Parasites still impose a high death and disability burden on human populations and are therefore likely to act as selective factors for genetic adaptations. Genetic epidemiology of parasitic diseases aims at disentangling the mechanisms underlying immunity and pathogenesis by looking for association or linkage between loci and susceptibility phenotypes. Until recently, most studies used a candidate gene approach and were relatively underpowered, with few attempts at replicating findings in different populations. However, in the last five years genome wide and/or multi-centre studies have been conducted for severe malaria, visceral leishmaniasis and cardiac chagas disease, providing some novel important insights. Furthermore, studies of helminth infections have repeatedly shown the involvement of common loci in regulating susceptibility to distinct diseases such as schistosomiasis, ascariasis, trichuriasis and onchocherciasis. As more studies are conducted, evidence is increasing that at least some of the identified susceptibility loci not only are shared among parasitic diseases but also with immunological disorders such as allergy or autoimmune disease, suggesting that parasites may have played a role in driving the evolution of the immune system.This article is protected by copyright. All rights reserved.