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Master's Dissertation
DOI
https://doi.org/10.11606/D.42.2012.tde-09112012-104048
Document
Author
Full name
Júlia Moreira Pescarini
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2012
Supervisor
Committee
Krieger, Henrique (President)
Marinho, Claudio Romero Farias
Simões, Aguinaldo Luiz
Title in Portuguese
Busca de polimorfismos relacionados à variabilidade do número de episódios de malária na população de Monte Negro (RO).
Keywords in Portuguese
Plasmodium
Epidemiologia
Genética
Malária
Polimorfismo
Abstract in Portuguese
A malária acompanha os seres humanos há cerca de 50 mil anos. Diferentes fatores genéticos do hospedeiro humano já foram relacionados à suscetibilidade ou resistência a malária: hemoglobinas S, C e E; Duffy; G6PD; TNF; TLRs; entre outros. Poucos estudos genético-epidemiológicos foram, até agora, conduzidos em populações misturadas, como a população brasileira e, em regiões com predominância da infecção por P. vivax. Estudos anteriores mostraram a presença de um fator genético principal, possivelmente localizado no cromossomo 4, relacionado ao número de episódios de malária no município de Monte Negro (RO). O presente trabalho buscou fatores genéticos relacionados à característica em questão em Monte Negro (RO). A análise do polimorfismo I602S do gene TLR1 (4p) pela técnica de RFLP mostrou ausência de associação. O GWAS encontrou sugestões de marcadores, que devem ser replicados em futuros estudos para verificar possíveis associações verdadeiras, sendo os mais relevantes os rs3796504, rs17518475, rs17527389, rs17660753, rs221188, rs7918405, rs7068695.
Title in English
Search for polymorphisms related to the variability in the number of malaria episodes in Monte Negro (RO) population.
Keywords in English
Plasmodium
Epidemiology
Genetic
Malaria
Polymorphism
Abstract in English
Malaria is present in humans since 50,000 years ago. Different Human host genetic factors are known to be related to susceptibility or resistance to malaria: S, C and E hemoglobins, Duffy, G6PD, TNF, TLRs, among others. Otherwise, few studies have been conducted in admixed populations, such as Brazilian populations and, in P. vivax predominance regions. Previous studies have shown the presence of a major genetic factor related to the number of malaria episodes of in the municipality of Monte Negro (RO) and, it was also suggested that this genetic factor may be located on chromosome 4. Thus, this study aimed to search genetic factors related to the number of individual malaria episodes in Monte Negro TLR1 candidate gene (4p) using RFLP and by GWAS. The first approach did not show any association with the studied phenotype, whereas GWAS data was able to suggest candidate markers that can be replicated in further studies in order to identify truly associations. The more relevant ones were rs3796504, rs17518475, rs17527389, rs17660753, rs221188, rs7918405, rs7068695.
 
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Publishing Date
2013-02-08
 
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