL-1B, specifically the polymorphism rs16944, dictate the secretion levels of this interleukin. Elevated IL-1B secretion correlates with heightened inflammation, offering insights into the pathogenesis of acne.

FST (Follistatin):

Move a little deeper into the genomic landscape, and FST takes the stage. Governing the levels and function of TGF-β, FST, influenced by the rs38055 polymorphism, becomes a regulator of inflammation and sebum control. Genetic variations in FST contribute to impaired TGF-β-related inflammation control and increased sebum production, intricately shaping the acne narrative.

TGF-β2 (Transforming Growth Factor Beta 2):

Turning the pages to TGF-β2, the genetic variations encapsulated in rs1159268 unfold a tale of inflammation and cell proliferation. An increase in TGF-β2 levels, as dictated by these variations, paves the way for exacerbated inflammation and a predisposition to acne. The genetic script of TGF-β2 sheds light on the underlying processes influencing acne severity.

OVOL1 (Ovo Like Transcriptional Repressor 1):

OVOL1, a transcription factor shaping the differentiation of keratinocytes, enters our genomic narrative with the rs478304 polymorphism. The genetic variations within OVOL1 lead to hyperproliferation of keratinocytes, an event intricately linked to altered sebaceous gland function. Understanding OVOL1's role provides a genetic lens into the skin predisposition to acne.

RXR (Retinoid X Receptor):

Transitioning to the hormonal aspects of acne, RXR takes center stage. The variations within RXR, specifically rs283696, rs10918169, and rs2651860, unravel a connection to familial hyperlipidemia related to retinoid receptors. This gene provides a genomic link between hormonal factors and acne, guiding us to comprehend the broader hormonal landscape influencing skin health.

In this genomic exploration, personalized insights are paramount. Enter AcneTestTM, a precision-driven tool analyzing 60 SNPs with the highest quality standards. Developed by experts, it integrates patient history for enhanced precision, offering hope for personalized acne management amid ongoing genomic advancements. The journey continues, unlocking potential for clearer, healthier skin through individualized approaches.

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Alixandria Schwyter

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