Korean J Med.  2003 Sep;65(3):335-342.

TGF-beta1 gene polymorphisms in rheumatoid arthritis

• Han SW
• Kim SY
• Kang YM

Abstract

BACKGROUND: Transforming growth factor-beta1 (TGF-beta1) has been shown to promote tissue repair and have immunosuppressive actions, and has been proposed to have a role in rheumatoid arthritis (RA). In this study, we have analyzed the association of five known polymorphisms in TGF-beta1 gene with RA.
METHODS
We analyzed single nucleotide polymorphisms (SNPs) of TGF-beta1 gene in RA patients (n=110) and controls (n=148). Allele frequencies of SNPs of TGF-beta1 gene at positions -800 G/A, -509 C/T, 869 T/C (L10P), 915 G/C (R25P), and 1628 C/A (T265I) were determined by PCR-RFLP using genomic DNA.
RESULTS
There were no statistically significant differences in genotype and allele frequency distributions between cases and controls for -509 C/T or 869 T/C (L10P) polymorphism (p=0.47 and 0.46, respectively). Analysis of combined -509 C/T and 869 T/C genotype showed that the frequency of heterozygote/heterozygote combination was higher in RA partients which was not statistically significant. In the recessive model, the frequency of polymorphic homozygotes at -509 C/T and 869 T/C was lower in male patients with RA (14.3% vs. 31.3%, p=0.16). The frequency of rare alleles at -800 G/A and 915 G/C was very low and was not associated with RA. 1628 C/A (T265I) was not polymorphic in both groups.
CONCLUSION
The present data indicated that the 5 selected SNPs of TGF-beta1 gene were not associated with the susceptibility to RA.

Keyword

Rheumatoid arthritis; Transforming growth factor-beta1; Single nucleotide polymorphism

MeSH Terms

Alleles
Arthritis, Rheumatoid*
DNA
Gene Frequency
Genotype
Homozygote
Humans
Male
Polymorphism, Single Nucleotide
Transforming Growth Factor beta1*
DNA
Transforming Growth Factor beta1