Vitiligo is a common disease characterized by cutaneous white maculae due to loss of melanocytes. It is a polygenic disease, however, the exact pathogenesis of vitiligo is not yet known. The estrogen receptor (ESR) 1 gene was selected as a candidate gene because some researchers treated vitiligo successfully with the steroid-thyroid hormone mixture containing estrogen. Furthermore ESR was expressed in the melanocytes which have an important role in the pigmentation. The polymorphisms of ESR1 gene in vitiligo patients was not reported yet. To determine whether polymorphisms of ESR1 gene were associated with susceptibility to vitiligo patients in Korean population. We conducted case-control association study of vitiligo patients (120) and healthy controls (254). Genotypes of ESR1 gene (intron 1 C/T, exon 4 C/G, and exon 8 A/G) were determined by polymerase chain reaction followed by restriction enzyme digestion. Intron 1 T/C allele frequency was significantly different between patients and controls (P = 0.034). Intron 1 T/C genotype distribution (P = 0.021) and allele frequency (P = 0.013) were different between female vitiligo patients and female controls. Intron 1 T/C allele frequency showed significantly difference between generalized type of vitiligo patients and controls (P = 0.044). Genotype distributions and allele frequencies of exon 4 C/G and exon 8 A/G polymorphisms were not different between patients and controls. The present study suggests that ESR1 may be a possible risk factor for female or generalized type of vitiligo patients. © 2004 Published by Elsevier Ireland Ltd on behalf of Japanese Society for Investigative Dermatology.
Jin, S. Y., Park, H. H., Li, G. Z., Lee, H. J., Hong, M. S., Park, H. J., … Lee, M. H. (2004). Association of estrogen receptor 1 intron 1 C/T polymorphism in Korean vitiligo patients. Journal of Dermatological Science, 35(3), 181–186. https://doi.org/10.1016/j.jdermsci.2004.06.008