转化生长因子β1基因多态性与慢性肾衰竭的相关性研究

摘要

Ob.jective To investigate the relationship between polymorphism of transforming growth factorbeta 1 ( TGF-β1 ) T869C and chronic renal failure(CRF). Methods Seventy-nine patients with chronic glomerulonephritis(21 of patients with normal renal function and 58 with CRF)and 70 healthy controls were included in the present study. All of them were divided into three groups:control group. chronic glomerulonephritis with normal renal function group. and chronic glomerulonephritis with CRF group. The polymorphism of TGF-β1 gene T869C was analyzed by sequence specific primers-polymerase chain reaction method. Results No significant differences in distributions of TGF-β1 T869C genotype and allele frequencies were found between the chronic glomerulonephritis with normal renal function group(TT: TC : CC= 42. 9 ％ : 38. 1％ : 9. 0％ ,T: C= 61. 9 ％ : 38. 1 ％ ) and the control group( TT : TC. : CC= 3/1. 3％ : 50 ％ :15. 7％ ,T: C= 59. 3％ : 40. 7％) (P＞ 0. 05). However, the TGF-β1 T869C polymorphism in the chronic glomerulonephritis with CRF group(TT : TC : CC= 13. 8％ : 50. 0％ : 36. 2 ％ , T: C= 38. 8％: 61. 2 ％) was significant differ ent from control group and chronic glomerulonephritis with normal renal function group. The frequencies of C allele and CC homo zygote in the chronic glomerulonephritis with CRF group were significantly higher than the other two groups(P＜O. 05). The rela tive risk suffered from CRF of C allele was 2. 297 times to that of the T allele(OR= 2. 297 ,95 ％ CI : 1. 395-3. 783 ). Conclusion TGF-β1 gene T869C polymorphism is associated with CRF. C allele and CC genotype may be two genetic markers for the genesis and development of CRF.%目的 探讨转化生长因子(TGF-β1)T869C基因多态性与慢性肾衰竭的相关性.方法 将入选该研究的79例慢性肾小球肾炎患者(21例肾功能正常,58例肾功能异常)和70例健康体检者分为慢性肾小球肾炎肾功能代偿组、慢性肾小球肾炎肾功能失代偿组和健康对照组.用序列特异性引物聚合酶链(PCR-SSP)技术检测TGF-β1 T869C基因多态性.结果 健康对照组和慢性肾小球肾炎肾功能代偿组TGF-β1 T869C基因型和基因频率分布差异无统计学意义(P>0.05);而该两组与慢性肾小球肾炎肾功能失代偿组比较差异有统计学意义(P<0.05).携带C等位基因的个体患慢性肾衰竭的风险度约是T等位基因的2.297倍(OR=2.297,95%CI:1.395～3.783 ).结论 TGF-β1 T869C基因多态性与慢性肾衰竭进展存在显著相关性,C等位基因和CC基因型是慢性肾衰竭进展的遗传易感性标记.