Basic Res Cardiol 101:479–484 (2006) DOI 10.1007/s00395-006-0601-8 Received: 27 March 2006 Returned for 1. revision: 3 May 2006 1. Revision received: 9 May 2006 Accepted: 10 May 2006 Published online: 16 June 2006 Prof. Dr. T. Eschenhagen, Hamburg, Germany, served as guest editor for the manuscript and was responsible for all editorial decisions, including the selection of reviewers. This policy applies to all manuscripts with authors from the editor’s institution. Kirsten Leineweber and Gero Tenderich contributed equally to this work. K. Leineweber · Ch.Wolf · Th. Philipp · G. Heusch · O.-E. Brodde, PhD () Departments of Pathophysiology and Nephrology University of Essen School of Medicine Hufelandstr. 55 45147 Essen, Germany Tel.: +49-201/723-4467 Fax: +49-201/723-5963 E-Mail: otto-erich.brodde@uni-essen.de G. Tenderich · A. Zittermann · R. Körfer Heart and Diabetes Center Ruhr-University of Bochum 32545 Bad Oeynhausen, Germany ■ Abstract Objective The Thr164Ile-β 2 -adrenoceptor (AR) polymorphism exhibits lower affinities for catecholamines and reduced basal and agonist- stimulated adenylyl cyclase activity in vitro. It has been suggested that pa- tients with chronic heart failure (CHF) due to ischemic or dilated cardiomy- opathy carrying the Thr164Ile-β 2 AR polymorphism exhibit much more rapid progression to death or heart transplantation (HTX) than CHF-pa- tients carrying the homozygous Thr164-β 2 AR. This study aimed to further evaluate the role of the Thr164Ile-β 2 AR in CHF.For this we hypothesized that the Thr164Ile-β 2 AR variant should be more abundant in HTX-patients than in patients with stable CHF or healthy controls. Methods and Results We genotyped 309 HTX-patients, 520 stable CHF-patients and 328 healthy con- trols for the three β 2 AR variants Arg16Gly, Gln27Glu and Thr164Ile. The prevalence of the Thr164Ile-β 2 AR variant was not considerably different in HTX-patients (2.3%) from that in CHF-patients (1.9%) or healthy controls (2.1%). Similarly, the frequency of the minor Ile164-allele was f [–]= 0.0106 in HTX-patients, f [–]= 0.0096 in CHF-patients and f [–]= 0.0113 in healthy controls. Conclusions The prevalence of the hypofunctional Thr164Ile-β 2 AR variant and the frequency of the Ile164-allele were almost identical in CHF- patients, who had undergone HTX, with those in patients with stable CHF or in healthy controls. Thus, the role of the Thr164Ile-β 2 AR in CHF remains questionable. ■ Key words β 2 -adrenoceptor polymorphisms – genotype – haplotype – heart failure – heart transplantation ORIGINAL CONTRIBUTION Kirsten Leineweber Gero Tenderich Christina Wolf Sören Wagner Armin Zittermann Miriam Elter-Schulz Reiner Moog Norbert Müller Heinz-Günther Jakob Reiner Körfer Thomas Philipp Gerd Heusch Otto-Erich Brodde Is there a role of the Thr164Ile-β 2 -adrenoceptor polymorphism for the outcome of chronic heart failure? Introduction β 2 -adrenoceptors (AR) play an important role in the reg- ulation of vascular and bronchial smooth muscle tone [14]. They also exist in the human heart and contribute to the regulation of heart rate and contractility [4]. In the β 2 AR gene, there are at least three functionally im- portant single nucleotide polymorphisms (SNP) which result in amino acid exchanges: Arg16Gly,Gln27Glu and BRC 601 S.Wagner · H.-G. Jakob Clinic for Cardio-Thoracic-Surgery University of Essen School of Medicine 45147 Essen, Germany M. Elter-Schulz · R. Moog · N. Müller Institute for Transfusion Medicine University of Essen School of Medicine 45147 Essen, Germany