CYP11B2 gene haplotypes independently and in concurrence with aldosterone and aldosterone to renin ratio increase the risk of hypertension.
OBJECTIVE
Aldosterone synthase produces aldosterone, which regulates electrolytes and thereby blood pressure. Polymorphisms in aldosterone-synthase gene (CYP11B2) may associate with heterogeneous aldosterone production and hypertension. Hence, we investigated -344T/C, Iw/Ic polymorphisms of CYP11B2, plasma renin activity (PRA) and aldosterone concentration (PAC).


METHODS
Consecutive ethnically-matched 450 hypertensive patients and 360 controls were screened by PCR-RFLP for genotypes and haplotypes; PRA and PAC were measured.


RESULTS
The Iw/Ic polymorphism distribution differed significantly between the two groups (LRT chi(2)=15.8, df=2, P=0.000). The mutant allele-Ic and genotype-Ic/Ic were overrepresented in patients (35% versus 27% and 13% versus 7%). Overrepresentation of T-Ic haplotype in patients was identified as risk haplotype (P=0.000). Patients had significantly higher PAC and aldosterone-to-renin ratio (ARR; P=0.000), which was Ic-allele dependent.


CONCLUSIONS
The haplotype T-Ic associated with hypertension susceptibility. Correlation between Ic-allele and raised ARR likely serve in hypertension management.
Institute of Genomics and Integrative Biology, Mall Road, Delhi 110 007, India.
Azim
A
Nejatizadeh
Rahul
R
Kumar
Tsering
T
Stobdan
A K
AK
Goyal
Mohit
M
Gupta
S
S
Tyagi
S K
SK
Jain
M A Qadar
MA
Pasha
D000328:Adult; D000368:Aged; D000450:Aldosterone / Q000097:blood*; D019405:Cytochrome P-450 CYP11B2 / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D006973:Hypertension / Q000097:blood / Q000235:genetics; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012083:Renin / Q000097:blood*
D000450:Aldosterone; D019405:Cytochrome P-450 CYP11B2; D012083:Renin