Exp Physiol 92.5 pp 881–886 881 Experimental Physiology The ACE deletion allele is associated with Israeli elite endurance athletes Offer Amir 1 , Ruthie Amir 2 , Chen Yamin 1 , Eric Attias 1 , Nir Eynon 1 , Moran Sagiv 1 , Michael Sagiv 1 and Yoav Meckel 1 1 Department of Cardiology, Lady Davis Carmel Medical Center, Haifa, Israel 2 Department of Genetics and Molecular Biology, the Zinman College of Physical Education and Sport Sciences at the Wingate Institiute, Netantya, Israel An Alu insertion (I )/deletion (D) polymorphism in the angiotensin I converting enzyme (ACE ) gene has been associated with ACE activity. Opposing effects on elite athletic performance have been proposed for the I and D alleles; while the D allele favours improved endurance ability, the I allele promotes more power-orientated events. We tested this hypothesis by determining the frequency of ACE ID alleles amongst 121 Israeli top-level athletes classified by their sporting discipline (marathon runners or sprinters). Genotyping for ACE ID was performed using polymerase chain reaction on DNA from leucocytes. The ACE genotype and allele frequencies were compared with those of 247 healthy individuals. Allele and genotype frequencies differed significantly between the groups. The frequency of the D allele was 0.77 in the marathon runners, 0.66 in the control subjects (P = 0.01) and 0.57 in the sprinters (P = 0.002). The ACE DD genotype was more prevalent among the endurance athletes (0.62) than among the control subjects (0.43, P = 0.004) and the power athletes (0.34, P = 0.004). In the group of elite athletes, the odds ratio of ACE DD genotype being an endurance athlete was 3.26 (95% confidence interval 1.49–7.11), and of ACE II genotype was 0.41 (95% confidence interval 0.14–1.19). We conclude that in Israeli elite marathon runners the frequency of the ACE D allele and ACE DD genotype seems to be higher than in sprinters, suggesting a positive association between the D allele and the likelihood of being an elite endurance athlete in some ethnic groups. (Received 29 May 2007; accepted after revision 5 July 2007; first published online 13 July 2007) Corresponding author O. Amir: Heart Failure Service, Lin Medical Center, Department of Cardiology, Lady Davis Carmel Medical Center, Michal 7 Street, Haifa, Israel. Email: ruthieam@012.net.il In sports science, it is well recognized that the acquirement of elite performance status involves the interaction between multiple genetic and environmental factors (Myburgh, 2003). The mechanisms which regulate the development of sustained high-level athletic ability have been extensively studied, but their genetic association is poorly understood. Furthermore, it is still unknown whether different genetic elements play a role in athletes’ ability to create their area of specificity. Success in endurance sports requires high-level aerobic or cardiorespiratory fitness, often represented by maximal oxygen uptake ( ˙ V O 2 max ) and endurance levels. Conversely, short-distance sprint and power events are more likely to depend on anaerobic activity and muscular speed. These two major sports disciplines involve different types of muscle metabolism. Sprint and power events require predominantly anaerobic or power-generating muscle metabolism, while endurance events depend on aerobic metabolism. It is therefore uncommon to identify an athlete who excels in 100 m sprint as well as in the 10 000 m running events, for example. In fact, elite sprinters are likely to perform poorly in endurance events and vice versa (Tesh & Karlsson, 1985). The renin–angiotensin system (RAS) plays an important role in human body fluid homeostasis and left ventricular remodelling. Angiotensin converting enzyme (ACE) is a key component in the RAS system, generating the vasoconstrictor angiotensin II (Ang II) and degrading vasodilator kinins (reviewed by Coates, 2003). Angiotensin converting enzyme is widely expressed in human tissues, including skeletal muscle, and may play a metabolic role during exercise (Jones & Woods, 2003). Angiotensin II, the predominant biological product of the RAS, has known effects on metabolism (Brink et al. C  2007 The Authors. Journal compilation C  2007 The Physiological Society DOI: 10.1113/expphysiol.2007.038711