[胱硫醚β-合酶基因多态性与新疆维吾尔族和汉族原发性高血压的关联]

[Association of cystathionine β-synthase gene polymorphisms with essential hypertension in ethnic Uyghurs and Hans from Xinjiang].

作者信息

Shi Qingping, Zhang Ying, Wang Hong, Ouyang Juyan, Chen Fang, Xu Meng

机构信息

Department of Cadre Ward, First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830054, P. R. China. Email:

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Feb;32(1):94-100. doi: 10.3760/cma.j.issn.1003-9406.2015.01.021.

DOI:10.3760/cma.j.issn.1003-9406.2015.01.021

PMID:25636110

Abstract

OBJECTIVE

To investigate the cystathione beta synthase (CBS) gene T833C, G919A, 844ins68 polymorphisms and plasma homocysteine (Hcy) levels in ethnic Uyghur and Han patients with essential hypertension (EH) in Xinjiang.

METHODS

Four hundred twenty nine cases including 211 Uyghur and 218 Han EH patients were recruited, whilst 410 healthy individuals including 210 Uyghurs and 200 Hans were used as the controls. Amplification refractory mutation system (ARMS) was adopted to analyze the CBS gene polymorphisms including T833C, G919A and 844ins68. Enzymoimmunoassay was applied to determine the plasma level of Hcy. Chemiluminescence was applied to determine the plasma folic acid and vitamin B12.

RESULTS

Compared with the controls, the plasma Hcy level was significantly higher in the EH group in both ethnic Uyghurs and Hans (P < 0.05). Plasma levels of Hcy in T833C, G919A genotypes (for both heterozygotes and homozygotes) were statistically higher than wild types (P < 0.05). A significant difference was detected in G919A polymorphism between the EH patients and controls in both Uyghur and [CM(144.5mm] Han ethnics (Uyghur: x² = 10.264, P < 0.01; Han: x² = 23.075, P < 0.01), and in T833C between the EH patients and controls in ethnic Uyghurs (x² = 40.254, P < 0.01). Logistic regression analysis indicated that age (OR=1.151, P=0.047, 95% CI = 1.002-1.323), T833C (CC) (OR = 1.078, P = 0.003, 95% CI = 1.043-1.114), obesity (OR = 1.284, P = 0.021, 95% CI = 1.038-1.590), hyperhomocysteine (OR = 3.296, P = 0.016, 95% CI = 1.244-8.733) were independent risk factors for EH among ethnic Uygurs, while age (OR = 1.162, P = 0.007, 95% CI = 1.042-1.297), obesity (OR = 3.501, P = 0.003, 95% CI = 1.521-8.060), hyperhomocysteine (OR = 1.046, P = 0.031, 95% CI = 1.011-1.459) were independent risk factors for EH in ethnic Hans after adjusting for confounding factors.

CONCLUSION

Plasma level of Hcy is associated with ethnic Uyghur and Han patients with EH in Xinjiang. CBS gene T833C CC genotype may be associated with the EH among Uyghur ethnics.

摘要

目的

探讨新疆维吾尔族和汉族原发性高血压（EH）患者中胱硫醚β合酶（CBS）基因T833C、G919A、844ins68多态性及血浆同型半胱氨酸（Hcy）水平。

方法

招募429例患者，其中维吾尔族EH患者211例，汉族EH患者218例，同时选取410例健康个体作为对照，其中维吾尔族210例，汉族200例。采用扩增阻滞突变系统（ARMS）分析CBS基因T833C、G919A和844ins68多态性。采用酶免疫法测定血浆Hcy水平。采用化学发光法测定血浆叶酸和维生素B12水平。

结果

与对照组相比，维吾尔族和汉族EH组患者血浆Hcy水平均显著升高（P<0.05）。T833C、G919A基因型（杂合子和纯合子）的血浆Hcy水平均高于野生型（P<0.05）。维吾尔族和汉族EH患者与对照组之间G919A多态性存在显著差异（维吾尔族：x²=10.264，P<0.01；汉族：x²=23.075，P<0.01），维吾尔族EH患者与对照组之间T833C多态性存在显著差异（x²=40.254，P<0.01）。Logistic回归分析显示，校正混杂因素后，年龄（OR=1.151，P=0.047，95%CI=1.002-1.323）、T833C（CC）（OR=1.078，P=0.003，95%CI=1.043-1.114）、肥胖（OR=1.284，P=0.021，95%CI=1.038-1.５90）、高同型半胱氨酸血症（OR=3.296，P=0.016，95%CI=1.244-8.733）是维吾尔族EH的独立危险因素；年龄（OR=1.162，P=0.007，95%CI=1.042-1.297）、肥胖（OR=3.501，P=0.003，95%CI=1.521-8.060）、高同型半胱氨酸血症（OR=1.046，P=0.031，95%CI=1.011-1.459）是汉族EH的独立危险因素。