What does this gene do?

Rosacea is seen as a chronic inflammatory skin disease. It affects the face, mainly the forehead, nose, cheeks and chin.It may cause feeling of itching, stinging or burning sensations in affected areas.

There are three main types of rosacea, characterised by signs and symptoms.

  1. Erythematotelangiectatic rosacea causes skin redness and warmth and visible clusters of blood vessels.
  2.  Papulopustular rosacea causes skin redness, swelling, and pus-filled bumps called pustules.
  3. Phymatous rosacea is characterized by thickened skin on the face and a bulbous nose.

Rosacea is common, with a number of different causes, that include environmental stressors, neurovascular and immune dysfunction in the presence of pathogens. There has been found that genetic factors influence the disorder, many of them still to be discovered.

According to the National Rosacea Society 5% of the population is affected by this disease. In northern European countries prevalence is greater at 10% of the population.

Among the genes thought to play a role in rosacea, are several genes in a family called the human leukocyte antigen (HLA) complex. This complex helps the immune system determine the difference between an invader and it’s own protein. Certain variants in HLA genes likely contribute to the abnormal inflammation synonymous with rosacea.

Another group of genes associated with rosacea are the GST family. Variants in several GST gene have been linked to increased risk of developing rosacea.

In a study in 2015, researchers identified two rosacea-associated gene variants. The regions may be linked to other diseases.

The HLA-DRA gene is involved in the immune response. If there is a single T allele in this gene variant there is a 1.2 times increased risk for rosacea. The homozygous TT allele, increases the risk for rosacea by 1.4 times.