Researchers have identified 23 locations on the human genome that are newly linked to susceptibility for vitiligo, according to a study published in the journal Nature Genetics (Oct. 10, 2016).
Identifying these genes can provide a framework for the genetic architecture and biological mechanisms of vitiligo, highlight relationships with other autoimmune diseases and melanoma, and offer potential targets for treatment, the investigators concluded in their study.
“This study doubles the number of known genes involved in risk for vitiligo,” said Dr. Richard Spritz, professor and director of the Human Medical Genetics and Genomics Program at the University of Colorado School of Medicine in Denver, in a press release.
Dr. Spritz and his fellow researchers conducted genome-wide association studies on 4,680 people with vitiligo and 39,586 control cases and found the genes that provide a framework for the genetic architecture and biological mechanisms of vitiligo and highlight relationships with other autoimmune diseases and melanoma.
Dr. Spritz’s lab is trying to identify causal mutations in these genes by using DNA sequencing and genetic studies involving a large number of vitiligo patients from various different ethnic groups. This study focused on subjects of European ancestry.
“One of the purposes of the genome project was to give us the tools to do more complicated disease analysis,” said Dr. Spritz. “What’s emerging in general for complex diseases is that it is changes in gene regulation rather than gene structure that are causes.”
A better understanding of the causes of vitiligo could also lead to breakthroughs in other conditions. Vitiligo is epidemiologically associated with several other autoimmune diseases, including autoimmune thyroid disease, pernicious anemia, rheumatoid arthritis, adult-onset type 1 diabetes, Addison’s disease, and lupus. The researchers found associations between genes indicated in some of those conditions and vitiligo, and while it remains uncertain whether they reflect shared or different causes, it offers promising areas for future research.