Haplótipos de diferentes SNPs no interior do gene EWS em indivíduos afetados e não-afetados pelo sarcoma de Ewing

AUTOR(ES)

Déborah Soares Bispo Santos Silva

FONTE

IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia

DATA DE PUBLICAÇÃO

30/03/2012

RESUMO

Ewings sarcoma was first described by James Ewing in 1921 and it is the second most common bone tumor in children and young adults. Both chromosomal breakage and translocation occur in this sarcoma. The EWS gene is localized in chromosome 22 and is involved in this translocation. However, little is known about this gene breaking region and what sequences could be involved in higher chromosomal break susceptibility. In this study we aimed to investigate three SNPs in the EWS gene breaking region in a healthy subjects population and in Ewings sarcoma patients. Genotyping was performed by TaqMan assay for allelic discrimination using Real-Time PCR System. We conducted analysis of allelic and genotypic frequencies, as well as association and transmission disequilibrium tests. According to our results, the control group showed similar and different genotypes distribution of all SNPs when compared to other populations studied by different projects, which shows how important it is to know the frequencies of our population. To test the hypothesis that some SNP, SNParrangement or haplotype could influence in the susceptibility to develop Ewings sarcoma, we compared affected with non-affected individuals using association studies. The results showed one significant difference: a higher presence of homozygote T-rs4820804 in Ewings Sarcoma patients. Transmission Disequilibrium Test (TDT) was performed to compare data from Ewings Sarcoma patients and from their families but no statistically significant result was found. In conclusion, we find that the TT-rs4820804 EWS genotype can be associate with Ewings sarcoma and that the rs4820804 SNP can be a candidate to understand the EWS breakage susceptibility.

ASSUNTO(S)

biologia celular genÉtica sarcoma de ewing genes biologia geral biologia molecular neoplasias Ósseas polimorfismo genÉtico humano

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