内皮细胞固有型一氧化氮合酶 4 b/a多态性与终末期慢性肾衰竭的关联性研究

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 4 b/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67例ESCRF患者(观察组)和70例健康人(对照组)的ecNOS 4 b/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=4.617,P＜0.05).观察组比对照组a/(a+b)OR值(95%可信区间)为2.64(1.09, 6.43)(Z=2.14,P＜0.05).(3)有a基因的ESCRF患者平均年龄(47.43±11.63)岁,无a基因的ESCRF患者平均年龄(58.08±13.68)岁,二者比较差异有显著性(t=2.664,P＜0.01).(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=0.027).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;ecNOS 4 b/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.

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

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 (chi(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%) (chi(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.