内皮细胞固有型一氧化氮合酶4b/a多态性与终末期慢性肾衰竭的关联性研究

Association of ecNOS 4 b/a polymorphism and end-stage chronic renal failure

目的 对天津地区汉族人内皮细胞固有型一氧化氮合酶基因内含子 4的插入 /缺失多态性 (ecNOS 4b/a)与终末期慢性肾衰竭 (ESCRF)的关联性进行研究。方法 应用PCR 小卫星DNA多态性分析技术 ,对 6 7例ESCRF患者 (观察组 )和 70例健康人 (对照组 )的ecNOS 4b/a基因型分布进行检测。结果 (1)观察组和对照组的三种基因型bb、ba和aa频率分别为 79 1%、19 4 %、1 5 %、91 4 %、8 6 %和 0 %。 (2 )两组等位基因分布差异有显著性 (χ2 =4 6 17,P <0 0 5 )。观察组比对照组a/ (a +b)OR值 (95 %可信区间 )为 2 6 4 (1 0 9,6 4 3) (Z =2 14 ,P <0 0 5 )。 (3)有a基因的ESCRF患者平均年龄 (47 4 3± 11 6 3)岁 ,无a基因的ESCRF患者平均年龄 (5 8 0 8± 13 6 8)岁 ,二者比较差异有显著性 (t=2 6 6 4 ,P <0 0 1)。 (4)天津汉族正常人群a基因频率 (4 3% )低于日本人 (10 1% ) (χ2 =4 898,P =0 0 2 7)。结论 天津地区汉族健康人群a等位基因频率低于日本人和澳洲白种人 ;ecNOS4b/a多态性与天津地区汉族人ESCRF有关联性 ,a基因与ESCRF危险性增加呈正相关。

Objective To examine the association between insertion/deletion polymorphism in intron 4 of ecNOS gene (ecNOS 4 b/a) and end stage chronic renal failure(ESCRF) in Han people in Tianjin, China. Methods The genotypes of ecNOS 4 b/a polymorphism were detected by PCR minisatellite DNA detection technique. 67 CRF patients on hemodialysis were included in the study group, with 70 healthy volunteers as controls. Results (1) The genotype frequencies were 79.1%, 19.4% and 1.5% in the patients and 91.4%, 8.6% and 0% in the controls for bb, ba and aa genotypes, respectively. (2) The allele frequencies were significantly different between the patients and controls (χ 2=4.617, P <0.05). The a/(a+b) odds ratio ( OR , 95% confidence interval) of the patients vs controls was 2.64(1.09,6.43) ( Z =2.14, P <0.05). (3) The average age of the patients with allele a was 47.43±11.63, while that without allele a was 58.08±13.68. The difference was significant, t =2.664( P <0.01). (4) The frequency of allele a is lower in Han people of Tianjin(4.3%) than that in Japanese(10.1%)(χ 2=4.898, P =0.027). Conclusions (1) The frequency of allele a is lower in Han people of Tianjin than that in Japanese and Westeners; (2) ecNOS 4 b/a polymorphism is associated with ESCRF in Han population of Tianjin and allele a is associated with the increased risk of ESCRF.