Identifying Host Genetic Risk Factors in the Context of Public Health Surveillance for Invasive Pneumococcal Disease

摘要: Host genetic factors that modify risk of pneumococcal disease may help target future public health interventions to individuals at highest disease. We linked data from population-based surveillance for invasive (IPD) with state-based newborn dried bloodspot repositories identify biological samples who developed Genomic DNA was extracted 366 case and 732 anonymous control samples. TagSNPs were selected in 34 candidate genes thought be associated host response disease, a total 326 variants successfully genotyped. Among 543 European Americans (EA) (182 cases 361 controls), 166 African (AA) (53 113 common surfactant protein D (SFTPD) are consistently underrepresented IPD. SFTPD the strongest association IPD intronic rs17886286 (allelic OR 0.45, 95% confidence interval (CI) [0.25, 0.82], p = 0.007) EA 5′ flanking rs12219080 0.32, 95%CI [0.13, 0.78], 0.009) AA. Variants CD46 IL1R1 also both AA, but effects different directions; FAS, IL1B, IL4, IL10, IL12B, SFTPA1, SFTPB, PTAFR (p≤0.05) or conclude protect against AA variation other pathways contribute While our associations not corrected multiple comparisons therefore must replicated additional cohorts, this pilot study underscores feasibility integrating existing, prospectively collected, blood spot infectious diseases.