The Genetics of Rosacea

The Genetics of 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.The Genetics of Rosacea

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.

What People Say Works Best for Acne

What People Say Works Best for Acne

What People Say Works Best for Acne

Some of the most effective treatments for acne are not necessarily drugs, according to a new study by CureTogether, a free resource owned by 23andMe that allows people to share information about their health and treatments.

People in the study said they found that lifestyle changes like a paleo diet, reducing sugar, and getting plenty of sunshine were among the most effective in treating acne. In addition, those who participated in the study said that more conventional medical treatments such as Accutane, which ranked at the top of the list, helped a great deal. Conversely some common treatments such as Clearasil, hydrogen peroxide, and soap, were among the least effective, according to the study.

Acne affects millions of Americans and can be embarrassing to experience. Finding accurate recommendations on treatments that work well can be challenging, so CureTogether asked people suffering from acne to rate the effectiveness of different treatments. The study compiled responses from 4,375 people with acne, who rated the effectiveness of 72 different treatments.

Most Effective Rated Treatments for People with Acne
1. Accutane
2. Paleo diet
3. No gluten
4. Bactrim
5. Sunshine
6. 10% Benzoyl Peroxide cream
7. No sugar
8. Avoid touching face
9. No dairy
10. Birth control pill

Where did this data come from? This is the result of a four-year CureTogether study on Acne, in which people living with the condition shared information about their symptoms and what treatments worked best for them. We’d like to thank those who participated. And just as they shared their experience with treatments, we’re freely and openly sharing the results of the acne study.

This is part of a regular series of CureTogether research findings. CureTogether’s research findings are different than those made by 23andMe, which look at genetic associations with illness, traits and drug response. But as we continue our work with the CureTogether community, 23andMe hopes to incorporate more of this kind of self-reported information into our own research. CureTogether present its findings just as they are — patient-reported data — to stimulate discussion and generate new insights for further research.

Please tweet, blog, or pass this along to anyone who can benefit or is interested in acne. Thank you!

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