Vitiligo pp 253-264 | Cite as


  • Li ZhouEmail author
  • Henry W. Lim
  • Qing-Sheng Mi


Even though the pathogenesis of vitiligo is not completely understood, the most compelling etiology of vitiligo involves a combination of environmental and genetic factors that contribute to autoimmune melanocyte destruction. Large-scale epidemiological studies have shown that about 15–20% of vitiligo patients have one or more affected first-degree relatives. The familial aggregation takes a non-Mendelian pattern that suggests a polygenic, multifactorial inheritance for vitiligo. Recent genome-wide association studies (GWAS) to investigate the genetics of vitiligo have resulted in the identification of multiple vitiligo susceptibility genes (Birlea et al., J Invest Dermatol 130:798–803, 2010; Quan et al., Nat Genet 42:614–618, 2010), many of which are shared by other autoimmune diseases. These evidences strongly support the significance of genetic factors contributing to one’s risk for vitiligo. Nevertheless, the concordance for generalized vitiligo in monozygotic twins is only 23%, which suggests that environmentally induced epigenetic factors must also play an important role, and may be even more important than genetics.

Epigenetics is the study of hereditable patterns of gene expression without changes in the DNA sequence. Epigenetic regulations in response to environmental changes play a critical role in determining gene function and activities. Disorders of epigenetic processes, which involve DNA methylation, histone modification, and noncoding RNA expression, were found to be associated with the pathogenesis of various diseases. Over the past few years, great progress has been made in identifying related epigenetic mechanisms in autoimmune disease development, including vitiligo, to bridge the gap between environmental and genetic factors. These emerging studies provide new insights into not only clinical biomarkers for diagnosis and disease progression but also novel targets for potential epigenetic therapeutic strategies. In this chapter, we summarize the epigenetic regulations in melanocyte biology, immune tolerance regulation, as well as related epigenetic alterations in autoimmune vitiligo.


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© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Henry Ford Immunology Program, Department of DermatologyHenry Ford HospitalDetroitUSA

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