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Association of a polymorphism at the 5′‐region of the angiotensin II type 1 receptor with hypertension
Author(s) -
TAKAHASHI N.,
MURAKAMI H.,
KODAMA K.,
KASAGI F.,
YAMADA M.,
NISHISHITA T.,
INAGAMI T.
Publication year - 2000
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1046/j.1469-1809.2000.6430197.x
Subject(s) - allele , genetics , angiotensin ii , polymorphism (computer science) , renin–angiotensin system , polymerase chain reaction , essential hypertension , gene , angiotensin converting enzyme , biology , allele frequency , angiotensin receptor , medicine , endocrinology , receptor , blood pressure
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 / AT 1 ) 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 AT 1 gene were associated with essential hypertension. The study compared 149 hypertensive subjects to 156 normotensive control subjects. A significantly higher frequency of the AT 1 (−535)*T allele was observed in hypertensive subjects. Evidence was obtained that the AT 1 (−535)*T allele showed a synergistic effect on risk of hypertension with angiotensin I converting enzyme D allele ( ACE *D).