Frequencies of the -330 (T → G) IL-2 and -590 (T → C) IL-4 gene polymorphisms in a population from south-eastern Brazil

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Abstract
Polymorphisms in the promoter regions of cytokine genes may affect their transcription. A T/G substitution at position -330 of the interleukin-2 (IL-2) gene and a T/C substitution at position -590 of the interleukin-4 (IL-4) gene have been described previously. The -590 (T --> C) IL-4 gene polymorphism was associated with asthma and atopy in US and Japanese populations. Population genetics is a useful tool for determination of the biological significance of genetic polymorphisms. The aim of this study was to investigate the frequencies of polymorphisms in the promoter regions of the IL-2 and IL-4 genes in a population from south-eastern Brazil and to compare them with those published for other populations. Allele frequencies were estimated in 114 unrelated individuals from São Paulo State. These subjects had an average age of 41.2 years (+/- 12.4 years) and the ethnic composition of the sample was: 78.07% Caucasian, 11.4% Black and 10.53% Mulatto. DNA from subjects was extracted from epithelial buccal cells, and the PCR-RFLP technique was employed to investigate the -330 (T --> G) IL-2 and -590 (T --> C) IL-4 gene polymorphisms. The allele frequency of the IL-2 gene polymorphism obtained in our study was similar to that found in UK Caucasoid groups. The T allele frequency of the IL-4 gene polymorphism observed in the Caucasian Brazilian group was similar to that found in UK and Australian populations, while the frequency observed for the Black Brazilian group was similar to that found in Japanese and Kuwaiti Arab populations. The results for the -330 (T --> G) IL-2 and -590 (T --> C) IL-4 polymorphisms are consistent with the high contribution of European lineages to the population in south-eastern Brazil.