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Two new journal articles written by researchers at the University of Colorado's Faculty of Medicine indicate that genetic and environmental factors play an important role in the development of vitiligo, an autoimmune disease that causes color loss spots on the skin.
The results also show that while the tools for scientific understanding of the genetic underpinnings of a complex disease such as vitiligo have progressed, there are still many other, yet unidentified factors that contribute to the onset of vitiligo.
"Vitiligo is perhaps the easiest disease to treat," said Richard A. Spritz, senior author, director of the Human Genetics Program and professor of pediatrics at the CU School of Medicine. "Over the years of previous studies, we have identified what one might call a" vitiligo parts list "of 50 common contributing genes / risk variants."
Spritz and his co-authors reviewed two types of vitiligo-simplex and multiplex cases. In most cases, vitiligo occurs in people with no family history of the disease, so-called simplex cases. In multiplex cases, there are other family members with vitiligo.
An article by Spritz and his co-authors of the book American Journal of Human Genetics combines the 50 common risk variants of vitiligo to form a "genetic risk score" of vitiligo, then compares the simplex and multiplex cases.
"The document could be called a first chapter of the" vitiligo use manual, "Spritz said. "We found that the genetic risk score of vitiligo is higher in multiplex families than in simplex cases, and the higher the number of affected parents, the higher the risk score. Multiplex families and simplex cases are fundamentally the same but the fact that families with multiple affected relatives present a higher genetic risk, meaning that the same treatments will likely be effective in both types of cases. "
This discovery complicates the ability of scientists and physicians to predict who might be affected by vitiligo. Single cases and multiplex cases seem to involve mainly the same underlying genetic variants, with different patients having only different combinations of genetic risk variants. Such discovery complicates the use of predictive personalized medicine to diagnose and treat complex diseases, Spritz said, as there do not appear to be subgroups of genetically defined patients with a different underlying biology, which could so respond differently to personalized treatments.
In addition to Spritz, the authors of the article are Genevieve H.L. Roberts, PhD Candidate in Human Genetics and Genomics of Humanity at CU Anschutz Medical Campus at the time of writing; Subrata Paul, Ph.D. student at CU Denver; Daniel Yorgov, PhD, badistant professor of applied statistics at Purdue University, Fort Wayne; and Stephanie Santorico, PhD, professor and director of statistical programs at the Colorado School of Public Health.
In the second article, published as a letter to the editor of the Journal of Investigative Dermatology, Spritz and his co-authors note that the average age of vitiligo onset in patients has dramatically changed over time. of the last decades.
"Vitiligo was converted primarily to pediatrics to become a disease in adulthood between 1970 and 2004," Spritz said. "It's amazing, our genes have not changed during this time period, altered genes or even gene effects do not seem to be the cause, it must reflect some beneficial environmental changes that delay or reduce the Triggering vitiligo in genetically susceptible. "What was it? We do not know."
The authors write that one or more environmental changes appear to have changed the onset of vitiligo and delayed the onset of the disease, with a similar pattern in North America and Europe. "While this seemingly beneficial change is a great way to discover the environmental triggers of vitiligo, the number of potential candidates is enormous," write Spritz and his colleagues.
Among some of the possibilities offered in the United States: the 1963 and 1970 Clean Air Acts, the 1963 Nuclear Test Ban Treaty, the 1969 Water Quality Act, the creation of of the Occupational Safety and Health Administration in 1970. Worldwide, sunscreens with sun protection factor were introduced in 1974. Even dietary habits can contribute to this. The authors note that yoghurt consumption became more common in the early 1970s, potentially affecting the intestinal microbiome of many people.
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