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Genetic Theory

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One of the more popular theories on the cause of rosacea is the genetic theory. "A primary genetic cause for rosacea is suggested as single genes often control such mediators: enzymes, neuroendocrine transmitters, and cytokines are found in pathways to rosacea signs and symptoms. Currently, neither a specific cause nor a laboratory indicator of rosacea has been suggested." [1]

The number one reason why the genetic theory persists is that rosacea does indeed tend to run in families. As Dr. Bernstein says about the cause, "it's probably some kind of combination of genetic and environmental factors" and "No specific rosacea-causing genes have been identified, but the condition tends to run in families — and almost always among those with fair skin."

The genetic theory usually comes up when discussing the cause in just about every discussion.

However, recent thought on this subject is that while rosacea may be genetic the evidence seems to point to the environmental factors. For instance, notice what this article concluded regarding this subject:

"The epidemiological data have always indicated that Western diseases are determined overwhelmingly by diet and other non-genetic factors. Similarly, clinical data have frequently shown that many diseases can be reversed or accelerated by diet and other lifestyle choices. The crucial importance of the new genomic findings is therefore to show that genetic research does not after all contradict these environmental explanations of disease. Rather, it now very strongly supports them." [2]

"Data regarding the inheritance of rosacea are scarce. Patients with rosacea have a markedly increased tendency to exhibit a positive family history than do control groups. Furthermore, owing to its higher prevalence among Northern Europeans, a genetic predisposition toward developing rosacea has been hypothesized; however, the specific genes related to this association have not yet been identified." [3]

"This cohort study also indicated that approximately half of the factors affecting the pathophysiology of rosacea were genetic, whereas the remainders were environmental, such as smoking, alcohol consumption, skin cancer history, and age." [3[

"Collectively, the gene variants identified in this study support the concept of a genetic component for rosacea, and provide candidate targets for future studies to better understand and treat rosacea." [4]

"Nevertheless, the potential genetic basis of this common, disfiguring yet incurable condition is not known. Evidence for a genetic component to rosacea has been hypothesized, with a retrospective study showing that rosacea patients have a greater than fourfold increased odds of having a family member with rosacea (Abram et al., 2010; Steinhoff et al., 2013), but the genes leading to this association are not known. This current study explores genes that associate with rosacea in a large population of individuals of European descent by genome-wide association study." [4]

An interesting Medscape video lecture by Dr. Gallo, New Insights Into the Science of Treating Rosacea, which relates to this theory since the innate immune system and cathelicidin (LL-37) is discussed.

"Data regarding the inheritance of rosacea are scarce. Patients with rosacea have a markedly increased tendency to exhibit a positive family history than do control groups. Furthermore, owing to its higher prevalence among Northern Europeans, a genetic predisposition toward developing rosacea has been hypothesized; however, the specific genes related to this association have not yet been identified." [5]

"Our current hypothesis is that a genetic predisposition, together with trigger factors, leads to the clinical occurrence of transient flushing, which may be because of overstimulation of the sensory and/or autonomic nervous system in the skin and induction of innate immune responses. The concrete relationship between the skin nervous system and the innate immune system is still unclear." [6] 

While the genetic theory makes us feel like we can't do anything about it the environmental evidence suggests we can do something about it. This theory will no doubt continue to be studied and researched.

End Notes

[1] Rosacea: current thoughts on origin., Bamford JT., Semin Cutan Med Surg. 2001 Sep;20(3):199-206.

[2] The Causes Of Common Diseases Are Not Genetic Concludes A New Analysis, Medical News Today, 07 Dec 2010

[3] Int J Mol Sci. 2016 Sep; 17(9): 1562.
Published online 2016 Sep 15. doi:  10.3390/ijms17091562, PMCID: PMC5037831
Rosacea: Molecular Mechanisms and Management of a Chronic Cutaneous Inflammatory Condition
Yu Ri Woo, Ji Hong Lim, Dae Ho Cho, and Hyun Jeong Park,

[4] J Invest Dermatol. 2015 Jun; 135(6): 1548–1555.
Published online 2015 Mar 12. Prepublished online 2015 Feb 19. doi:  10.1038/jid.2015.53, PMCID: PMC4434179
Assessment of the Genetic Basis of Rosacea by Genome-Wide Association Study
Anne Lynn S Chang, Inbar Raber, Jin Xu, Rui Li, Robert Spitale, Julia Chen, Amy K Kiefer, Chao Tian, Nicholas K Eriksson, David A Hinds, and Joyce Y Tung

[5] Int J Mol Sci. 2016 Sep; 17(9): 1562.
Published online 2016 Sep 15. doi:  10.3390/ijms17091562, PMCID: PMC5037831
Rosacea: Molecular Mechanisms and Management of a Chronic Cutaneous Inflammatory Condition
Yu Ri Woo, Ji Hong Lim, Dae Ho Cho, and Hyun Jeong Park, Chris Jackson, Academic Editor

[6] J Investig Dermatol Symp Proc. Author manuscript; available in PMC 2013 Jul 8.
Published in final edited form as:
J Investig Dermatol Symp Proc. 2011 Dec; 15(1): 2–11.
doi:  10.1038/jidsymp.2011.7
PMCID: PMC3704130
NIHMSID: NIHMS479650
Clinical, Cellular, and Molecular Aspects in the Pathophysiology of Rosacea
Martin Steinhoff, Jörg Buddenkotte, Jerome Aubert, Mathias Sulk, Pawel Novak, Verena D. Schwab, Christian Mess, Ferda Cevikbas, Michel Rivier, Isabelle Carlavan, Sophie Déret, Carine Rosignoli, Dieter Metze, Thomas A. Luger, and Johannes J. Voegel

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