目的：探讨血浆同型半胱氨酸（ Hcy ）及胱硫醚β合成酶（ CBS ）基因 T833C 多态性与新疆哈族原发性高血压（ EH ）的相关性。方法：选取哈族 EH 患者239例（ EH 组）和206例血压正常者（对照组）为研究对象，自动生化仪检测受试对象血浆 Hcy 水平及生化指标，扩增阻碍突变系统（ ARMS ）检测两组 CBS T833C 多态性，观察 TT、TC 和 CC 基因型以及 T、C 等位基因频率在 EH 组和对照组中的分布。结果：哈族EH 患者血浆 Hcy 水平高于对照组，且 TC 基因型个体血浆 Hcy 水平高于 TT 基因型个体，差异有统计学意义（P ＜0．05）；哈族 EH 组 C 等位基因高于对照组，差异有统计学意义（P ＜0．05）；哈族组携带 C 等位基因的 TC 基因型个体患 EH 的风险是 TT 基因型的2．39倍（OR ＝2．39，95％CI：1．125～5．076，P ＝0．02）。结论： Hcy 水平升高可能是哈族 EH 的危险因素之一， CBS T833C 基因多态性与哈族 EH 存在相关性。%Objective To investigate the correlation between the plasm homocysteine (Hcy) levels and cystathionine β synthase (CBS) T833C gene polymorphism in Xinjiang Kazakh with essential hypertension. Methods 239 Kazak patients with hypertension (hypertension group) and 206 with normotensive (control group) were selected for the study. Amplification Refractory Mutation System (ARMS) was used to analyze the polymorphism of CBS gene T833C, TT, TC and CC genotypes and the various sites of T, C allele frequencies in research group and the control group. Results Plasma of Hcy level was higher in the hypertensive group than those of control group, the difference was significant (P<0.05), and the individual plasma of Hcy with TC gene was higher than that with TT gene. The C allele frequencies was significantly higher in EH group than that in controls in Xinjiang Kazakh population, and the difference was significant (P<0.05). The risk of EH group in individuals carrying TC genetype was 2.39 times higher than in individuals carrying TT genetype (OR = 2.39, 95%CI:1.125 ~5.076, P = 0.02). Conclusion Elevated Hcy level may be a risk factor of Kazakhs hypertension in Xinjiang. The Cystathionine β synthase gene of T833C polymorphism may be associated with essential hypertension in Kazak people in Xinjiang.
展开▼
