Rosacea causes skin on the face to redden and can result in acne-like bumps, but it isn’t just an aesthetic problem. Some rosacea patients experience itching, stinging and burning sensations on the affected skin, which can make sleeping, concentrating and social interactions challenging.
Finding out what causes rosacea could help scientists identify new treatments and understand its links to other known diseases – and Stanford researchers, in collaboration with the personal genomics and biotechnology company 23andMe, have now identified a genetic basis for the incurable but treatable inflammatory disease. Their work was published online March 12 in the Journal of Investigative Dermatology.
I describe in a press release how Anne Lynn Chang, MD, lead author of the paper and an assistant professor of dermatology at Stanford, and her collaborators partnered with 23andMe on this work. 23andMe customers of European descent were asked via survey if they had ever been diagnosed with rosacea, and those who answered yes were grouped together while those who answered no were placed in a control group. And then:
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 tyrosine, 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 of the genome were linked to having rosacea, and both areas were near genes involved in systemic inflammatory and autoimmune diseases, such as multiple sclerosis, diabetes, sarcoidosis and inflammatory bowel disease.
“The next step is to look more into these associations of rosacea with other diseases,” Chang told me, “and explore whether the inflammation in rosacea is a cutaneous sign of risk for other disease.”
Kimberlee D’Ardenne is a writing intern in the medical school’s Office of Communication and Public Affairs.
Previously: New study: Genes may affect skin youthfulness and When it comes to your genetic data, 23andMe’s Anne Wojcicki says: Just own it
Photo, altered from original, by Kristie Wells