转化生长因子β1基因T869C多态性与类风湿关节炎的相关性

Correlation of transforming growth factor β1 gene T869C polymorphism and rheumatoid arthritis in Chinese population

目的研究转化生长因子β1(TGFβ1)基因T869C多态性与江苏地区汉族人群类风湿关节炎(RA)的相关性。方法76例随访2年的RA患者及100例健康对照组,PCR-RFLP方法检测TGFβ1基因T869C多态性,比较两组间基因型及等位基因频率,并分析RA组不同基因型间临床及实验室指标的差异。结果RA组CC基因型频率较对照组显著下降,而CT及TT基因型频率则显著升高(P<0·05),与对照组相比,RA组C等位基因频率下降,而T等位基因频率升高(P<0·01),与CC基因型相比,CT、TT基因型的RA危险度分别为2·62倍(P<0·05)和3·60倍(P<0·01);RA组携带T等位基因的基因型(CT+TT)发病年龄显著低于CC基因型(P<0·05),在X线≥III期改变比例也显著高于CC基因型(P<0·01)。结论TGFβ1基因多态性与RA相关,T等位基因是RA的遗传易患因子,并且与RA起病及严重程度呈正相关。

Objective To detect the association of transforming growth factorβ1 （TGFβ1） gene T869C polymorphism with rheumatoid arthritis （RA） susceptibility in Chinese population. Methods TGFβ1 genotypes of 76 cases of RA and 100 cases of healthy control were detected by PCR-RFLP. TGFβ1 genotypes and alleles frequencies were compared between two groups, and the impacts of TGF131 genotypes on clinical features, serologic parameters and X-ray were evaluated as well. Results The frequencies of CT and TT genotype in RA group were higher than those in control subjects （P〈 0. 05）. the frequencies of T allele （58. 55%） were higher and of C allele （41. 45%） lower in RA group than those in the controls （P〈0. 01）. The patients with CT or TT genotype had 2.46 （P〈 0. 05） or 3. 60 （P〈0. 01） times the risk of RA when compared to CC genotype. Patients with T allele had more severe disease. Conclusion Polymorphism of T869C in TGFβ1 gene is associated with RA. T allele is probably a genetic marker of RA and poor functional outcome in Chinese population.