RGD Reference Report - Comprehensive genetic assessment of a functional TLR9 promoter polymorphism: no replicable association with asthma or asthma-related phenotypes. - Rat Genome Database

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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.
RGD ID: 5130712
Pubmed: PMID:21324137   (View Abstract at PubMed)
PMCID: PMC3048492   (View Article at PubMed Central)
DOI: DOI:10.1186/1471-2350-12-26   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
asthma no_associationIEP 5130712DNA:SNP:promoter:g.-1237T>C rs5743836 (human)RGD 
asthma no_associationISOTLR9 (Homo sapiens)5130712DNA:SNP:promoter:g.-1237T>C rs5743836 (human)RGD 
asthma no_associationISOTLR9 (Homo sapiens)5130712DNA:snp:promoter:g.-1237T>C rs5743836 (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Tlr9  (toll-like receptor 9)

Genes (Mus musculus)
Tlr9  (toll-like receptor 9)

Genes (Homo sapiens)
TLR9  (toll like receptor 9)


Additional Information