Comprehensive genetic assessment of a functional TLR9 promoter polymorphism: no replicable association with asthma or asthma-related phenotypes
2011

Study of TLR9 Gene Variant and Its Link to Asthma

Sample size: 2261 publication Evidence: moderate

Author Information

Author(s): Nancy E Lange, Xiaobo Zhou, Jessica Lasky-Su, Blanca E Himes, Ross Lazarus, Manuel Soto-Quirós, Lydiana Avila, Juan C Celedón, Catherine M Hawrylowicz, Benjamin A Raby, Augusto A Litonjua

Primary Institution: Channing Laboratory, Brigham and Women's Hospital and Harvard Medical School

Hypothesis

Is the TLR9 promoter polymorphism rs5743836 associated with asthma susceptibility and related phenotypes?

Conclusion

The TLR9 variant rs5743836 does not appear to be a significant risk factor for asthma.

Supporting Evidence

  • Previous studies suggested a role for the TLR9 variant in asthma, but this study found no significant association.
  • Functional studies showed the CC genotype had higher promoter activity, but this did not translate to asthma susceptibility.
  • Associations with lung function measures were not significant after correction for multiple comparisons.

Takeaway

The study looked at a gene variant to see if it affects asthma, but it turns out it doesn't really matter for asthma risk.

Methodology

Genotyping of rs5743836 was performed in three cohorts, with association analyses using chi-square and family-based testing.

Limitations

The associations were not significant after correcting for multiple comparisons, and results were not replicated in all cohorts.

Participant Demographics

Cohorts included children and adults, primarily Caucasian.

Statistical Information

P-Value

p = 0.14 for CAMP, p = 0.77 for Costa Rica, p = 0.83 for iCAP

Digital Object Identifier (DOI)

10.1186/1471-2350-12-26

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