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Genome Wide Association Study of Bacteraemia Susceptibility

Adrian Hill

Steven J Chapman, Anthony Scott, Thomas Williams.

Bacteraemia, caused by infection of the bloodstream by bacteria, is a common pathway in the progression to death from severe pneumonia, meningitis and sepsis. It accounts for an estimated 3 million deaths annually in children under the age of 5 years - the leading cause of death in children worldwide. Even in developed countries the mortality rate from bacteraemia remains unacceptably high. A key question is why only a proportion of individuals develop invasive disease when asymptomatic carriage of bacteria is widespread. Host genetic factors play an important role in explaining this inter-individual variation in susceptibility, and candidate gene studies have established a small number of replicated susceptibility loci for bacteraemia. Many more genes are likely to be involved, however, and current understanding of the host genetic factors which influence disease susceptibility and outcome remains extremely limited.

The study aims to identify major genetic susceptibility loci for bacteraemia through a genome-wide association study in children from rural coastal Kenya. Identification of major susceptibility loci may translate into clinical benefit, for example through the discovery of novel therapeutic targets.