title: The Consequence of a Founder Effect: CCR5-∆32, CCR2-64I and SDF1-3'A Polymorphism in Vlach Gypsy Population in Hungary.
abstract: Frequencies of genetic polymorphisms of the three most frequent HIV-1 resistance-conferring alleles playing an important role in HIV-1 pathogenesis were analysed in Vlach Gypsy populations living in Hungary, as the largest minority. Mutations in the encoding genes, such as CCR5-∆32, CCR2-64I and SDF1-3'A are shown to result in protective effects against HIV-1 infection and disease progression. 560 samples collected from Vlach Gypsy individuals living in 6 North-East Hungarian settlements were genotyped by PCR-RFLP method. Overall allele frequencies of CCR5-∆32, CCR2-64I and SDF1-3'A were found as 0.122, 0.186 and 0.115 respectively. All the observed genotype frequencies were in accordance with Hardy-Weinberg equilibrium . In regions, however, Vlach Gypsies live in majority and in ethnically homogenous communities, a higher CCR5-∆32 mutations were found, with allele frequencies of 0.148 and 0.140 respectively, which are remarkably higher than those in general Hungarian people, and ten times higher than in regions of North-Western India from where present day Hungarian Gypsies originated in the Middle Ages. In the background of this higher CCR5-∆32 allele frequency in the population analysed in our study a genetic founder effect could be assumed. Allele frequency of CCR2-64I was found to be among the highest in Europe. SDF1-3'A allele frequency in Vlach Gypsies was significantly lower than in ethnic Hungarians. 63% of the total 560 individuals tested carried at least one of the mutations studied. These results could partially explain the low incidence of HIV/AIDS among Vlach Gypsies in Hungary.
authors.affiliation: Institute of Medical Microbiology, Semmelweis University, Nagyvárad tér 4, Budapest, 1089, Hungary. juheme@net.sote.hu
authors.forename: Emese
authors.initials: E
authors.lastname: Juhász
authors.forename: Judit
authors.initials: J
authors.lastname: Béres
authors.forename: Szilvia
authors.initials: S
authors.lastname: Kanizsai
authors.forename: Károly
authors.initials: K
authors.lastname: Nagy
mesh_terms: D054377:Chemokine CXCL12 / Q000235:genetics*; D018450:Disease Progression; D005006:Ethnicity / Q000235:genetics; D005060:Europe / Q000453:epidemiology; D018703:Founder Effect; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D015658:HIV Infections / Q000453:epidemiology* / Q000235:genetics / Q000821:virology; D015497:HIV-1 / Q000235:genetics / Q000472:pathogenicity*; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D007194:India / Q000453:epidemiology; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D054390:Receptors, CCR2 / Q000235:genetics*; D019713:Receptors, CCR5 / Q000235:genetics*; D006178:Romani People / Q000235:genetics*
chemical_list: C515255:CXCL12 protein, human; D054377:Chemokine CXCL12; D054390:Receptors, CCR2; D019713:Receptors, CCR5