Stanford continuing Genetic link to Rosacea


Last year a group of researchers from Stanford University and 23andMe, lead by Dr. Anne Chang published some ground breaking discoveries relating to 2 genes that looked like they might be related to rosacea symptoms.

The findings were described by Stanford;

Genetic basis of rosacea identified by researchers

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.”

The research group are continuing their investigations with a clinical trial that is looking for volunteers who will undergo a biopsy. 10 tosacea sufferers with papulopustular symptoms are being sought.

Rosacea News covered the results;

Genetic link to Rosacea Cause Gets Closer

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”.

Clinical Trial Details

The next trial in support of the research into a genetic link to rosacea has been announced.

Clinical Trial NCT02749786

Genetic Basis of Rosacea Study (Control)

Expansion Arm of Papulopustular Rosacea Gene Expression Profiling to Include Normal Individuals as Anatomic Site Specific Controls

Sponsor: Stanford University
Information provided by (Responsible Party):Anne Chang, Stanford University
Estimated Enrollment: 10
Study Start Date: October 2015
Estimated Study Completion Date: October 2016

Rosacea is a common disease characterized by inflammation and vascular abnormalities of the facial skin and ocular surface. It it considered to be a syndrome encompassing various combinations of cutaneous signs including flushing, erythema, telangiectasia, papules, edema, ocular lesions, and rhinophyma.

The exact etiology of cutaneous rosacea is unknown but is characterized by persistent vasodilation, increased vascular permeability, and vascular hyper-reactivity of the microcirculation of the central part of the face.

The purpose of this study is to develop gene expression profiles of papulopustular rosacea compared to those of normal skin. The investigator hopes to better understand the abnormal gene functions that might contribute to this condition. This understanding may lead to the development of additional and better treatments for rosacea.

Genetic: Skin Biopsy. Skin biopsies will be performed via the Keys punch technique from normal facial skin.

Control Group: Ten participants who does not have rosacea will be used as the control group.

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

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