RGD Reference Report - Evidence of association of interleukin-1 receptor-like 1 gene polymorphisms with chronic rhinosinusitis. - Rat Genome Database

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Evidence of association of interleukin-1 receptor-like 1 gene polymorphisms with chronic rhinosinusitis.

Authors: Castano, R  Bosse, Y  Endam, LM  Desrosiers, M 
Citation: Castano R, etal., Am J Rhinol Allergy. 2009 Jul-Aug;23(4):377-84.
RGD ID: 5144228
Pubmed: PMID:19671251   (View Abstract at PubMed)
DOI: DOI:10.2500/ajra.2009.23.3303   (Journal Full-text)

BACKGROUND: Chronic rhinosinusitis (CRS) is a common complex respiratory disease, with a potential genetic component to its development. The protein encoded by the Interleukin-1 receptor-like 1 (IL1RL1) gene is an important effector molecule of T-helper type 2 responses and may potentially be involved in the persistent inflammatory process observed in CRS. We investigated whether certain polymorphisms in the IL1RL1 gene are differentially present in patients with surgery-unresponsive CRS and in control subjects. METHODS: DNA extracted from an existing population of 206 adult patients with surgery-unresponsive CRS and 196 postal-code-matched controls was used. A set of 15 tagging single nucleotide polymorphisms (SNPs) was selected from the HapMap data set and genotyped. DNA sequencing was performed in a subgroup of 15 CRS patients. RESULTS: Statistically significant allelic associations with CRS were noted for 5 SNPs (rs10204137, p = 0.04; rs10208293, p = 0.03; rs13431828, p = 0.008; rs2160203, p = 0.03, and rs4988957, p = 0.03). The analysis showed a consistent significant protective effect against CRS for all the SNPs, yielding an odds ratio (OR) ranging from 0.56 to 0.72. The loci rs13431828 showed the highest association with CRS (p = 0.008; OR = 0.56; 95% CI, 0.36-0.86). A subanalysis revealed that the observed associations were stronger among patients with more severe disease. Sequencing identified five additional known nonsynonymous coding SNPs in linkage disequilibrium with genotyped SNPs. CONCLUSION: Pending replication of these results, this study suggests that polymorphisms within the IL1RL1 gene may be associated with CRS, conferring a protective effect, particularly among those with severe disease.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
rhinitis severityIEP 5144228associated with Sinusitis and DNA:SNPs: :multiple (human)RGD 
rhinitis severityISOIL1RL1 (Homo sapiens)5144228; 5144228associated with Sinusitis and DNA:SNPs: :multiple (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Il1rl1  (interleukin 1 receptor-like 1)

Genes (Mus musculus)
Il1rl1  (interleukin 1 receptor-like 1)

Genes (Homo sapiens)
IL1RL1  (interleukin 1 receptor like 1)


Additional Information