Human 2 -adrenergic receptor gene haplotypes and venodilation in vivo Background and Objective: 2 -Adrenergic receptors ( 2 -ARs) are polymorphic. In vitro studies have shown that agonist-promoted down-regulation is enhanced for Arg16Gly and blunted for Gln27Glu 2 -AR vari- ants; Thr164Ile 2 -ARs exhibit reduced responsiveness to agonist stimulation. Our objective was to deter- mine whether 2 -AR polymorphisms affect 2 -AR–mediated venodilation in healthy subjects in vivo. Methods: We studied dilation of phenylephrine-preconstricted dorsal hand veins induced by terbutaline (50-1000 ng/min) using the Aellig hand vein technique in subjects homozygous for the 3 most common 2 -AR haplotypes (group A, Arg16Gln27Thr164 [wild type (WT)] [n 10]; group B, Gly16Gln27Thr164 [n 8]; and group C, Gly16Glu27Thr164 [n 9]) and in 8 subjects heterozygous for Thr164Ile 2 -AR (group D) at baseline and after 2 weeks of treatment with oral terbutaline, 5 mg 3 times daily. Results: Terbutaline dose-dependently dilated hand veins; sensitivity to terbutaline was 2-fold higher in haplotype group A versus group B or C; maximal dilation, however, was not haplotype-dependent. In Thr164Ile subjects terbutaline sensitivity but not maximal dilation was 4-fold lower than in WT subjects. Long-term terbutaline treatment desensitized venous 2 -AR in a haplotype-dependent manner: The extent of desensitization (reduction in maximal venodilation) was largest for haplotype A, modest for haplotype B, and almost absent for haplotype C. Long-term terbutaline treatment also desensitized venous Thr164Ile 2 -AR; after terbutaline treatment, dose-response curves for terbutaline-induced venodilation were superimposable in WT and Thr164Ile 2 -AR subjects. Conclusion: 2 -AR–mediated dilation of human hand veins is influenced by the 3 most common 2 -AR haplotypes and blunted in subjects heterozygous for Thr164Ile 2 -AR. Long-term terbutaline treatment desensitizes venous 2 -AR in a haplotype-dependent manner, with haplotype A (Arg16Gln27Thr164) show- ing greater desensitization than haplotype B (Gly16Gln27Thr164), which shows greater desensitization than haplotype C (Gly16Glu27Thr164). (Clin Pharmacol Ther 2005;78:232-8.) Heike Bruck, MD, Kirsten Leineweber, PhD, Jinny Park, BSc, Melanie Weber, Gerd Heusch, MD, Thomas Philipp, MD, and Otto-Erich Brodde, PhD Essen, Germany 2 -Adrenergic receptors ( 2 -ARs) play an important role in the regulation of vascular and bronchial smooth muscle tone, 1 glands, lymphocytes, and hepatocytes. They also exist in the human heart and contribute to the regulation of heart rate and contractility. 2 2 -ARs are polymorphic; at least 3 functionally important single- nucleotide polymorphisms have been described— Arg16Gly, Gln27Glu, and Thr164Ile. 3-5 In vitro, func- tional properties of Gly16 and Glu27 2 -AR variants do not differ from those of wild-type (WT) 2 -AR (Arg16Gln27Thr164). 6 In contrast, the Ile164 2 -AR variant exhibited extensive signaling defects. 7 Thus isoproterenol hydrochloride (INN, isoprenaline), epi- nephrine, and norepinephrine had a 4-fold lower affin- ity for Ile164 2 -AR transfected in Chinese hamster fibroblasts (CHW) cells than for WT 2 -AR. Moreover, the Ile164 variant exhibits reduced basal and agonist- induced activation of adenylyl cyclase and a rightward shift of the agonist concentration-effect curve, suggest- ing a diminished 2 -AR–G protein interaction. 7 In vivo, in humans heterozygous for Thr164Ile 2 -AR (homozygous Ile164 variants are not found in the hu- man population 3-5 ), cardiac and venous 2 -AR re- sponses were blunted compared with responses in sub- jects carrying homozygous Thr164. 8-10 From the Departments of Nephrology and Pathophysiology, Univer- sity of Essen Medical School. Supported by grants from the Nationales Genomforschungsnetz- Förderzeichen (01GS0170) and from the Deutsche Forschungsge- meinschaft (DFG BR 526/8-1 to Dr Brodde). Received for publication March 2, 2005; accepted June 2, 2005. Reprint requests: Otto-Erich Brodde, PhD, University of Essen Med- ical School, Departments of Nephrology and Pathophysiology, Hufelandstrasse 55, D-45147 Essen, Germany. E-mail: otto-erich.brodde@uni-essen.de 0009-9236/$30.00 Copyright © 2005 by the American Society for Clinical Pharmacology and Therapeutics. doi:10.1016/j.clpt.2005.06.002 232