Identification of STOML2 as a putative novel asthma risk gene associated with IL6R

Revez, J. A., Matheson, M. C., Hui, J., Baltic, S., James, A., Upham, J. W., Dharmage, S., Thompson, P. J., Martin, N. G., Hopper, J. L. and Ferreira, M. A. R. (2016) Identification of STOML2 as a putative novel asthma risk gene associated with IL6R. Allergy, 71 7: 1020-1030. doi:10.1111/all.12869

Author Revez, J. A.
Matheson, M. C.
Hui, J.
Baltic, S.
James, A.
Upham, J. W.
Dharmage, S.
Thompson, P. J.
Martin, N. G.
Hopper, J. L.
Ferreira, M. A. R.
Title Identification of STOML2 as a putative novel asthma risk gene associated with IL6R
Formatted title
Identification of STOML2 as a putative novel asthma risk gene associated with IL6R
Journal name Allergy   Check publisher's open access policy
ISSN 1398-9995
Publication date 2016-07
Year available 2016
Sub-type Article (original research)
DOI 10.1111/all.12869
Open Access Status Not Open Access
Volume 71
Issue 7
Start page 1020
End page 1030
Total pages 11
Place of publication Chichester, West Sussex, United Kingdom
Publisher Wiley-Blackwell Publishing
Collection year 2017
Language eng
Formatted abstract
Background: Functional variants in the interleukin-6 receptor gene (IL6R) are associated with asthma risk. We hypothesized that genes co-expressed with IL6R might also be regulated by genetic polymorphisms that are associated with asthma risk. The aim of this study was to identify such genes.

Methods: To identify genes whose expression was correlated with that of IL6R, we analyzed gene expression levels generated for 373 human lymphoblastoid cell lines by the Geuvadis consortium and for 38 hematopoietic cell types by the Differentiation Map Portal (DMAP) project. Genes correlated with IL6R were then screened for nearby single nucleotide polymorphisms (SNPs) that were significantly associated with both variation in gene expression levels (eSNPs) and asthma risk.

Results: We identified 90 genes with expression levels correlated with those of IL6R and that also had a nearby eSNP associated with disease risk in a published asthma GWAS (N = 20 776). For 16 (18%) genes, the association between the eSNP and asthma risk replicated with the same direction of effect in a further independent published asthma GWAS (N = 27 378). Among the top replicated associations (FDR < 0.05) were eSNPs for four known (IL18R1, IL18RAP, BCL6, and STAT6) and one putative novel asthma risk gene, stomatin-like protein 2 (STOML2). The expression of STOML2 was negatively correlated with IL6R, while eSNPs that increased the expression of STOML2 were associated with an increased asthma risk.

Conclusion: The expression of STOML2, a gene that plays a key role in mitochondrial function and T-cell activation, is associated with both IL-6 signaling and asthma risk.
Keyword Allergy
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
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