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O023 - GENOME-WIDE ASSOCIATION STUDY OF PNEUMOCOCCAL CARRIAGE AMONG NEPALESE CHILDREN. (ID 435)
Determining the host molecular genetic characteristics associated with pneumococcal colonisation may inform the development of new clinical interventions which could interrupt pneumococcal transmission and progression to disease. We performed a genome-wide association study to identify the genetic variants associated with pneumococcal carriage.
DNA samples collected from healthy Nepalese children were genotyped using Illumina Global Screening Arrays. Array data underwent QC and filtering before undergoing imputation using the HRC R1.1 2016 reference panel. Nasopharyngeal swabs collected from participants were processed for the presence of pneumococci by conventional microbiological techniques. Association analysis was performed using PLINK 2.
Following filtering, 1355 carriers (cases) and 766 non-carriers (controls) were analysed. 10 variants within a single region on chromosome 12, were associated with pneumococcal carriage (p<10-8). The variant that had the strongest association with pneumococcal carriage (MAF carriers = 0.07 vs MAF non-carriers = 0.13, OR 0.52, 95% CI 0.42-0.64, p=2.3x10-8), was located in PPFIA2 (PTPRF Interacting Protein Alpha 2).
We identified host genetic variants in PPFIA2 (which encodes a protein involved in cell adhesion, integrin expression, and cell-matrix interactions) are associated with pneumococcal carriage. Further studies confirming this association and the biological role in pneumococcal carriage are needed.