The Korean Journal of Medicine

The Korean Association of Internal Medicine (대한내과학회)
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TGF-$\beta$1 gene polymorphisms in rheumatoid arthritis

류마티스 관절염에 있어 TGF-$\beta$1 유전자 다형성

Han, Seung-Woo;Kim, Shin-Yoon;Kang, Young-Mo
한승우;김신윤;강영모

  • Published : 20030000
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Abstract

Background : Transforming growth factor-$\beta$1 (TGF-$\beta$1) has been shown to promote tissue repair and have immunosuppressive actions, and has been proposed to have a role in rheumatoid arthritis (RA). In this study, we have analyzed the association of five known polymorphisms in TGF-$\beta$1 gene with RA. Methods : We analyzed single nucleotide polymorphisms (SNPs) of TGF-$\beta$1 gene in RA patients(n=110) and controls (n=148). Allele frequencies of SNPs of TGF-$\beta$1 gene at positions -800 G/A, -509 C/T, 869 T/C (L10P), 915 G/C (R25P), and 1628 C/A (T265I) were determined by PCR-RFLP using genomic DNA. Results : There were no statistically significant differences in genotype and allele frequency distributions between cases and controls for -509 C/T or 869 T/C (L10P) polymorphism (p=0.47 and 0.46, respectively). Analysis of combined -509 C/T and 869 T/C genotype showed that the frequency of heterozygote/heterozygote combination was higher in RA partients which was not statistically significant. In the recessive model, the frequency of polymorphic homozygotes at -509 C/T and 869 T/C was lower in male patients with RA (14.3% vs. 31.3%, p=0.16). The frequency of rare alleles at -800 G/A and 915 G/C was very low and was not associated with RA. 1628 C/A (T265I) was not polymorphic in both groups. Conclusion : The present data indicated that the 5 selected SNPs of TGF-$\beta$1 gene were not associated with the susceptibility to RA.

목적 : TGF-$\beta$1은 조직 복구기능 및 면역 조절기능을 통해서 류마티스 관절염에 중요한 역할을 담당하는 다기능의 사이토카인이다. TGF-$\beta$1의 단일핵산다형성(single nucleotide polymorphism, SNP)들과 류마티스 관절염의 관계는 아직 명확히 알려져 있지 않으며 저자들은 TGF-$\beta$1 유전자에 있는 5개 부위의 SNP에 대해 류마티스 관절염의 관련 여부를 조사하였다. 방법 : 경북대학교병원에 내원한 류마티스 관절염 환자 110명과 대조군 148명을 대상으로 하였다. TGF-$\beta$1 유전자에 있는 promoter 부위의 -800 G/A 및 -509 C/T와 엑손 부위의 869 T/C, 915 G/C 및 1628 C/A의 유전자형을 PCR-RFLP 방법으로 분석하였다. 결과 : 류마티스 관절염 환자군과 대조군 간에 -509 C/T과 869 T/C에서 유전자형의 빈도 차이를 비교하였을 때 두군 간에 유의한 차이를 보이지 않았다. -509 C/T와 869 T/C의 유전자형 조합의 빈도는 두 유전자형이 모두 이형접합자인 경우(CT/TC)가 류마티스 관절염 환자군에서 51.8%로 정상대조군의 43.2%보다 다소 높았으나 유의성은 없었다. 환자군과 대조군을 성별에 따라 분류하여 -509 C/T와 869 T/C의 유전자형의 빈도를 조사한 결과 남성에 있어서는 다형성 대립형질의 동형 접합자 빈도가 류마티스 관절염 환자군에서 낮은 경향을 보였으며(14.3% vs. 31.3%, p=0.160) 여성에 있어서는 차이가 전혀 없었다. -800 G/A 및 915 G/C의 유전자형의 빈도는 양군 간에 차이가 없었고, 1628 C/A는 양군 모두에서 다형성이 관찰되지 않았다. 결론 : 본 연구에서 조사한 TGF-$\beta$1 유전자의 단일 핵산다형성들은 한국인 류마티스 관절염의 감수성에 영향을 미치지 못하였다.

Keywords

References

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