Association Study Of Renin Gene Polymorphisms And Essential Hypertension

Objective: To screen coding region of human renin gene to find new polymorphisms and investigate whether there are associations between new polymorphisms of renin gene and essential hypertension(EH).Method: Using the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) method, we isolated 1) A single nucleotide polymorphism (SNP) in intron 4 (T+17int4G); 2) a variable number of tandem repeat (VNTR) polymorphism in intron 7, the alleles varied in size from 7 to 12 repeats of nucleotides (TCTG); 3) A missense mutation in exon 9 (G1051A). We performed an association study using these polymorphisms in 212 hypertensive patients and 209 age-matched tiormotensive (NT) subjects.Result: distribution of genotype frequency VNTR and T+17int4G were not significantly different in the two groups. While, the overall distribution of G1051A was significant different between EH and NT. Haplotype analysis revealed that the overall distribution of haplotypes were significantly different between the two groups. The PRA level of G/G genotype is higher than that of A/A or G/A.Conclusion: T+17int4GSNP and VNTR in intron7 are not associated with EH. The missense mutation in exon9 may affect the enzymatical function of renin and subsequently is related with hypertension. The SNP G1051A in exon9 has an effect to change PRA. Perhaps this SNP influences the enzyme activity of renin protein.