Association of a polymorphism at the 5′-region of the angiotensin II type 1 receptor with hypertension

Takahashi N, Murakami H, Kodama K, Kasagi F, Yamada M, Nishishita T, Inagami T
Ann Hum Genet 64:197-205, 2000

Summary

Molecular variants of individual components of the renin-angiotensin system are thought to contribute to inherited predisposition towards essential hypertension. Using polymerase chain reaction-denaturing gradient gel electrophoresis (PCR-DGGE) and sequence analysis, we identified seven polymorphisms in the 5′-flanking region of the angiotensin II type 1 receptor (AGTR1/AT1) gene. We conducted a case-control study in a sample from the Japanese population to determine whether polymorphic markers in the 5′-flanking region of the AT1 gene were associated with essential hypertension. The study compared 149 hypertensive subjects to 156 normotensive control subjects. A significantly higher frequency of the AT1(-535)*T allele was observed in hypertensive subjects. Evidence was obtained that the AT1(-535)*T allele showed a synergistic effect on risk of hypertension with angiotensin I converting enzyme D allele (ACE*D).