Polymorphisms of SP110 are associated with both pulmonary and extra-pulmonary tuberculosis among the Vietnamese

Fox, GJ; Sy, DN; Nhung, NV; Yu, B; Ellis, MK; Van Hung, N; Cuong, NK; Lien, LT; Marks, GB; Saunders, BM; Britton, WJ

Polymorphisms of SP110 are associated with both pulmonary and extra-pulmonary tuberculosis among the Vietnamese

Fox, GJ Sy, DN Nhung, NV Yu, B Ellis, MK Van Hung, N Cuong, NK Lien, LT Marks, GB Saunders, BM

Britton, WJ

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Publication Type:: Journal Article
Citation:: PLoS ONE, 2014, 9 (7)
Issue Date:: 2014-07-09

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Field	Value	Language
dc.contributor.author	Fox, GJ	en_US
dc.contributor.author	Sy, DN	en_US
dc.contributor.author	Nhung, NV	en_US
dc.contributor.author	Yu, B	en_US
dc.contributor.author	Ellis, MK	en_US
dc.contributor.author	Van Hung, N	en_US
dc.contributor.author	Cuong, NK	en_US
dc.contributor.author	Lien, LT	en_US
dc.contributor.author	Marks, GB	en_US
dc.contributor.author	Saunders, BM https://orcid.org/0000-0003-0540-4445	en_US
dc.contributor.author	Britton, WJ	en_US
dc.date.available	2014-05-15	en_US
dc.date.issued	2014-07-09	en_US
dc.identifier.citation	PLoS ONE, 2014, 9 (7)	en_US
dc.identifier.uri	http://hdl.handle.net/10453/36382
dc.description.abstract	Background: Tuberculosis (TB) is an infectious disease that remains a major cause of morbidity and mortality worldwide, yet the reasons why only 10% of people infected with Mycobacterium tuberculosis go on to develop clinical disease are poorly understood. Genetically determined variation in the host immune response is one factor influencing the response to M. tuberculosis. SP110 is an interferon-responsive nuclear body protein with critical roles in cell cycling, apoptosis and immunity to infection. However association studies of the gene with clinical TB in different populations have produced conflicting results. Methods: To examine the importance of the SP110 gene in immunity to TB in the Vietnamese we conducted a case-control genetic association study of 24 SP110 variants, in 663 patients with microbiologically proven TB and 566 unaffected control subjects from three tertiary hospitals in northern Vietnam. Results: Five SNPs within SP110 were associated with all forms of TB, including four SNPs at the C terminus (rs10208770, rs10498244, rs16826860, rs11678451) under a dominant model and one SNP under a recessive model, rs7601176. Two of these SNPs were associated with pulmonary TB (rs10208770 and rs16826860) and one with extra-pulmonary TB (rs10498244). Conclusion: SP110 variants were associated with increased susceptibility to both pulmonary and extra-pulmonary TB in the Vietnamese. Genetic variants in SP110 may influence macrophage signaling responses and apoptosis during M. tuberculosis infection, however further research is required to establish the mechanism by which SP110 influences immunity to tuberculosis infection. © 2014 Fox et al.	en_US
dc.relation.ispartof	PLoS ONE	en_US
dc.relation.isbasedon	10.1371/journal.pone.0099496	en_US
dc.subject.classification	General Science & Technology	en_US
dc.subject.mesh	Macrophages	en_US
dc.subject.mesh	Humans	en_US
dc.subject.mesh	Tuberculosis	en_US
dc.subject.mesh	Nuclear Proteins	en_US
dc.subject.mesh	Minor Histocompatibility Antigens	en_US
dc.subject.mesh	Case-Control Studies	en_US
dc.subject.mesh	Polymorphism, Single Nucleotide	en_US
dc.subject.mesh	Adult	en_US
dc.subject.mesh	Middle Aged	en_US
dc.subject.mesh	Asian Continental Ancestry Group	en_US
dc.subject.mesh	Vietnam	en_US
dc.subject.mesh	Female	en_US
dc.subject.mesh	Male	en_US
dc.subject.mesh	Young Adult	en_US
dc.subject.mesh	Genetic Association Studies	en_US
dc.title	Polymorphisms of SP110 are associated with both pulmonary and extra-pulmonary tuberculosis among the Vietnamese	en_US
dc.type	Journal Article
utslib.citation.volume	7	en_US
utslib.citation.volume	9	en_US
utslib.for	060506 Virology	en_US
pubs.embargo.period	Not known	en_US
pubs.organisational-group	/University of Technology Sydney
pubs.organisational-group	/University of Technology Sydney/Faculty of Science
pubs.organisational-group	/University of Technology Sydney/Faculty of Science/School of Life Sciences
utslib.copyright.status	open_access
pubs.issue	7	en_US
pubs.publication-status	Published	en_US
pubs.volume	9	en_US

Abstract:

Background: Tuberculosis (TB) is an infectious disease that remains a major cause of morbidity and mortality worldwide, yet the reasons why only 10% of people infected with Mycobacterium tuberculosis go on to develop clinical disease are poorly understood. Genetically determined variation in the host immune response is one factor influencing the response to M. tuberculosis. SP110 is an interferon-responsive nuclear body protein with critical roles in cell cycling, apoptosis and immunity to infection. However association studies of the gene with clinical TB in different populations have produced conflicting results. Methods: To examine the importance of the SP110 gene in immunity to TB in the Vietnamese we conducted a case-control genetic association study of 24 SP110 variants, in 663 patients with microbiologically proven TB and 566 unaffected control subjects from three tertiary hospitals in northern Vietnam. Results: Five SNPs within SP110 were associated with all forms of TB, including four SNPs at the C terminus (rs10208770, rs10498244, rs16826860, rs11678451) under a dominant model and one SNP under a recessive model, rs7601176. Two of these SNPs were associated with pulmonary TB (rs10208770 and rs16826860) and one with extra-pulmonary TB (rs10498244). Conclusion: SP110 variants were associated with increased susceptibility to both pulmonary and extra-pulmonary TB in the Vietnamese. Genetic variants in SP110 may influence macrophage signaling responses and apoptosis during M. tuberculosis infection, however further research is required to establish the mechanism by which SP110 influences immunity to tuberculosis infection. © 2014 Fox et al.

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http://hdl.handle.net/10453/36382