Identifying Host Genetic Risk Factors for Invasive Pneumococcal Disease
Author Information
Author(s): Lingappa Jairam R., Dumitrescu Logan, Zimmer Shanta M., Lynfield Ruth, McNicholl Janet M., Messonnier Nancy E., Whitney Cynthia G., Crawford Dana C.
Primary Institution: University of Washington
Hypothesis
Host genetic factors that modify risk of pneumococcal disease may help target future public health interventions to individuals at highest risk of disease.
Conclusion
Variants in the surfactant protein D gene may protect against invasive pneumococcal disease in both European Americans and African Americans.
Supporting Evidence
- Variants in SFTPD are consistently underrepresented in invasive pneumococcal disease cases.
- Common variants in surfactant protein D are associated with reduced risk of invasive pneumococcal disease.
- Genomic DNA was extracted from 366 case and 732 control samples.
Takeaway
Some people have genes that help them fight off a serious lung infection called pneumococcal disease, and understanding these genes can help doctors protect those who are most at risk.
Methodology
The study linked data from public health surveillance with newborn dried bloodspot repositories to identify genetic samples from individuals who developed invasive pneumococcal disease.
Potential Biases
Potential misclassification of ancestry could confound results due to genetic characteristics indicating African ancestry in individuals labeled as European American.
Limitations
Associations are not corrected for multiple comparisons and must be replicated in additional cohorts.
Participant Demographics
The study included 543 European Americans and 166 African Americans, with a median age of 1.1 years.
Statistical Information
P-Value
p=0.007 for SFTPD variant rs17886286 and p=0.009 for rs12219080.
Confidence Interval
[0.25, 0.82] for rs17886286 and [0.13, 0.78] for rs12219080.
Statistical Significance
p≤0.05
Digital Object Identifier (DOI)
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