The identification of polymorphic sites in the functional promoter of the human AT1 locus provides a basis for studying its role in hypertension and cardiovascular diseases.
Does not support changing hypertension management; leaves open the variants' role in cardiovascular disease susceptibility.
In this study eight sequence variants in the functional promoter of the human angiotensin II subtype 1 (AT1 or AGTR1) receptor gene are reported. Six of these variants are in nearly total linkage disequilibrium with each other and occur with a frequency of 15.7%. By haplotype estimation this group of eight sequence variants is characterized by only five haplotypes. There is no linkage disequilibrium between one of these haplotypes and the AT1 + 1166A/C variant. The finding of polymorphic sites in the functional promoter of the human AT1 locus will be beneficial to the study of the role of the AT1 receptor gene in hypertension and other cardiovascular diseases.
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Erdmann et al. (1999) studied this question.
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