RGD Reference Report - Epiregulin (EREG) variation is associated with susceptibility to tuberculosis. - Rat Genome Database

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Epiregulin (EREG) variation is associated with susceptibility to tuberculosis.

Authors: Thuong, N T T  Hawn, T R  Chau, T T H  Bang, N D  Yen, N T B  Thwaites, G E  Teo, Y Y  Seielstad, M  Hibberd, M  Lan, N T N  Caws, M  Farrar, J J  Dunstan, S J 
Citation: Thuong NT, etal., Genes Immun. 2012 Apr;13(3):275-81. doi: 10.1038/gene.2011.83. Epub 2011 Dec 15.
RGD ID: 39457686
Pubmed: PMID:22170233   (View Abstract at PubMed)
PMCID: PMC3684976   (View Article at PubMed Central)
DOI: DOI:10.1038/gene.2011.83   (Journal Full-text)

Although host genetics influences susceptibility to Mycobacterium tuberculosis, the human genes regulating pathogenesis remain largely unknown. We used M. tuberculosis-stimulated macrophage gene expression profiling in conjunction with a case-control genetic association study to discover epiregulin (EREG), as a novel candidate tuberculosis (TB) susceptibility gene. Using a genome-wide association study dataset, we found that among the 21 genes with greater than 50-fold induction, EREG had the most polymorphisms associated with TB. We genotyped haplotype-tagging polymorphisms in discovery (N = 337 cases, N = 380 controls) and validation (N = 332 cases) datasets and an EREG polymorphism (rs7675690) was associated with susceptibility to TB (genotypic comparison; corrected P = 0.00007). rs7675690 was also associated more strongly with infections caused by the Beijing lineage of M. tuberculosis when compared with non-Beijing strains (controls vs Beijing, OR 7.81, P = 8.7 × 10(-5); non-Beijing, OR 3.13, P = 0.074). Furthermore, EREG expression was induced in monocytes and peripheral blood mononuclear cells stimulated with M. tuberculosis as well as TLR4 and TLR2/1/6 ligands. In murine macrophages, EREG expression induced by M. tuberculosis was MYD88- and TLR2-dependent. Together, these data provide the first evidence for an important role for EREG as a susceptibility gene for human TB.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
EREGHumantuberculosis susceptibilityIAGP DNA:SNP:intron: (rs7675690) (human)RGD 
EregRattuberculosis susceptibilityISOEREG (Homo sapiens)DNA:SNP:intron: (rs7675690) (human)RGD 
EregMousetuberculosis susceptibilityISOEREG (Homo sapiens)DNA:SNP:intron: (rs7675690) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ereg  (epiregulin)

Genes (Mus musculus)
Ereg  (epiregulin)

Genes (Homo sapiens)
EREG  (epiregulin)


Additional Information