Association of angiotensin II type 1 receptor (A1166C) gene polymorphism and its increased expression in essential hypertension: a case-control study.

Association of angiotensin II type 1 receptor (A1166C) gene polymorphism and its increased expression in essential hypertension: a case-control study.
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血管紧张素II型1型受体(A1166C)基因多态性及其在基本高血压中的表达增加:病例对照研究。

DOI:
10.1371/journal.pone.0101502
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发表时间:
2014
期刊:
影响因子:
3.7
通讯作者:
Srivastava K
Srivastava K
中科院分区:
综合性期刊3区
文献类型:
--
作者:
Chandra S;Narang R;Sreenivas V;Bhatia J;Saluja D;Srivastava K

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高血压是主要的心血管疾病之一。它影响了全世界近15.6亿人。本研究是关于北印度人群中血管紧张素II型受体(AT1R) (SNP ID: rs5186)的特定遗传多态性(A1166C)、基因表达和蛋白表达及其与原发性高血压的关系。我们分析了250例原发性高血压患者和250例正常健康对照者的A1166C多态性和AT1R基因的表达。AT1R基因型(AC+CC)与原发性高血压有显著相关性(χ2 = 22.48, p = 0.0001)。CC基因型个体发生原发性高血压的几率是AC和AA基因型个体的2.4倍(p = 0.0001)。CC型患者收缩压(169.4±36.3 mmHg)高于AA型(143.5±28.1 mmHg)和AC型(153.9±30.5 mmHg),差异有统计学意义(p = 0.0001)。我们发现平均delta-CT值有显著差异(p = 0.0001),其中与对照组相比,患者的基因表达上调(约16倍)。此外,CC基因型患者的AT1R基因表达高于AC和AA基因型患者。患者血浆中血管紧张素II型1受体蛋白表达(1.49±0.27)与对照组(0.80±0.24)差异有统计学意义(p = 0.0001)。我们的研究结果提示血管紧张素II型1受体基因A1166C多态性的C等位基因与原发性高血压有关,其上调可能在原发性高血压中起重要作用。
Hypertension is one of the major cardiovascular diseases. It affects nearly 1.56 billion people worldwide. The present study is about a particular genetic polymorphism (A1166C), gene expression and protein expression of the angiotensin II type I receptor (AT1R) (SNP ID: rs5186) and its association with essential hypertension in a Northern Indian population. We analyzed the A1166C polymorphism and expression of AT1R gene in 250 patients with essential hypertension and 250 normal healthy controls. A significant association was found in the AT1R genotypes (AC+CC) with essential hypertension (χ2 = 22.48, p = 0.0001). Individuals with CC genotypes were at 2.4 times higher odds (p = 0.0001) to develop essential hypertension than individuals with AC and AA genotypes. The statistically significant intergenotypic variation in the systolic blood pressure was found higher in the patients with CC (169.4±36.3 mmHg) as compared to that of AA (143.5±28.1 mmHg) and AC (153.9±30.5 mmHg) genotypes (p = 0.0001). We found a significant difference in the average delta-CT value (p = 0.0001) wherein an upregulated gene expression (approximately 16 fold) was observed in case of patients as compared to controls. Furthermore, higher expression of AT1R gene was observed in patients with CC genotype than with AC and AA genotypes. A significant difference (p = 0.0001) in the protein expression of angiotensin II Type 1 receptor was also observed in the plasma of patients (1.49±0.27) as compared to controls (0.80±0.24). Our findings suggest that C allele of A1166C polymorphism in the angiotensin II type 1 receptor gene is associated with essential hypertension and its upregulation could play an important role in essential hypertension.
DOI: 10.1038/ajh.2010.211
发表时间: 2011-02-01
影响因子: 3.2
作者:
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影响因子: 4.8
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