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.