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Vitiligo

March 17, 2008

Romanian Community Provides Insight Into Genetic Factors 
Associated With Vitiligo 
 
An isolated, inbred Romanian community has a higher than 
average frequency of the skin disease vitiligo and other 
autoimmune diseases, suggesting a genetic variation that 
may indicate susceptibility to the condition in a broader 
population, according to a report in the March issue of 
Archives of Dermatology, one of the JAMA/Archives journals. 
 
Vitiligo is a disorder in which progressive patches of 
skin, hair and mucous membranes lose color due to a 
decrease in the number of pigment-producing cells known as 
melanocytes, according to background information in the 
article. Vitiligo affects about 0.38 percent of whites and 
occurs with similar frequency in populations worldwide. 
Researchers are attempting to identify the genes 
responsible for susceptibility to vitiligo, in part to 
identify pathways through which effective treatments might 
be developed. 
 
Stanca A. Birlea, M.D., Ph.D., and colleagues at the 
University of Colorado Denver , Aurora , Colo. , studied 
1,673 residents of a geographically isolated community in 
the mountains of northern Romania between 2001 and 2006. 
The researchers identified patients with vitiligo and 
obtained information on demographic data, genealogies, 
occurrence of other diseases and family structure. The skin 
of patients with vitiligo and their relatives was examined. 
 
During the study, researchers identified and examined 51 
patients with vitiligo. “The 2.9 percent frequency of 
vitiligo in the study community is 19.3 times its 0.15 
percent frequency in the five surrounding villages, 7.5 
times that among whites on the island of Bornholm, 5.7 
times that among individuals in Calcutta, India and 22.5 
times that among Han Chinese in Shaanxi Province, China, 
the only other populations for which empirically determined 
prevalence estimates have been published,” the authors 
write. Rates of other autoimmune diseases, including 
thyroid disease, adult-onset type 1 diabetes and rheumatoid 
arthritis, were also elevated in the community.  
 
However, the average age at which symptoms of vitiligo 
first developed was 36.5 years, significantly older than 
the average age of onset among white individuals (24.2 
years). Analyses indicated that this unusual factor most 
likely was not genetic. “Whereas disease susceptibility 
seems to involve a major genetic component, actual onset of 
vitiligo in genetically susceptible individuals seems to 
require exposure to environmental triggers,” the authors 
write. 
 
The community’s isolation may make it easier for 
researchers to identify mutated genes that increase risk 
for vitiligo in this population, they conclude. “While this 
gene variant is of particular importance in this isolated 
special population, it likely is also involved in disease 
susceptibility in the broader white population and, thus, 
is of broader importance,” they write. 
 
Arch Dermatol. 2008; 144[3]:310-316.