Did you know DNA influences your risk of rosacea?

Excessive blushing or rosacea? The HLA gene involved in immunity plays a role in rosacea

Princess Diana captured the hearts of millions with her shy demeanor and her “kaleidoscopic – full of life and constantly changing” face. Many of her photographs feature her famous blush that portrayed a wealth of emotions from frustration to sullenness and joy. Diana’s ever-present blush was partially due to a chronic skin condition known as rosacea.

Rosacea is a skin disorder with a strong genetic component, which is why Prince William also often sports reddened cheeks in public, especially after a vacation in the sun or a ski trip. Genetic studies suggest that rosacea actually have some similarities to diabetes and celiac disease. All three conditions involve a version of the HLA-DRA gene that results in a malfunctioning immune system.

Over 16 million Americans live with rosacea. It is also prevalent in many European countries, including England, Russia and Germany. Symptoms vary from person to person. Some individuals only experience mild forms of the disease, characterized by intermittent blushing or skin irritation. Severe cases are characterized by bumps, pimples and enlarged blood vessels, causing the skin to appear rough and uneven.

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At present there’s no cure for rosacea, and if left untreated it can cause rhinophyma, a large bulbous and ruddy nose. Similar to other skin conditions like acne and eczema, rosacea can be exacerbated by external factors. Alcohol, sun exposure, spicy food, bacteria and Demodex mites have all been implicated in triggering rosacea outbreaks. Research has mostly focused on external triggers to uncover potential stimuli and how to effectively manage them. This means that finding genes explaining the physiological changes associated with rosacea has lagged behind.

A recent study has linked two possible candidate genes to rosacea, of which the HLA-DRA gene is the prime suspect. The HLA genes produce proteins that assemble into the major histocompatibility complex (MHC). This complex is a structure on the surface of our cells that plays a central role in immunity.

Individuals with rosacea are more likely to have a genetic variant of the HLA-DRA gene called rs763035. Skin biopsies found that HLA-DRA was present in affected skin, but not detected in the skin of unaffected individuals. The immune response initiated by the MHC includes localized inflammation and swelling; hence, it is proposed that rs763035 results in an altered form of HLA-DRA that is responsible for the sometimes disfiguring symptoms of rosacea. Identifying and studying the genes involved in rosacea will allow us to better understand this incurable, yet common, condition. Furthermore, it will also assist in the identification of potential new targets for treatment options.

Blushing, according to Darwin, is “the most peculiar and the most human of all expressions”. However, constantly being mistaken for blushing or being inebriated must become tiring. In fact, according to the majority of rosacea sufferers, their condition has a strong negative impact on their quality of life. Being informed of your potential to contract rosacea puts you at an advantage. This disorder is often misdiagnosed, and managing rosacea is impacted by lifestyle choices, as well as treatment options. Choose to empower yourself with knowledge, and don’t let rosacea hold you back from living your life to the fullest.

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