Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
26932604
TITLE
Identification of STOML2 as a putative novel asthma risk gene associated with IL6R.
ABSTRACT
BACKGROUND NlmCategory: 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 NlmCategory: 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 NlmCategory: 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). Amongst 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 increased asthma risk.
CONCLUSION NlmCategory: CONCLUSIONS
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. This article is protected by copyright. All rights reserved.
This article is protected by copyright. All rights reserved.
DATE PUBLISHED
2016 Mar 2
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2015/12/14
revised 2016/02/08
accepted 2016/02/25
entrez 2016/03/03 06:00
pubmed 2016/03/05 06:00
medline 2016/03/05 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Revez JA Revez Joana A JA QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Matheson MC Matheson Melanie C MC Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Australia.
Hui J Hui Jennie J Busselton Population Medical Research Institute, Sir Charles Gairdner Hospital, Perth, Australia.
Baltic S Baltic Svetlana S Institute for Respiratory Health, University of WA, Perth, Australia.
AAGC collaborators
James A James Alan A Department of Pulmonary Physiology, West Australian Sleep Disorders Research Institute, Nedlands, Australia.
Upham JW Upham John W JW School of Medicine, Translational Research Institute, The University of Queensland, Australia.
Dharmage S Dharmage Shyamali S Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Australia.
Thompson PJ Thompson Philip J PJ Institute for Respiratory Health, University of WA, Perth, Australia.
Martin NG Martin Nicholas G NG QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Hopper JL Hopper John L JL Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Australia.
Ferreira MA Ferreira Manuel A R MA QIMR Berghofer Medical Research Institute, Brisbane, Australia.
INVESTIGATORS
JOURNAL
VOLUME:
ISSUE:
TITLE: Allergy
ISOABBREVIATION: Allergy
YEAR: 2016
MONTH: Mar
DAY: 2
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1398-9995
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Allergy
COUNTRY: Denmark
ISSNLINKING: 0105-4538
NLMUNIQUEID: 7804028
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
JOURNAL ARTICLE
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
KEYWORD
Allergy
IL-6
IL-6R
Mitochondria
SLP2
MESH HEADINGS
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's