Genetics found to influence risk for rosacea

A new study by researchers from Stanford Medical School and 23andMe is the first to identify genetic variants associated with rosacea, a chronic skin disease estimated to affect more than 16 million people in the United States alone.Skin Graphic

Led by Dr. Anne Lynn S. Chang, of Stanford University’s School of Medicine, the study to be published in the Journal of Investigative Dermatology, is the first to identify genetic factors for this common but incurable condition. (The link is to a pre-print version of the paper.) Although the genetic basis for rosacea has long been hypothesized, this is the first study to find genetic variants associated with the condition.

The genes identified in the study support the concept of a genetic basis for rosacea and that could in turn help identify new targets for future studies to better understand and treat this condition.

The discovery portion of the study, which involved the consented participation of more than 22,000 23andMe customers, found two genetic variants strongly associated with the disease among people of European ancestry. Of the 22, 000 customers in this part of the study, more than 2,600 of them had rosacea and the other 20,000 did not have the condition and were used as controls.

Although rosacea is not life threatening, it is a serious and still little understood condition. Some of the symptoms include redness, inflammation, visible blood vessels, pimple like sores on the skin of the central face, as well as burning and itching. Left untreated it can lead to more serious complications, including disfiguring of the nose — called rhinophyma — and damage to the cornea causing vision problems. Because the condition is so visible it can make those who have it feel isolated.

“This is also another example of how 23andMe can help in researching common yet understudied diseases,” said
Joyce Tung, PhD, 23andMe’s Director of Research and a co-author of the paper.

Another intriguing finding from this study is that the single nucleotide polymorphisms (SNPs) found to be strongly associated with the condition, are in or near genes associated with other diseases including diabetes and celiac disease. One of the SNPs found strongly associated with the condition, rs763035, is between the genes HLA-DRA and BTNL2. The HLA-DRA gene is involved in histocompatibility and immune response, which is consistent with the inflammatory nature of rosacea.

To validate the association, 23andMe researchers tested the SNPs from the genome-wide association study in a separate group of 29,000 consented 23andMe customers. The researchers were able to confirm the same association with rosacea. For that portion of the study, researchers looked at more than 3,000 individuals with rosacea and 26,000 controls.

In addition to the genome wide association study that discovered the variants associated with rosacea, Dr. Chang and her team also took skin biopsies from six individuals with rosacea and showed that both HLA-DRA and BTNL2 proteins can be found in the skin of people with rosacea. This preliminary works hints toward the biological relevance of HLA-DRA and BTNL2 in rosacea.

The genetic associations found in this study and the associations with other diseases like diabetes and celiac disease may help direct future study.

  • summersetretrievers

    I’m finding that I can’t check these SNP’s am I doing something wrong? I think I have rosacea and would love to be able to check it out.

    • 23blog

      The two SNPs mentioned, rs111314066 and rs763035, are imputed in this study so you would not find them in the raw data.

      • Skeptic

        It would be nice if 23andMe stated clearly somewhere in its blogs whether the SNPs in question are included in our raw data. Otherwise this is just a tease — annoying waste of time,

        • Arvinder Bawa

          Perhaps the SNP is wrong. I have found rs3763305 on BTNL2. Could this be the one? Also the report does not state what nucleotide values are indicators of the condition.

  • tiger

    I have rosacea but do not find it in my medical studies.

  • Mike Johnson

    Please continue reporting as information develops and please disregard moaners as they are abundant everywhere and at all times.

  • Roni Wise

    I have ocular rosacea, extremely uncomfortable, very light sensitive with extreme dry syndrome. I also have gluten intolerance, thus a slight link with Celiac. These all have developed together over the past five years. I’m a walking immune system study, haha.

  • Romesblog

    Interesting potential link to celiac disease because someone I know saw Internet blog, not PubMed, references to gluten allergy and rosacea , tried eliminating wheat products from his diet, and the rash went away. It tends to reappear if he eats wheat products for a few days. Anecdotal but intriguing.

    • Cortney Fowles

      thats interseting…i really need to let wheat go. I’ve been fighting a losing battle with thinking I can get away with it once in a while.

  • Jama Espinoza

    How does an individual with a predominant Native American ancestry come up with rosacea? I and my daughter are the only persons in the family that have been diagnosed with rosacea. My daughter is very fair which comes from her father. I am a redskin and more so with rosacea. Does it come from my deep ancestry of Viking roots or my Neanderthal or Denisovan roots? This article is not very deep. It should give more information about in which European populations this disease predominates. People have always asked me why is your face so red? What do we do with this information? Of what practical use is it at this point with no cure in sight?

  • Michael James

    Interesting stuff (speaking as a rosacea sufferer)! I have downloaded the Chang et al paper (great that it is available freely in full – not very common). Rosacea is a multifactorial condition (many causes) and the fact that the significant snp rs763035 is ‘between’ genes, i.e. not part of a gene that is directly expressed, presumably reflects its variable nature. But my rosacea is not associated with diabetes or gut disease, in fact I’m a life-long sufferer of atopic allergy (eczema, rhinitis etc) which the paper does not mention – I find the lack of any mention of atopic allergy connection quite surprising. Did they miss a trick?

  • Shirlee Rainey

    I developed Rosacea about 10 years ago, then Lacrtose Intolerance, and Celiac like symptoms. Now I have been diagnosed with a Muscular Dystrophy rare disease called Dermatomyositis that also affects the skin!! It is very unpleasant with itching and sores all over my face, chest and arms. There must be a correlation between these diseases!

  • G/G. Rosacea and ocular rosacea. Practically asymptomatic once I started taking doxycycline 7 years ago. 100mg daily. I have no side effects. Doxy was a game changer. It also reversed my map-dot-fingerprint dystrophy. My opthalmologist says it’s gone. For any slight redness flare ups and combating actinic keratosis, I use skin products containing Niacinamide. Seems to work for me.

  • Kim E. Gheesling

    Just recognized this topic on this blog. I suffer from rosacea and am very curious as to how it affects others afflicted with this same skin disease.

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