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Sociedade Brasileira de Medicina Tropical - SBMT, Revista da Sociedade Brasileira de Medicina Tropical, 4(45), p. 496-499

DOI: 10.1590/s0037-86822012005000001

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Distribution of QPY and RAH haplotypes of granzyme B gene in distinct Brazilian populations

Journal article published in 2012 by Garcia,Fernanda Bernadelli, Larissa Deadame de Figueiredo Nicolete, Silva,Israel Tojal, Nicolete,Larissa Deadame de Figueiredo, Rodrigues,Evandra Strazza, Covas,Dimas Tadeu, Malta Tm, Fernanda Bernadelli Garcia, Simone Kashima ORCID, Evandra Strazza Rodrigues, Garcia Fb, Rodrigues Es, Israel Tojal Silva, Silva It, Tathiane Maistro Malta and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

INTRODUCTION: The cytolysis mediated by granules is one of the most important effector functions of cytotoxic T lymphocytes and natural killer cells. Recently, three single nucleotide polymorphisms (SNPs) were identified at exons 2, 3, and 5 of the granzyme B gene, resulting in a haplotype in which three amino acids of mature protein Q48P88Y245 are changed to R48A88H245, which leads to loss of cytotoxic activity of the protein. In this study, we evaluated the frequency of these polymorphisms in Brazilian populations. METHODS: We evaluated the frequency of these polymorphisms in Brazilian ethnic groups (white, Afro-Brazilian, and Asian) by sequencing these regions. RESULTS: The allelic and genotypic frequencies of SNP 2364A/G at exon 2 in Afro-Brazilian individuals (42.3% and 17.3%) were significantly higher when compared with those in whites and Asians (p