Take part in genome-wide vitiligo study
Prof. Richard Spritz, MD, Director of Human Medical Genetics Program at the University of Colorado, has put together an international team of scientists to find the genes that cause vitiligo. Researchers don’t know what most of these genes are yet, so we need additional patients and families to narrow down the search.
To date, approximately 36 loci that contain candidate genes with convincing evidence for a role in vitiligo development have been identified by Prof. Spritz and his colleagues. Approximately 90% of these genes encode immunoregulatory proteins, whereas approximately 10% encode melanocyte proteins. The team has also discovered an apparent genetically inverse relationship of melanocyte-specific genes to vitiligo versus melanoma, which led to the suggestion that vitiligo may represent a dysregulated normal process of immune surveillance against malignant melanoma. While certainly not complete in all details, this model for the first time provides a conceptualization of vitiligo pathogenesis, and this may highlight potential new avenues for therapy and even disease prevention in individuals with a genetic predisposition to vitiligo.
Estimates of vitiligo heritability range from 46% in India to 16% in China, and researchers found that the concordance for vitiligo in monozygotic twins was 23%, supporting roles for both genetic and non-genetic factors in disease pathogenesis.
We invite you to give serious consideration to participating. Our long-term goal is to better understand the causes of vitiligo, so as to develop better treatments and even approaches to preventing vitiligo. This research will provide a deeper insight into both vitiligo pathogenesis and perhaps avenues towards more effective approaches to treatment and even disease prevention.
For direct respondents (as opposed to subjects enrolled by dermatologists who are collaborators), at this point the study is only open to patients who live in the USA, Canada, or the UK and are Caucasian. The first step in your participation is to download and fill out the questionnaire and email it to research team. They will then contact respondents that may be appropriate for the study to get further information and arrange for a saliva (spit) sample or, occasionally, a small blood sample.
The work of Dr Spritz in the field of human genetics began in the 'pre-molecular' era, and in the mid-1970s he took part in the first cloning of human genes and identification of the first human disease gene mutation. Over the past 30 years, Prof. Spritz and his colleagues have studied the genes involved in causing many different human diseases, including hemoglobin disorders, albinism and other skin diseases, autoimmune diseases such as vitiligo and thyroid disease.
Image, top right: from Modern Vitiligo Genetics Sheds New Light On An Ancient Disease by R.Spritz (link)
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