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

Authors: Lange, NE  Zhou, X  Lasky-Su, J  Himes, BE  Lazarus, R  Soto-Quiros, M  Avila, L  Celedon, JC  Hawrylowicz, CM  Raby, BA  Litonjua, AA 
Citation: Lange NE, etal., BMC Med Genet. 2011 Feb 15;12:26.
Pubmed: (View Article at PubMed) PMID:21324137
DOI: Full-text: DOI:10.1186/1471-2350-12-26

ABSTRACT: BACKGROUND: Prior studies suggest a role for a variant (rs5743836) in the promoter of toll-like receptor 9 (TLR9) in asthma and other inflammatory diseases. We performed detailed genetic association studies of the functional variant rs5743836 with asthma susceptibility and asthma-related phenotypes in three independent cohorts. METHODS: rs5743836 was genotyped in two family-based cohorts of children with asthma and a case-control study of adult asthmatics. Association analyses were performed using chi square, family-based and population-based testing. A luciferase assay was performed to investigate whether rs5743836 genotype influences TLR9 promoter activity. RESULTS: Contrary to prior reports, rs5743836 was not associated with asthma in any of the three cohorts. Marginally significant associations were found with FEV1 and FVC (p = 0.003 and p = 0.008, respectively) in one of the family-based cohorts, but these associations were not significant after correcting for multiple comparisons. Higher promoter activity of the CC genotype was demonstrated by luciferase assay, confirming the functional importance of this variant. CONCLUSION: Although rs5743836 confers regulatory effects on TLR9 transcription, this variant does not appear to be an important asthma-susceptibility locus.


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CRRD Object Information
CRRD ID: 5130712
Created: 2011-04-11
Species: All species
Last Modified: 2011-04-11
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.