新疆维吾尔族和哈萨克族人群原发性高血压与同型半胱氨酸及胱硫醚β合成酶 T833 C多态性的关系

摘要

Objective To investigate the associations between the plasm homocysteine ( Hcy) levels or cystathi-onine βsynthase ( CBS) T833C gene polymorphism and essential hypertension in Xinjiang Kazakh and Uyghur nationali -ties.Methods Three-hundred Uyghur patients with hypertension ( Uyghur hypertension group ) , 300 Uyghur people with normotension ( Uyghur control group ) , 300 Kazakh patients with hypertension ( Kazakh hypertension group ) , and 300 Kazakh people with normotension ( Kazakh control group ) were enrolled for the study .The Hcy level and related bio-chemical indices in 4 groups were detected with automatic biochemical analyzer .CBS T833C gene polymorphism was de-tected by amplification refractory mutation system (ARMS), and then the associations between the plasma Hcy level or CBS T833C gene polymorphism with essential hypertension was analyzed .Results The plasma Hcy level in Uyghur hy-pertension group and Kazakh hypertension group was higher than Uyghur control group and Kazakh control group with sig -nificant difference (P<0.05).The total frequency distributions and allele frequency distributions of three genotypes be -tween Uyghur hypertension group and Uyghur control group were significantly different ( P<0.05 ) .The total frequency distributions and allele frequency distributions of two genotypes between Kazakh hypertension group and Kazakh control group were significantly different (P<0.05).Conclusion The increase of Hcy level is associated with Kazakh essential hypertension in Kazakh and Uyghur populations in Xinjiang .CBS T833C gene polymorphism has association with essential hypertension in Kazakh and Uyghur populations in Xinjiang .%目的：探讨新疆维吾尔族、哈萨克族人群原发性高血压与胱硫醚β合成酶（ CBS）基因T833C多态性的关系。方法选择维吾尔族300例原发性高血压患者（维族高血压组）和300例血压正常者（维族对照组），哈萨克族300例原发性高血压患者（哈族高血压组）和300例血压正常者（哈族对照组），运用全自动生化分析仪检测4组研究对象血浆中相关生化指标及Hcy水平，运用扩增阻碍突变系统法技术检测4组研究对象CBS基因T833C多态性，分析CBS基因T833C多态性与原发性高血压及Hcy的相关性。结果维、哈族高血压组血浆Hcy水平均显著高于其对应的对照组（ P＜0.05）；维族两组中TT、TC、CC 3种基因型总体频率分布及等位基因频率分布差异均有统计学意义（ P＜0.05）。哈族两组中TT、TC 2种基因型总体频率分布及等位基因频率分布差异均有统计学意义（ P＜0.05）。结论 Hcy水平升高与新疆维吾尔族、哈萨克族人群原发性高血压发病具有相关性。CBS基因T833 C多态性与新疆维吾尔族、哈萨克族人群原发性高血压的发生相关。