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Exome Array Analysis of Susceptibility to Pneumococcal Meningitis
Anne T Kloek1, Jessica van Setten2, Arie van der Ende3
1Department of Neurology, Center of Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, Amsterdam, the Netherlands.
Scientific Reports
|July 9, 2016
Summary
Host genetic factors influence bacterial meningitis risk. This study identified potential genetic variants in COL11A1 and EXOC6B associated with pneumococcal meningitis susceptibility, requiring further validation.
Area of Science:
- Genetics
- Infectious Diseases
- Immunology
Background:
- Host genetic variability is implicated in bacterial meningitis susceptibility.
- Identifying specific genes is crucial for understanding disease pathophysiology.
- Community-acquired pneumococcal meningitis remains a significant global health concern.
Purpose of the Study:
- To identify genetic variants associated with susceptibility to community-acquired pneumococcal meningitis.
- To investigate the role of host genetics in pneumococcal meningitis risk.
Main Methods:
- A genetic association study was conducted using 469 cases and 2072 controls.
- Genotyping of 102,097 single nucleotide polymorphisms (SNPs) was performed using a HumanExome BeadChip.
- Fisher exact test and sequence kernel association test (SKAT) were employed for association analyses.
Main Results:
- No genetic variants reached Bonferroni corrected significance.
- The strongest signals for susceptibility were rs139064549 in COL11A1 (p=1.51×10⁻⁶) and rs9309464 in EXOC6B (p=6.01×10⁻⁵).
- SKAT identified COL11A1 as a significantly associated gene (p=1.03×10⁻⁷).
Conclusions:
- Genetic variations in COL11A1 and EXOC6B may influence pneumococcal meningitis susceptibility.
- Replication studies are necessary to validate these findings.
- Further functional studies are warranted to elucidate the role of these variants in disease pathophysiology.
