Characterization of polymorphisms in the promoter of the human angiotensinII subtype 1 (AT1) receptor gene

In this study eight sequence variants in the functional promoter of the hum an angiotensin II subtype 1 (AT1 or AGTR1) receptor gene are reported. Six of these variants are in nearly total linkage disequilibrium with each othe r and occur with a frequency of 15.7 %. By haplotype estimation this group of eight sequence variants is characterized by only fire 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 promote r of the human 4T1 locus will be beneficial to the study of the role of the AT1 receptor gene in hypertension and other cardiovascular diseases.