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Association of the interleukin-1 receptor antagonist gene with asthma.

Authors: Gohlke, H  Illig, T  Bahnweg, M  Klopp, N  Andre, E  Altmuller, J  Herbon, N  Werner, M  Knapp, M  Pescollderungg, L  Boner, A  Malerba, G  Pignatti, PF  Wjst, M 
Citation: Gohlke H, etal., Am J Respir Crit Care Med. 2004 Jun 1;169(11):1217-23. Epub 2004 Mar 12.
Pubmed: (View Article at PubMed) PMID:15020290
DOI: Full-text: DOI:10.1164/rccm.200302-281OC

The interleukin-1 cluster on human chromosome 2q12-2q14 harbors various promising candidate genes for asthma and other inflammatory diseases. We conducted a systematic association study with single-nucleotide polymorphisms (SNPs) located in candidate genes situated in this cluster. Single-marker, two-locus and three-locus haplotype analysis of SNPs yielded several significant results (p < 0.05-0.0021) for the human IL1RN gene encoding the IL-1 receptor antagonist protein, an antiinflammatory cytokine that plays an important role in maintaining the balance between inflammatory and antiinflammatory cytokines. These findings were replicated and confirmed in an independent Italian family sample in which significant, although weaker, association with asthma was detected. A sequencing approach to the coding region of the human IL1RN gene revealed additional DNA variants, from which a selection was also associated with the disease in German and Italian samples. Calculation of the linkage disequilibrium for the human IL1RN gene showed strong linkage disequilibrium for nearly all analyzed SNPs. Further haplotype analysis indicated that six SNPs are sufficient for tagging all haplotypes with a prevalence of more than 1%. The most frequent haplotype constructed from these SNPs was 1.4-fold overtransmitted in the German family sample.


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CRRD Object Information
CRRD ID: 4143216
Created: 2010-09-20
Species: All species
Last Modified: 2010-09-20
Status: ACTIVE


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