title: Characterization of polymorphisms in the promoter of the human angiotensin II subtype 1 (AT1) receptor gene.
abstract: 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.
authors.affiliation: Department of Internal Medicine and Cardiology, Humboldt University, Germany. jeanette.erdmann@charite.de
authors.forename: J
authors.initials: J
authors.lastname: Erdmann
authors.forename: K
authors.initials: K
authors.lastname: Riedel
authors.forename: K
authors.initials: K
authors.lastname: Rohde
authors.forename: I
authors.initials: I
authors.lastname: Folgmann
authors.forename: T
authors.initials: T
authors.lastname: Wienker
authors.forename: E
authors.initials: E
authors.lastname: Fleck
authors.forename: V
authors.initials: V
authors.lastname: Regitz-Zagrosek
mesh_terms: D001483:Base Sequence; D002318:Cardiovascular Diseases / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D019143:Evolution, Molecular; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic; D044140:Receptor, Angiotensin, Type 1; D044139:Receptor, Angiotensin, Type 2; D011945:Receptors, Angiotensin / Q000235:genetics*
chemical_list: D017931:DNA Primers; D044140:Receptor, Angiotensin, Type 1; D044139:Receptor, Angiotensin, Type 2; D011945:Receptors, Angiotensin