SHORT COMMUNICATION Samia Akhtar Nikos G. Gavalas David J. Gawkrodger Philip F. Watson Anthony P. Weetman E. Helen Kemp An insertion/deletion polymorphism in the gene encoding angiotensin converting enzyme is not associated with generalised vitiligo in an English population Received: 8 March 2005 / Accepted: 23 June 2005 / Published online: 26 July 2005 Ó Springer-Verlag 2005 Abstract Vitiligo is an acquired hypomelanotic skin disorder characterised by circumscribed depigmented macules resulting from the loss of functional melano- cytes from the cutaneous epidermis and autoimmunity has been suggested to play a role in the pathogenesis of the disease. Recently, an insertion/deletion (I/D) poly- morphism of a 287-base pair repetitive sequence in in- tron 16 of the angiotensin converting enzyme (ACE) gene has been associated with autoimmune disease and with the development of vitiligo. In this study, the dis- tribution of ACE gene I/D genotypes was investigated in a population of 106 English patients with generalised (non-segmental) vitiligo and 174 ethnically matched healthy controls using a restriction fragment length polymorphism-polymerase chain reaction genotyping method. No significant difference in the frequencies of II, ID and DD genotypes was detected between vitiligo patients and control subjects (P=0.35). The same result was evident for the genotype distribution in vitiligo pa- tients with an autoimmune disease and for those without when compared with controls (P=0.33 and P=0.53, respectively). In addition, the results indicated that the D allele was not significantly over-represented in the group of patients with vitiligo compared with controls (P=0.42) and that this was also the case for patients with and without associated autoimmunity (P=0.40 and P=0.62, respectively). Keywords Angiotensin converting enzyme Autoimmunity Genetic susceptibility Melanocyte Gene polymorphism Vitiligo Introduction Vitiligo is an acquired depigmentary disorder charac- terised by the appearance of white patches resulting from the loss of functional melanocytes and melanin from the skin. The prevalence of vitiligo is 0.1–2.0% in various populations worldwide [9]. Although the aeti- ology of vitiligo remains obscure, autoimmunity has been suggested to play a role in the pathogenesis of the disease. Support for this theory arises from the frequent association of vitiligo with autoimmune disorders [22] and the demonstration of autoantibodies to melanoso- mal proteins in the serum of patients with the disease [2, 5, 12, 33]. More recently, autoreactive cytotoxic T lym- phocytes (CTLs), which specifically recognise melano- cyte differentiation antigens, have been detected in both the peripheral blood and perilesional skin of individuals with vitiligo [15, 23, 26]. Genetic factors may also have a role in vitiligo sus- ceptibility: familial aggregation of vitiligo is common with 20% of vitiligo patients having at least one first-degree relative who is also affected with the disease [3]. However, the inheritance of vitiligo is not consistent with single lo- cus Mendelian transmission, and it has been proposed that genes at different loci contribute to the pathogenesis of the disorder [17, 20]. Several genes that have a role in regulating immunity have been associated with suscepti- bility to vitiligo including: allelic variants in the cytotoxic T lymphocyte antigen-4 gene (CTLA-4)[4, 13, 18], the autoimmune susceptibility loci AIS1, AIS2,AIS3and SLEV1 [1, 7, 34], the autoimmune regulator (AIRE) gene [19] and certain human leukocyte antigen specificities of the major histocompatibility complex [35, 39]. Angiotensin converting enzyme (ACE) is an impor- tant regulator of the rennin–angiotensin system and its main function is to control blood pressure [10]. An S. Akhtar N. G. Gavalas P. F. Watson A. P. Weetman E. H. Kemp (&) Division of Clinical Sciences (North), University of Sheffield, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK E-mail: e.h.kemp@sheffield.ac.uk Tel.: +44-114-2714910 Fax: +44-114-2560458 D. J. Gawkrodger Department of Dermatology, Royal Hallamshire Hospital, Sheffield, S10 2JF, UK Arch Dermatol Res (2005) 297: 94–98 DOI 10.1007/s00403-005-0585-5