Association of estrogen receptor 1 intron 1 C/T polymorphism in Korean vitiligo patients.
BACKGROUND
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.


OBJECTIVE
To determine whether polymorphisms of ESR1 gene were associated with susceptibility to vitiligo patients in Korean population.


METHODS
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.


RESULTS
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.


CONCLUSIONS
The present study suggests that ESR1 may be a possible risk factor for female or generalized type of vitiligo patients.
Jin
Sheng-Yu
SY
Department of Pharmacology, College of Medicine, Kohwang Medical Research Institute, Kyung Hee University, Seoul 130-701, South Korea.
Park
Hyun-Ho
HH
Li
Guang-Zhe
GZ
Lee
Hee Jae
HJ
Hong
Mee-Suk
MS
Park
Hae-Jeong
HJ
Park
Hun-Kuk
HK
Seo
Jung-Chul
JC
Yim
Sung-Vin
SV
Chung
Joo-Ho
JH
Lee
Mu-Hyoung
MH
D000293:Adolescent; D000328:Adult; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007438:Introns; D007723:Korea / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D014820:Vitiligo / Q000453:epidemiology / Q000235:genetics*
D047628:Estrogen Receptor alpha