Abstract
Background: Aldosterone synthesized by aldosterone synthase plays an imperative role in Renin-Angiotensin-Aldosterone System (RAAS). Evidence suggested that aldosterone synthase gene (CYP11B2) variants are associated with the Essential Hypertension (EH). 
Objective: The aim of the present study was to determine the association of -344T/C and -470C/T Single Nucleotide Polymorphisms (SNPs) of the CYP11B2 and their resulted haplotypes with EH and Plasma Aldosterone Concentration (PAC) in southern population of Iran. 
Methods: In this matched case-control study performed on southern Iranians, 45 patients with EH as well as 43 age- and sex-matched normotensive subjects were registered from September 2017 to September 2018. All the individuals were screened by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) for CYP11B2 related genotypes and haplotypes; PAC was also measured. The gathered data were then analyzed using SPSS16 software by the independent-samples t-test and chi-square test.  Deviations of genotype frequencies from Hardy-Weinberg Equilibrium (HWE) and differences between allele frequencies and genotype distributions were calculated by Chi-square test. For performing haplotype analysis and pairwise Linkage Disequilibrium (LD) among the genotypes, SNP analyzer version 2 software and SHEsis online server were utilized. The association of PAC with each one of the polymorphisms and haplotypes was also analyzed by multinomial logistic regression.
Results: There was no association among -344T/C and -470C/T variants and the susceptibility to EH (p=0.53, OR=0.72 and p=0.27, OR=1.69, respectively). Haplotype analysis has also found no association with the disease (CT: p=0.43, OR=1.26; TC: p=0.68, OR=0.88; and TT: p=0.56, OR=0.77). On the other hand, although -344T/C and -470C/T polymorphisms showed no association with PAC (p=0.97, OR=1.00 and p=0.70, OR=0.98, respectively), a significant relationship was found between the H3 haplotype (TT) and PAC (p=0.039, OR=1.29). 
Conclusion: Our findings indicated that TT, as the two-single-nucleotide polymorphism haplotype in promoter region of CYP11B2 gene, is associated with plasma aldosterone concentration in the southern population of Iran. So, these people are likely to be at higher risk of cardiovascular or kidney disease compared to the other investigated haplotypes.
 
Keywords: CYP11B2, Genetic polymorphism, Haplotype, PAC

 

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