Vitiligo gene linked to other autoimmune diseases

In a study appearing in the March 22 New England Journal of Medicine, scientists supported by the National Institutes of Health's National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) have discovered a connection between a specific gene and the inflammatory skin condition vitiligo, as well as a possible host of autoimmune diseases.

Vitiligo is a chronic condition in which melanocytes (the cells that make pigment) in the skin are destroyed. As a result, white patches appear on the skin in different parts of the body. Similar patches also appear on both the mucous membranes (tissues that line the inside of the mouth and nose), and perhaps in the retina (inner layer of the eyeball). The hair that grows on areas affected by vitiligo sometimes turns white.

The researchers began a search for genes involved in vitiligo almost a decade ago with the help of the Vitiligo Society in the United Kingdom. "In the beginning we were looking for multiple family members with vitiligo," says Richard Spritz, M.D., director of the Human Medical Genetics Program at the University of Colorado at Denver and Health Sciences Center and lead investigator for the study. The researchers sent a questionnaire to members of the society, asking them about their own vitiligo and whether other family members were affected. As part of the questionnaire, they also asked about other autoimmune diseases. What they learned was that vitiligo was "very highly associated" with a number of other autoimmune diseases, mostly thyroid disease, but also pernicious anemia, rheumatoid arthritis, psoriasis, lupus, Addison's disease, and adult-onset autoimmune diabetes.

That finding prompted the researchers to study families with multiple affected members and to look for similarities in genes among those who were affected. By searching the genome, they discovered a gene, NALP1, that was key to predisposing people to vitiligo and other autoimmune diseases, particularly autoimmune thyroid disease, says Dr. Spritz. "We know that about 20 percent of people with vitiligo also get autoimmune thyroid disease, and this gene may be involved in mediating both of those," he says.

Dr. Spritz says the implications of this finding are exciting. The identified gene controls part of what is called the innate immune system, which is our body's first defense against infection, he says. "When we are attacked by viruses or bacteria, the innate immune system stimulates the inflammatory pathways and calls the rest of the immune system to action. NALP1 is probably a receptor for bacterial or viral signals. We don't know what these signals are, but now that we know what the gene is, we can use that knowledge to search for the signals that trigger autoimmune disease."

"All autoimmune diseases involve the interaction of multiple genes and environmental triggers," he continues. "You are born with your genes, but you are not born with these diseases. Something happens. We don't know what the triggers are that start these diseases, but if we did, maybe we could avoid them or even block the process. In fact, it may even be possible to actually stop the autoimmune disease," he says.

The most immediate application of this research might be for the disease that began the research: vitiligo. Doctors usually treat vitiligo with ultraviolet (UV) light to stimulate skin repigmentation. Scientists also know that there is one medication available (approved for treating rheumatoid arthritis) that blocks an inflammatory pathway thought to be controlled by NALP1. The possibility of combining a drug with UV light to improve vitiligo treatment is intriguing, and Dr. Spritz is now interested in finding out more about how the medication might affect people with vitiligo.

NIAMS Director Stephen I. Katz, M.D., Ph.D., calls the discovery of the NALP1-autoimmunity connection an important advance in the understanding of autoimmune diseases that collectively affect an estimated 15 million to 25 million Americans. "The more we understand about these diseases, including the genes that predispose to them and the environmental factors that trigger them, the closer we come to better treatments and even preventive measures," he says.


  1. jane cooper jane cooper United Kingdom says:

    I was so thrilled to find this information. I myself have vitiligo and now it looks like I have RA as well. there is a long line of adult onset diabetes in my family, my father and my uncles but not vitiligo as far as I know. I have long thought myself that there must be some hereditary gene at the root of this and this progress is exciting !!!

  2. patricia orsini patricia orsini Italy says:

    I have vitaligo now for 30 father also had it....I also have a thyroid son also has vitaligo....let's hope they can cure us....I am still waiting!

  3. Judith K. Badger Judith K. Badger United States says:

    My youngest son at the age of 22 was diagnosed with Vitiligo.  My middle son at the age of 22 was diagnosed with ankylosing spondylitis.
    I was diagnosed with Vitiligo at the age of 52. Interesting to note that each one of us was under 'stress' at the time that we were diagnosed.  

  4. MP MP United States says:

    I am glad that they have finally found a source for the cause of Vitiligo, which I have had for over 30 years.  I also have developed Hashimoto's disease (hypothyroidism), my mother had hyperthyroidism, my first cousin had thyroid cancer and hyperthyroidism, and his daughter has Hashimoto's.  ALL these are genetically connected!!!

  5. Kara Kara United States says:

    I am 41 years old and my Vitiligo first showed up when I was 5.  I developed a rather large patch on my left leg right away, with only a few smallish patches on other areas of my body.  No real spreading after the first year or so, and I actually had some repigmentation in my teens(no treatment, totally spontaneous)  Fast-forward to age 38, after I had my first and only child.  Vit went CRAZY soon after I gave birth.  I also had major post-partum depression and anxiety(my stress level was OFF THE CHARTS).  Large new areas on my knuckles, back of one forearm, tops of feet.  Very discouraging considering I'd spent MANY years thinking it probably wouldn't spread anymore.  No one has Vitiligo in my family, but my father did have age-onset Diabetes, my grandmother had prenicious anemia, and my sister (2 1/2 years older) has thyroid issues.  

    • Oana Cristina Palade Oana Cristina Palade Egypt says:

      I have a similar story with vitiligo like you. How did you deliver? natural or C-section?

  6. richard smayda smayda richard smayda smayda United States says:

    I am a physician and at our practice in Ny City we have seen vitiligo parkinsons and thyroid disease together and is of autoimmune nature called Smayda's Disease
    Since the T cells attack the Melanocytes in skin that are cells that make melanin from the amino acid tyrosine, neuromelanin in certain brain cells also called dopamine and thyroid cells that take tyrosine and add iodine to my thyroid hormone. this disease has a familial pattern.   Path Medical 23 & Park NY NY

  7. Tonya Belew Tonya Belew United States says:

    My father had full onset of vitiligo at age 17.  He now has Myasthenia Gravis, full blown in crisis, at age 69.  We are Choctaw indian, and EVERY person in our family and extended family has an autoimmune disease.  The onset almost every time has been triggered. i.e. heat stroke, allergic reaction, extreme stress,....  It manifests itself differently in each individual.  Lupus, RA, diabetes, food allergies, thyroidism  (hypo & hyper).  I pray for breakthroughs in gene therapy.  (We live in Oklahoma)

  8. Vicki Elbourne Vicki Elbourne Australia says:

    I also have Vitiligo & it started in my twenties after I took suntan tablets, cannot remember what they were called, but I do remember buying them from a chemist, was also talking to another Vitiligo victim & she said the exact same thing happened to her

The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of News Medical.
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