Interleukin-10 promoter haplotypes are differently distributed in the Brazilian versus the Dutch population

Milton O. Moraes, Adalberto R. Santos, Joris J. M. Schonkeren, Patrícia R. Vanderborght, Tom H. M. Ottenhoff, Maria E. Moraes, José R. Moraes, Elizabeth P. Sampaio, Euzenir N. Sarno, Tom W. J. Huizinga

A1 Leprosy Laboratory, Tropical Medicine Department, Oswaldo Cruz Institute, Fiocruz, Av. Brasil, 4365 Manguinhos, RJ 21045-900, Rio de Janeiro, Brazil
A2 Laboratório de Imunogénetica, Instituto Nacional do Cancer, Ministério da Saúde, Rio de Janeiro, Brazil
A3 Department of Immunohematology and Blood Transfusion, Leiden University Medical Center, Leiden, The Netherlands
A4 Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands



The frequency of five different single nucleotide polymorphisms of the promoter interleukin-10 (IL-10) gene (-3575, -2849, 2763, -1082, -819) was compared between two healthy populations, one originating from the Netherlands and one from Rio de Janeiro, Brazil. A total of 321 Caucasian Dutch individuals and 293 Brazilians, grouped as Afro-Brazilians and Euro-Brazilians, were genotyped using PCR-RFLP. The frequencies of the genotypes in the Brazilian population were different (P<0.05) from the frequencies in the Dutch population in all but one (-2763) genotype. The comparison of genotype frequencies between Afro- and Euro-Brazilians did not demonstrate any differences. The haplotype combination of the most-distant three polymorphisms showed strong linkage disequilibrium. All eight possible combinations were observed in Brazilians, but only seven in Dutch Caucasians. The haplotype frequencies were also significantly different between Brazilians when compared with Dutch and also between Euro-Brazilians and Dutch. No differences were observed in haplotype frequencies between Afro-Brazilians and Euro-Brazilians. The m3575T/-2849G/-2763C is more frequent, while the AAA haplotype was much less represented in the Brazilian than in the Dutch population. The haplotype TAC, which was described in African-Americans, was observed only in Brazilians, almost exclusively among those of European origin. The results corroborate the data indicating that the Brazilian population exhibits a genetic admixture of Africans, Europeans, and Amerindians, and the data may serve as a background for clinical and immunological studies involving the IL-10 locus.