ACE I/D and G2350A polymorphisms in Pakistani hypertensive population of Punjab.

Several studies in different populations have shown mixed association of hypertension with ACE I/D and G2350A polymorphisms. To assess the link of these two polymorphisms with hypertension in population of Punjab--most populated province of Pakistan--we carried out this retrospective case control study in a mixed sample of 344 hypertensive and normotensive controls. Genotype of the ACE I/D was determined by nested PCR and G2350A. polymorphism was determined by amplification of a small fragment containing SNP and digesting it with the restriction enzyme. Statistical analysis revealed that I/D polymorphism is not associated with hypertension in the Punjabi population chi(2) (df = 2) = 5.611, P <or= 0.10. Overall, D allele frequency was 0.43 and I allele frequency was 0.57. The G2350A polymorphism was found to be significantly associated with hypertension chi(2) (2df, chi(2) = 28.4, P <or= 0.001). The G allele frequency (0.77) in our population was higher than previously reported. A combination of the AA and DD genotype seems to be linked with higher than average blood pressure level both in hypertensive and control groups. Our data suggests that the ACE I/D polymorphism is not associated with hypertension but the G2350A polymorphism is associated with hypertension in the Punjabi population.