Key result
The AT1R A1166C gene polymorphism was significantly associated with essential hypertension, with the AC and CC genotypes conferring 2.4 times higher odds of the disease compared to the AA genotype.
Why the study?
Is the A1166C polymorphism of the AT1R gene associated with an increased risk of essential hypertension?
Case-Control (n=500)
No
Is the A1166C polymorphism of the AT1R gene associated with an increased risk of essential hypertension?
Effect estimate: OR 2.4 (95% CI 1.65-3.50)
p-value: p=<0.0001
The C allele of the A1166C polymorphism in the AT1R gene is significantly associated with essential hypertension and its upregulation in a Northern Indian population.
Does not support routine AT1R genotyping for hypertension management; extends case-control evidence but leaves validation to prospective studies.
OBJECTIVES: 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. METHODS: We analyzed the A1166C polymorphism and expression of AT1R gene in 250 patients with essential hypertension and 250 normal healthy controls. RESULTS: 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). CONCLUSION: 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.
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Chandra et al. (2014) conducted a case-control in Essential Hypertension (n=500). AT1R A1166C gene polymorphism (AC + CC genotypes) vs. AA genotype was evaluated on Essential hypertension (OR 2.4, 95% CI 1.65-3.50, p=<0.0001). The AT1R A1166C gene polymorphism was significantly associated with essential hypertension, with the AC and CC genotypes conferring 2.4 times higher odds of the disease compared to the AA genotype.
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