Tabish Qidwai - Exploration of Host Genetic Factors associated with Malaria

Infectious disease has profound impact on the human genome. DNA sequence variation present in human genome affects susceptibility to infectious disease and disease outcome. Infections of virus, bacteria, parasite and other diseases cause asymptomatic to lethal conditions which may be determined by DNA sequence variations in individuals. DNA sequence variation such as single nucleotide polymorphisms (SNPs), microsatellite repeats, and copy number variations (CNVs) have demonstrated their role in susceptibility/resistance to diseases. Out of these variations, SNP, the most common type of genetic variation influences susceptibility/resistance to disease and drug response.

Malaria is a parasitic infectious disease which exerts the strongest selective force on human genome and shapes many genomic regions. Due to driving force created by the malaria, many genetic variations in the human genome have been selected and shown protection against the disease and most of them related to the structure and function of erythrocytes. Human genome develops genetic control mechanisms through natural selection to provide resistance against the disease. Development of drug resistance in parasite, genetic complexity of parasite and lack of effective treatments, created the need of exploration of host genetic factors in pathogenesis, outcome, and risk of disease. Demonstrating in what way, host genes confer their effects would be helpful in identification of novel therapeutic approaches to combat malaria. Moreover, it could determine genetic risk of an individual human being to disease. The aim of present chapter is to cover information related to human genetics, polymorphisms in human genome and their role in susceptibility/resistance to P. falciparum caused malaria.