Abstract
To present the frequency of single nucleotide polymorphisms of a few immune response genes in a population sample from São Paulo City (SP), Brazil. Data on allele frequencies of known polymorphisms of innate and acquired immunity genes were presented, the majority with proven impact on gene function. Data were gathered from a sample of healthy individuals, non-HLA identical siblings of bone marrow transplant recipients from the Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, obtained between 1998 and 2005. The number of samples varied for each single nucleotide polymorphism analyzed by polymerase chain reaction followed by restriction enzyme cleavage. Allele and genotype distribution of 41 different gene polymorphisms, mostly cytokines, but also including other immune response genes, were presented. We believe that the data presented here can be of great value for case-control studies, to define which polymorphisms are present in biologically relevant frequencies and to assess targets for therapeutic intervention in polygenic diseases with a component of immune and inflammatory responses.
Highlights
It has become increasingly clear that individual genetic variation is an essential component of overall immune responses that contributes to susceptibility, progression, and outcome of infectious and autoimmune diseases, and cancer
We chose to analyze healthy individuals coming from the same socioeconomic strata as the patients seen at the largest hospital in São Paulo. These individuals mirror the great diversity present in the population of the city of São Paulo, and though ancestry markers were not analyzed, we feel the information should be reported in order to be available for fellow researchers in the field when searching for candidate genes for casecontrol studies of the many different types of diseases that affect 19 million inhabitants of the extended metropolitan region of São Paulo
In this article we present a series of allele and genotype frequencies of known and novel immune response genes
Summary
It has become increasingly clear that individual genetic variation is an essential component of overall immune responses that contributes to susceptibility, progression, and outcome of infectious and autoimmune diseases, and cancer. Useful variants for these genome-wide association studies (GWAS) typically exhibit frequencies between 0.5 and 5% and a great number of cases and controls is needed to obtain statistical power. These individuals mirror the great diversity present in the population of the city of São Paulo, and though ancestry markers were not analyzed, we feel the information should be reported in order to be available for fellow researchers in the field when searching for candidate genes for casecontrol studies of the many different types of diseases that affect 19 million inhabitants of the extended metropolitan region of São Paulo.
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