Key result
The G1051A missense mutation in exon 9 of the renin gene was significantly associated with essential hypertension in a case-control study of 421 Japanese subjects.
Why the study?
Are polymorphisms in the human renin gene associated with essential hypertension in a Japanese population?
Case-Control (n=421)
Are polymorphisms in the human renin gene associated with essential hypertension in a Japanese population?
A missense mutation in exon 9 (G1051A) of the human renin gene is associated with essential hypertension and altered plasma renin activity in a Japanese population.
Should not change hypertension management; leaves open renin gene variants as contributors to essential hypertension in Japanese populations.
The human renin gene is an attractive candidate for involvement in the underlying cause of essential hypertension (EH). Despite extensive examination, the relation between the renin gene and hypertension remains unclear. The aims of the present study were to discover new genetic markers of EH and to investigate the relations between polymorphisms of the renin gene and EH in the Japanese. Using the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) method, we isolated 3 novel variants of the renin gene; a single nucleotide polymorphism (SNP) in intron 4 (T+17int4G), a variable number of tandem repeats (VNTR) polymorphism in intron 7, and a missense mutation in exon 9 (G1051A). We performed an association study with these polymorphisms in 212 patients with EH and 209 age-matched normotensive (NT) subjects. The frequency of genotypes VNTR and T+17int4G did not differ significantly between the 2 groups, whereas the overall distribution of G1051A was significantly different between EH and NT. Haplotype analysis revealed that the overall distribution of haplotypes differed significantly between the EH and NT groups. PRA levels in patients with EH with the G/G genotype were significantly higher than in subjects with EH with G/A and A/A genotypes. These data suggest that the missense mutation in exon 9 may affect the enzymatic function of renin and consequently may be involved in the etiology of hypertension.
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Hasimu et al. (2003) conducted a case-control in Essential hypertension (n=421). Renin gene polymorphisms (G1051A, T+17int4G, VNTR) vs. Normotensive subjects was evaluated on Distribution of renin gene polymorphisms and haplotypes. The G1051A missense mutation in exon 9 of the renin gene was significantly associated with essential hypertension in a case-control study of 421 Japanese subjects.
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