Genome-wide association study of paediatric bacteraemia and sepsis

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BACKGROUND: Sepsis is defined as a dysregulated host response to infection leading to organ dysfunction. It represents a major global health concern, particularly in childhood. The underlying pathophysiological and genetic mechanisms remain insufficiently understood. METHODS: Using samples and clinical data from 650 children enrolled in the Swiss Pediatric Sepsis Study, a national multicentre cohort for culture-proven bacterial sepsis, we conducted within-cohort analyses and a separate case-control analysis in 510 cases and 994 controls, testing genome-wide polymorphisms for association with sepsis susceptibility and, in cases only, with disease characteristics. FINDINGS: In the within-cohort analysis, no significant genome-wide associations were found when assessing host, microbiological, and outcome features. In the case-control analysis, we identified one locus significantly associated with sepsis susceptibility, encompassing the CTNNAL1 and ELP1 genes. INTERPRETATION: Our results suggest contribution of genetic modulators to susceptibility for sepsis in children. FUNDING: The Swiss Pediatric Sepsis Study received funding from the Swiss National Science Foundation (342730_153158/1 and 320030_201060/1), the Swiss Society of Intensive Care, the Bangerter Foundation, the Vinetum and Borer Foundation, the Foundation for the Health of Children and Adolescents, and the Sanofi-Aventis Suisse. LJS was supported by the NOMIS and the Thomas and Doris Ammann Foundation.

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