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Investigation of host candidate malaria-associated risk/protective SNPs in a Brazilian Amazonian population.

ABSTRACT: The Brazilian Amazon is a hypo-endemic malaria region with nearly 300,000 cases each year. A variety of genetic polymorphisms, particularly in erythrocyte receptors and immune response related genes, have been described to be associated with susceptibility and resistance to malaria. In order to identify polymorphisms that might be associated with malaria clinical outcomes in a Brazilian Amazonian population, sixty-four human single nucleotide polymorphisms in 37 genes were analyzed using a Sequenom massARRAY iPLEX platform. A total of 648 individuals from two malaria endemic areas were studied, including 535 malaria cases (113 individuals with clinical mild malaria, 122 individuals with asymptomatic infection and 300 individuals with history of previous mild malaria) and 113 health controls with no history of malaria. The data revealed significant associations (p<0.003) between one SNP in the IL10 gene (rs1800896) and one SNP in the TLR4 gene (rs4986790) with reduced risk for clinical malaria, one SNP in the IRF1 gene (rs2706384) with increased risk for clinical malaria, one SNP in the LTA gene (rs909253) with protection from clinical malaria and one SNP in the TNF gene (RS1800750) associated with susceptibility to clinical malaria. Also, a new association was found between a SNP in the CTL4 gene (rs2242665), located at the major histocompatibility complex III region, and reduced risk for clinical malaria. This study represents the first association study from an Amazonian population involving a large number of host genetic polymorphisms with susceptibility or resistance to Plasmodium infection and malaria outcomes. Further studies should include a larger number of individuals, refined parameters and a fine-scale map obtained through DNA sequencing to increase the knowledge of the Amazonian population genetic diversity.

SUBMITTER: da Silva Santos S

PROVIDER: S-EPMC3353949 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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Investigation of host candidate malaria-associated risk/protective SNPs in a Brazilian Amazonian population.

da Silva Santos Simone S Clark Taane G TG Campino Susana S Suarez-Mutis Martha Cecília MC Rockett Kirk A KA Kwiatkowski Dominic P DP Fernandes Octavio O

PloS one 20120516 5

The Brazilian Amazon is a hypo-endemic malaria region with nearly 300,000 cases each year. A variety of genetic polymorphisms, particularly in erythrocyte receptors and immune response related genes, have been described to be associated with susceptibility and resistance to malaria. In order to identify polymorphisms that might be associated with malaria clinical outcomes in a Brazilian Amazonian population, sixty-four human single nucleotide polymorphisms in 37 genes were analyzed using a Seque ...[more]

PMID: 22615793

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Project description:Populations of East Africa including Sudan, exhibit some of the highest indices of genetic diversity in the continent and worldwide. The current study aims to address the possible impact of population structure and population stratification on the outcome of case-control association-analysis of malaria candidate-genes in different Sudanese populations, where the pronounced genetic heterogeneity becomes a source of concern for the potential effect on the studies outcome.A total of 72 SNPs were genotyped using the Sequenom iPLEX Gold assay in 449 DNA samples that included; cases and controls from two village populations, malaria patients and out-patients from the area of Sinnar and additional controls consisting of healthy Nilo-Saharan speaking individuals. The population substructure was estimated using the Structure 2.2 programme.The Hardy-Weinberg Equilibrium values were generally within expectation in Hausa and Massalit. However, in the Sinnar area there was a notable excess of homozygosity, which was attributed to the Whalund effect arising from population amalgamation within the sample. The programme STRUCTURE revealed a division of both Hausa and Massalit into two substructures with the partition in Hausa more pronounced than in Massalit; In Sinnar there was no defined substructure. More than 25 of the 72 SNPs assayed were informative in all areas. Some important SNPs were not differentially distributed between malaria cases and controls, including SNPs in CD36 and NOS2. A number of SNPs showed significant p-values for differences in distribution of genotypes between cases and controls including: rs1805015 (in IL4R1) (P = 0.001), rs17047661 (in CR1) (P = 0.02) and rs1800750 (TNF-376)(P = 0.01) in the hospital samples; rs1050828 (G6PD+202) (P = 0.02) and rs1800896 (IL10-1082) (P = 0.04) in Massalit and rs2243250 (IL4-589) (P = 0.04) in Hausa.The difference in population structure partly accounts for some of these significant associations, and the strength of association proved to be sensitive to all levels of sub-structuring whether in the hospital or population-based study.

Project description:BackgroundMining in the Amazon exposes gold miners to various diseases, including malaria, whose control is still a major challenge. The environment of the mines contributes to the proliferation of vector mosquitoes and the precarious housing conditions facilitate transmission of the disease. Understanding gold miners' perceptions is essential for the formulation of strategies to fight malaria. A qualitative study was carried out in the municipality of Calçoene, state of Amapá, Brazilian Amazon adjointining the municipality of Oiapoque, that is in the border area with French Guiana and Suriname.MethodsA semi-structured interview was applied to an intentional sample of 29 miners, a number determined by the theoretical saturation criterion. Thematic analysis was adopted to obtain the results and the Cohen's Kappa index was calculated to verify the agreement between observers during coding.ResultsThe agreement between observers was verified by a Cohen's Kappa index of 0.82. Analysis of the interviews showed that gold miners were subjected to prejudice from the community due to forest diseases that they can transmit, and their activities are often associated with crime. When the miners return to their hometown after a period of mining, the urban population blames them for the onset of diseases such as malaria. Most participants in the survey did not know how malaria transmission occurs, and associated its occurrence with contaminated water and food. Participants reported not being afraid of the disease, trusting the diagnosis and available treatment, though this depends on where they are treated. The use of therapeutic resources, such as medicinal plants and medicines acquired in the illegal market, is very common in this population. Despite the challenges identified by the research subjects, they believe that the disease can be controlled, or the cases reduced, but there was low acceptability for a possible mass drug administration (MDA) intervention.ConclusionDespite a recent reduction in malaria prevalence in Brazil, there are still vulnerable populations, such as gold miners, who help to perpetuate the existence of the disease in the Amazon. The lack of knowledge regarding how the transmission of malaria occurs, associated with myths regarding this and the use of traditional health practices and illegal drugs for the treatment of the disease without a specific diagnosis, jeopardizes the country's efforts to eliminate malaria. It is necessary to implement control programmes in these populations, especially those who frequently travel around the border region and to remote locations, which are difficult regions for health teams to access, thus hindering diagnostic and treatment actions. For this reason, understanding the perceptions of these individuals as well as their customs, beliefs and lifestyle, can assist in the production of targeted educational material and adoption of strategies in the elimination of malaria in the country.

Dataset Information

Investigation of host candidate malaria-associated risk/protective SNPs in a Brazilian Amazonian population.

Publications

Investigation of host candidate malaria-associated risk/protective SNPs in a Brazilian Amazonian population.

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