[新疆哈萨克族血管紧张素原基因5'上游核心启动子A(-6)G和A(-20)C变异与原发性高血压的关系]

[The relationship between the variants in 5' upstream core promoter A(-6)G and A(-20)C of angiotensinogen gene and essential hypertension in Kazakans of Xinjiang].

作者信息

Li Nan-fang, Zhou Ling, Wu Wei-dong, Shi Yan, Wang Xin-ling, Wang Jun, Li Hong-jian, Zhang De-lian, Zu Here, Ouyang Wei-jin, Bu Ke-li, Zhou Ke-ming, Cheng Qiu-yan, Guli Nur, Zhu Deng-hao

机构信息

Hypertension Unit, the People's Hospital of the Xinjiang Uygur Autonomous Region, Urumuqi, Xinjiang, PR China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):23-8.

PMID:14767903

Abstract

OBJECTIVE

To investigate whether the variants A(-6)G and A(-20)C of angiotensinogen (AGT) gene are involved in the pathogenesis of essential hypertension in Kazakans.

METHODS

T his case control study recruited 125 subjects with hypertension and 74 normotensive subjects from Kazakans of Xinjiang. Genomic DNA from leukocytes was analyzed for genetic variants A(-6)G and A(-20)C in 5' upstream core promoter of AGT gene by polymerase chain reaction (PCR), single strand conformation polymorphism (SSCP), restriction fragment length polymorphism (RFLP) and automatic sequencing.

RESULTS

(1)There were only A(-6)G and A(-20)C variants in the -164 to +73 region of Kazakans' AGT gene. (2) The distributions of genotypes AA, AG, GG at locus -6 of AGT gene showed significant difference between the hypertensive group (0.39, 0.45, 0.16) and the normotensive group (0.49, 0.49, 0.02; Chi2=8.56, P=0.014). There were evident differences in the frequencies of the -6A and the -6G allele of the two groups (0.62, 0.38 and 0.73, 0.27; Chi2=5.35, P=0.021). (3) No significant difference was observed in the distribution of genotypes AA, AC, CC at locus -20 of AGT gene between the hypertensive group (0.69, 0.26, 0.05) and the normotensive group (0.65, 0.32, 0.03; Chi2=2.42, P=0.30). There was no distinct difference in the frequencies of the -20A allele and the -20C allele of the two groups (0.82, 0.18 and 0.82, 0.18; Chi2=0, P=0.99). (4) No significant difference was found at the levels of systolic and diastolic blood pressure between the groups corresponding to genotypes at the loci -6 and -20 of AGT gene.

CONCLUSION

The results suggest that the polymorphism of A(-6)G in 5' upstream core promoter of the AGT gene may be involved in the pathogenesis of essential hypertension in Kazakans, while the A(-20)C variant may not play an important role in the etiology of essential hypertension in Kazakans.

摘要

目的

研究血管紧张素原（AGT）基因A（-6）G和A（-20）C变异是否参与哈萨克族原发性高血压的发病机制。

方法

本病例对照研究选取了新疆哈萨克族的125例高血压患者和74例血压正常者。采用聚合酶链反应（PCR）、单链构象多态性（SSCP）、限制性片段长度多态性（RFLP）及自动测序技术，分析白细胞基因组DNA中AGT基因5'上游核心启动子区域的A（-6）G和A（-20）C基因变异。

结果

（1）哈萨克族AGT基因-164至+73区域仅存在A（-6）G和A（-20）C变异。（2）AGT基因-6位点基因型AA、AG、GG在高血压组（0.39，0.45，0.16）与血压正常组（0.49，0.49，0.02；χ2 = 8.56，P = 0.014）之间分布有显著差异。两组-6A和-6G等位基因频率存在明显差异（0.62，0.38和0.73，0.27；χ2 = 5.35，P = 0.021）。（3）AGT基因-20位点基因型AA、AC、CC在高血压组（0.69，0.26，0.05）与血压正常组（0.65，0.32，0.03；χ2 = 2.42，P = 0.30）之间分布无显著差异。两组-20A和-20C等位基因频率无明显差异（0.82，0.18和0.82，0.18；χ2 = 0，P = 0.99）。（4）AGT基因-6和-20位点对应基因型组间收缩压和舒张压水平无显著差异。