title: Association of angiotensin II type 1 receptor (A1166C) gene polymorphism and its increased expression in essential hypertension: a case-control study.
abstract: OBJECTIVE
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Dr. B R Ambedkar Centre for Biomedical Research, University of Delhi, Delhi, India.
authors.forename: Sudhir
authors.initials: S
authors.lastname: Chandra
authors.affiliation: Department of Cardiology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Rajiv
authors.initials: R
authors.lastname: Narang
authors.affiliation: Department of Biostatistics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Vishnubhatla
authors.initials: V
authors.lastname: Sreenivas
authors.affiliation: Department of Pharmacology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Jagriti
authors.initials: J
authors.lastname: Bhatia
authors.affiliation: Dr. B R Ambedkar Centre for Biomedical Research, University of Delhi, Delhi, India.
authors.forename: Daman
authors.initials: D
authors.lastname: Saluja
authors.affiliation: Dr. B R Ambedkar Centre for Biomedical Research, University of Delhi, Delhi, India.
authors.forename: Kamna
authors.initials: K
authors.lastname: Srivastava
mesh_terms: D000328:Adult; D000483:Alleles; D001794:Blood Pressure; D016022:Case-Control Studies; D000075222:Essential Hypertension; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D044140:Receptor, Angiotensin, Type 1 / Q000235:genetics* / Q000378:metabolism; D015854:Up-Regulation
chemical_list: D044140:Receptor, Angiotensin, Type 1