Transforming growth factor-beta1 polymorphisms in Korean patients with systemic sclerosis.
Transforming growth factor-beta1 (TGF-beta1) plays an important role in the pathogenesis of systemic sclerosis (SSc). To investigate the role of TGF-beta1 gene polymorphisms in SSc, we genotyped six biallelic polymorphic positions (position -988, -800, and -509; and codons 10, 25, and 263) in 61 Korean SSc patients and in 148 healthy controls, using polymerase chain reaction-sequence-specific primers. Genetic polymorphisms were found at position -509 and codon 10 in Koreans. The allele frequencies of C/T at position -509 were 0.59/0.41 in patients and 0.56/0.44 in controls. The allele frequencies of C/T at codon 10 were 0.40/0.60 in patients and 0.50/0.50 in controls. In conclusion, no skewed distribution of TGF-beta1 gene polymorphisms was found in Korean patients with SSc.
Lee
E B
EB
Department of Internal Medicine, Clinical Research Institute, Medical Research Center, Seoul National University College of Medicine, 28 Yungon-dong, Chongno-gu, Seoul 110-744, Korea.
Kim
J Y
JY
Lee
Y J
YJ
Abdallah
A
A
Lympany
P
P
Song
Y W
YW
D000328:Adult; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007723:Korea; D008297:Male; D011110:Polymorphism, Genetic; D012595:Scleroderma, Systemic / Q000235:genetics*; D016212:Transforming Growth Factor beta / Q000235:genetics*; D053773:Transforming Growth Factor beta1
C508960:TGFB1 protein, human; D016212:Transforming Growth Factor beta; D053773:Transforming Growth Factor beta1