Genetic link to Rosacea Cause Gets Closer


In the quest to describe and therefore being able to control rosacea, the list of possible causes has been long and diverse.

Think yourself of all of the possible causes that you yourself have encountered, for eg; demodex mites, excessive sun, alcohol, helicobacter pylori, SIBO, cathelicidin.

Only recently have researchers been able to make progress confirming a genetic link to the expression of rosacea.

A 2006 paper suggested a genetic link with rosacea via reactive oxygen species and 2 genes GSTM1 and  GSTT1.

This Journal of Investigative Dermatology paper has published some new research documenting some candidate targets for future research to better understand the genetic basis for rosacea.

The 2 candidate genes HLA-DRA and BTNL2 were examined and found to be expressed in papules and pustules from six rosacea sufferers, but not in controls.

For those who know their genes HLA-DRA is better known as `Human leukocyte antigen class II histocompatibility antigen, DR alpha chain’, and BTNL2 is known as `butyrophilin-like 2, MHC class I associated’.

The paper tells us that “the presence of HLA-DRA and BTNL2 in rosacea skin suggests potential biologic relevance”.

Rosacea Related to Diabetes and Celiac Disease ?

Once any genetic basis for a condition is identified, interesting and potentially useful links with other diseases might emerge. The paper tells us ;

One of the most interesting findings of this study is the potential connection between rosacea and other human diseases such as diabetes and celiac disease.

As previously mentioned, HLA-DRB1*03:01 is associated with diabetic retinopathy in a Croatian population of type I diabetics (Kastelan et al., 2013).

The connection between rosacea and diabetes merits further study, since rosacea has been reported to associate negatively with diabetics on insulin or oral anti-diabetic drugs in a retrospective study (Spoendlin et al., 2013). This reduction in rosacea could be due to treatment for diabetes with insulin or anti-diabetic drugs.

Early Days

Finding a particular gene responsible for any condition is a long and complicated process. The process of finding a protein that is important to the way that rosacea develops is crucial. Next researchers have to find a gene or gene combination that codes for these proteins and show that the over expression of these proteins is what causes rosacea. The genetic difference in these genes between sufferers and controls can then be the marker we are searching for.

This study is a pointer for future studies that might further confirm or direct these findings.

More Questions

Several questions immediately  spring to mind.

  • What about the other forms of rosacea – are they all caused by the same protein?
  • How many more genes are involved, how are linked?
  • How is the protein expression turned on, what environmental factors affect expression ?
  • Can you turn it off ?
  • What implications are there for heredity ?

Early days for sure, but an encouraging first step.

More Background

This paper is receiving some good coverage across the web. Here are some background comments that help explain the significance of the findings.

Genetic basis of rosacea identified by researchers


The scientists ran two separate experiments to help ensure the results were consistent. The first experiment had 2,618 rosacea patients and 20,334 controls, and the second had 3,205 rosacea patients and 26,262 controls.

The researchers compared the genomes of rosacea patients and controls and looked for differences in the DNA building blocks, called nucleotides, in people diagnosed with rosacea.

Such differences, called single nucleotide polymorphisms, occur when one nucleotide, such as guanine, is substituted for another, such as cytosine. This kind of analysis is called a genome-wide association and, because the entire genome is searched, is an unbiased way to look for genetic links to disease.

Two areas linked to rosacea

Only two areas of the genome were associated with having rosacea, and these two areas were located near genes known for their role in inflammatory and autoimmune diseases such as multiple sclerosis, diabetes, sarcoidosis and inflammatory bowel disease. Single nucleotide polymorphisms located near genes can play a role in regulating that gene — for example, regulating whether the gene is expressed.

Chang described the study as a forward-looking examination of the genetic associations of rosacea. “The next step is to look more into these associations of rosacea with other diseases,” she said, “and explore whether the inflammation in rosacea is a cutaneous sign of risk for other disease.”

Article Abstract

Assessment of the Genetic Basis of Rosacea by Genome-Wide Association Study

J Invest Dermatol. 2015 Feb 19.

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 Tung

Rosacea is a common, chronic skin disease that is currently incurable. Although environmental factors influence rosacea, the genetic basis of rosacea is not established.

In this genome-wide association study, a discovery group of 22,952 individuals (2,618 rosacea cases and 20,334 controls) was analyzed, leading to identification of two significant single nucleotide polymorphisms (SNPs) associated with rosacea, one of which replicated in a new group of 29,481 individuals (3,205 rosacea cases and 26,262 controls).

The confirmed SNP, rs763035 (p=8.0 × 10−11 discovery group; p=0.00031 replication group), is inter-genic between HLA-DRA andBTNL2.

Exploratory immunohistochemical analysis of HLA-DRA and BTNL2 expression in papulopustular rosacea lesions from six individuals, including one with the rs763035 variant, revealed staining in the peri-follicular inflammatory infiltrate of rosacea for both proteins.

In addition, three HLA alleles, all MHC class II proteins, were significantly associated with rosacea in the discovery group and confirmed in the replication group:

  • HLA-DRB1*03:01 (p=1.0 × 10−8 discovery group; p=4.4 × 10−6 replication group),
  • HLA-DQB1*02:01 (p=1.3 × 10−8 discovery group; p=7.2 × 10−6replication group), and
  • HLA-DQA1*05:01 (p=1.4 × 10−8 discovery group; p=7.6 × 10−6 replication group).

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.

(This study was supported by the National Institutes of Health (grant 2R44HG006981) and the National Rosacea Society.)

Your Thoughts

Many rosacea sufferers can see symptoms in their parents, or have a relative that also suffered. Did you have a relative that perhaps suffered unknowingly from rosacea?

Does this finding give you hope that a decent breakthrough might be upon us ?

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About the Author: David Pascoe started the Rosacea Support Group in October 1998. .

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8 Reader Comments

  1. Evie Fishkin says:

    It might be that there is a genetic link for some people, but after the research I have done I am not sure. No one from a few generations down has had rosacea. They are fair skin, and I have olive darker skin, and I recently at age 70 just was dx with it. At first it was a few red spots. It was a few weeks until the big break out and flushing. Since I am fighting stage iv cancer, I think my rosacea was induced by steroids and other meds.

  2. mariemwatson says:

    My mother has it, her sister has it, and there are a few other family members who may have had it (they are deceased). Interestingly, I am Scot-Irish decent but my mother is not. I figured it was my pale Irish skin that made me more susceptible

  3. Paul Blythe says:

    This sounds like progress towards cause rather than the more normal latest mitigation, although I suppose it could have been anticipated, given the relationship with northern Europe / fair skin. It makes more sense that the triggers – mites, sun, food groups, booze etc – are effects and not causes.

    I wonder if this ties back to broader auto-immune issues that are genetically driven. I have, as well as rosacea, hypothyroidism and vitiligo, both of which are auto-immune. All three are in my family. I don’t know whether celiac disease or the diabetes above is auto-immune, but I can’t help but think this is part of a broader issue In this context, I’m not sure the cathelicidin should be on the list in David’s article though, seems more like an intermediate step. Did that work by Dr. Gallo ever go anywhere – looks like it was a decade old?

    • David says:

      Hi Paul,

      I also have Rosacea and Vitiligo, my dad has Celiac disease. I’m fully convinced this is a genetic matter as well. I wonder at what age you were diagnosed with hypothyroidism? I have been tested twice with negative result.

      • Sandra says:

        David, while your TSH levels might test “normal”, you could still suffer from thyroid disease if your other thyroid levels are out of whack. Do some online research on thyroid testing and appropriate levels for T3, T4, RT3, TPO, etc.

  4. Nancy Baroody says:

    In my case I am not convinced it is genetic. I have not been able to find anyone on both side of my family back two generations who had any kind of skin problems. I have a strong suspicion that my rosacea is tied to extreme trauma I suffered as a child and a corresponding development of Hashimoto’s thyroiditis. After seeing a fantastic dermatologist after a bad lingering breakout, I am using a protocol which includes exfoliation with a low free acid gycolic creamy wash along with the french Avene product line (formulated specifically for rosacea) that has successfully kept my rosacea in remission. My next plan is to have IPL laser to eradicate the broken capillaries that show in my skin. I am hoping that it will also reduce the chances for a future flare-up. If you were to meet me today you would hardly know that I ever had rosacea although in the heat I do get some flushing.

    • anitathepianist says:

      Nancy, I just saw your post. I am interested in the skin care products that you use..I also am certain that this condition is not genetic..I am the only person in both sides of the family who
      has this condition..It developed after an stressful pregnancy and difficult child birth. It has blighted my life and made me uncomfortable thousands of times…You can contact me at:

  5. I am convinced that rosacea (at least with me) is caused by demodex mites.

    An article I found on line ( ) suggested that a zinc oxide cream with sulphur mixed in stopped pustules from forming and generally cleared the skin up.

    I have tried this and it is very effective indeed. The effect with me was very quick – the pustules stopped overnight and skin blemishes cleared in a week

    What I did was to mix 3 parts of Sudocrem (healing cream with 16% zinc oxide) with 1 part of sulphur powder (by volume). As this made the cream very stiff, I added olive oil to reduce the viscosity to a level which could be easily applied to the skin. Warm gently in a microwave oven to aid the mixing.

    I hope that this is helpful to fellow sufferers.

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