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

Lange, NE and Zhou, X and Lasky-Su, J and Himes, BE and Lazarus, R and Soto-Quirós, M and Avila, L and Celedón, JC and Hawrylowicz, CM and Raby, BA and Litonjua, AA (2011) Comprehensive genetic assessment of a functional TLR9 promoter polymorphism: No replicable association with asthma or asthma-related phenotypes. BMC Medical Genetics, 12.

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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 FEV 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. © 2011 Lange et al; licensee BioMed Central Ltd. 1


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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Lange, NE
Zhou, X
Lasky-Su, J
Himes, BE
Lazarus, R
Soto-Quirós, M
Avila, L
Celedón, JC
Hawrylowicz, CM
Raby, BA
Litonjua, AA
Date: 15 February 2011
Date Type: Publication
Journal or Publication Title: BMC Medical Genetics
Volume: 12
DOI or Unique Handle: 10.1186/1471-2350-12-26
Schools and Programs: School of Medicine > Immunology
School of Medicine > Medicine
School of Medicine > Pediatrics
Refereed: Yes
Date Deposited: 17 Nov 2016 21:01
Last Modified: 30 Mar 2021 15:55
URI: http://d-scholarship.pitt.edu/id/eprint/30181

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