| Summary: | <p>Abstract</p> <p>Background</p> <p>Malaria is among the most prevalent parasitic diseases worldwide. In Brazil, malaria is concentrated in the northern region, where <it>Plasmodium vivax</it> accounts for 85% disease incidence. The role of genetic factors in host immune system conferring resistance/susceptibility against <it>P</it>. <it>vivax</it> infections is still poorly understood.</p> <p>Methods</p> <p>The present study investigates the influence of polymorphisms in 18 genes related to the immune system in patients with malaria caused by <it>P</it>. <it>vivax</it>. A total of 263 healthy individuals (control group) and 216 individuals infected by <it>P</it>. <it>vivax</it> (malaria group) were genotyped for 33 single nucleotide polymorphisms (SNPs) in <it>IL1B</it>, <it>IL2</it>, <it>IL4</it>, <it>IL4R</it>, <it>IL6</it>, <it>IL8</it>, <it>IL10</it>, <it>IL12A</it>, <it>IL12B</it>, <it>IL12RB1</it>, <it>SP110</it>, <it>TNF</it>, <it>TNFRSF1A</it>, <it>IFNG</it>, <it>IFNGR1</it>, <it>VDR</it>, <it>PTPN22</it> and <it>P2X7</it> genes. All subjects were genotyped with 48 ancestry informative insertion-deletion polymorphisms to determine the proportion of African, European and Amerindian ancestry. Only 13 SNPs in 10 genes with differences lower than 20% between cases and controls in a Poisson Regression model with age as covariate were further investigated with a structured population association test.</p> <p>Results</p> <p>The <it>IL1B</it> gene -5839C > T and <it>IL4R</it> 1902A > G polymorphisms and <it>IL12RB1</it> -1094A/-641C and <it>TNF</it> -1031 T/-863A/-857 T/-308 G/-238 G haplotypes were associated with malaria susceptibility after population structure correction (p = 0.04, p = 0.02, p = 0.01 and p = 0.01, respectively).</p> <p>Conclusion</p> <p><it>Plasmodium vivax</it> malaria pathophysiology is still poorly understood. The present findings reinforce and increase our understanding about the role of the immune system in malaria susceptibility.</p>
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