Dr. Richard Spritz of the University of Colorado at Denver and his team from around the world have been researching the genetics of vitiligo for many years. His previous genome-wide association studies (GWAS 1 & GWAS 2) found 27 genetic loci (where a gene sits on one or more of the 23 chromosomes that make up human DNA) related to the development of vitiligo in patients of European ancestry as well as linkage to several other autoimmune diseases.
Recently, his team completed further research, including GWAS 3, in those of European ancestry, and combined the new results with those from the previous GWAS, examining a total of 4,680 vitiligo cases and 39,586 controls. This new research identified 23 new loci that are quite likely to be associated with vitiligo, and 7 more that are suggestive of being involved, thus doubling the number of known genes increasing the risk of developing vitiligo.
Most of the newly-identified loci are associated with regulating immune and cell processes, with some also associated with other autoimmune diseases and some with the regulation of melanocytes.
Dr. Spritz feels like they have a new understanding of how these genes work together to cause vitiligo and possibly related diseases such as autoimmune thyroid disease, pernicious anemia, Addison’s disease, rheumatoid arthritis, adult-onset type 1 diabetes, and lupus.
Because their research shows that many of these genetic variations are in areas that control how the genes function and regulate themselves, it may lead to specific areas to identify for vitiligo treatments as well as better understanding and treatments of these other diseases.