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Conference Paper: Association of Interferon Regulatory Factor 5 (IRF5) polymorphisms with systemic lupus erythematosus (SLE)

TitleAssociation of Interferon Regulatory Factor 5 (IRF5) polymorphisms with systemic lupus erythematosus (SLE)
Authors
Issue Date2007
PublisherNature Publishing Group. The Journal web site ia located at http://www.nature.com/ejhg/index.html
Citation
The 2007 Conference of the European Society of Human Genetics (ESHG), Nice, France, 16-19 June 2007. In European Journal of Human Genetics, 2007, v. 15 suppl. 1, p. 279, abstract P1109 How to Cite?
AbstractBACKGROUND: Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by the dysfunction of immune cells, leading to hyperactivity of B cells and over-production of autoantibodies and the formation of immune complexes. The level of IFN-α, a type I interferon, is correlated with both SLE disease activity and severity, and is therefore suggested to be involved in the pathogenesis of SLE. Activation of transcription factors, including Interferon Regulatory Factors (IRFs) 3, 5 and 7 can modulate the expression of type I IFN genes. IRFs control inflammation, immunity and apoptosis. Irf5 knockout mouse also shows reduction of pro-inflammatory cytokines, including IL-6, IL-12 and TNF-a production. Recently several association studies in different populations have reported that IRF5 gene is a susceptibility gene of SLE. METHODS: We hypothesized that polymorphisms of IRF5 may affect the susceptibility and severity of SLE in the Hong Kong Chinese population. SNP rs2004640 creates a 5’ donor splice site for alternate isoform of transcript in exon 1, whereas rs10954213 creates a functional polyadenylation site in 3’ UTR and affects the expression of transcript variants. The 2 SNPs were genotyped in 444 SLE patients and 410 healthy controls, using sequencing. RESULTS: No association of IRF5 gene polymorphisms with SLE was found. However, an overall difference in the distribution of the haplotype frequencies between SLE patients and controls was detected. The haplotype TA was identified as a probable risk haplotypes associated with SLE.
Persistent Identifierhttp://hdl.handle.net/10722/106216
ISSN
2015 Impact Factor: 4.58
2015 SCImago Journal Rankings: 2.077

 

DC FieldValueLanguage
dc.contributor.authorSiu, HOen_HK
dc.contributor.authorYang, Wen_HK
dc.contributor.authorLau, CSen_HK
dc.contributor.authorChan, TMen_HK
dc.contributor.authorWong, WHSen_HK
dc.contributor.authorLau, YLen_HK
dc.contributor.authorAlarcon-Riquelme, MEen_HK
dc.date.accessioned2010-09-25T23:06:28Z-
dc.date.available2010-09-25T23:06:28Z-
dc.date.issued2007en_HK
dc.identifier.citationThe 2007 Conference of the European Society of Human Genetics (ESHG), Nice, France, 16-19 June 2007. In European Journal of Human Genetics, 2007, v. 15 suppl. 1, p. 279, abstract P1109en_HK
dc.identifier.issn1018-4813-
dc.identifier.urihttp://hdl.handle.net/10722/106216-
dc.description.abstractBACKGROUND: Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by the dysfunction of immune cells, leading to hyperactivity of B cells and over-production of autoantibodies and the formation of immune complexes. The level of IFN-α, a type I interferon, is correlated with both SLE disease activity and severity, and is therefore suggested to be involved in the pathogenesis of SLE. Activation of transcription factors, including Interferon Regulatory Factors (IRFs) 3, 5 and 7 can modulate the expression of type I IFN genes. IRFs control inflammation, immunity and apoptosis. Irf5 knockout mouse also shows reduction of pro-inflammatory cytokines, including IL-6, IL-12 and TNF-a production. Recently several association studies in different populations have reported that IRF5 gene is a susceptibility gene of SLE. METHODS: We hypothesized that polymorphisms of IRF5 may affect the susceptibility and severity of SLE in the Hong Kong Chinese population. SNP rs2004640 creates a 5’ donor splice site for alternate isoform of transcript in exon 1, whereas rs10954213 creates a functional polyadenylation site in 3’ UTR and affects the expression of transcript variants. The 2 SNPs were genotyped in 444 SLE patients and 410 healthy controls, using sequencing. RESULTS: No association of IRF5 gene polymorphisms with SLE was found. However, an overall difference in the distribution of the haplotype frequencies between SLE patients and controls was detected. The haplotype TA was identified as a probable risk haplotypes associated with SLE.-
dc.languageengen_HK
dc.publisherNature Publishing Group. The Journal web site ia located at http://www.nature.com/ejhg/index.html-
dc.relation.ispartofEuropean Journal of Human Geneticsen_HK
dc.titleAssociation of Interferon Regulatory Factor 5 (IRF5) polymorphisms with systemic lupus erythematosus (SLE)en_HK
dc.typeConference_Paperen_HK
dc.identifier.emailSiu, HO: bc_sho@stu.ust.hken_HK
dc.identifier.emailYang, W: yangwl@hkucc.hku.hken_HK
dc.identifier.emailWong, WHS: whswong@hku.hken_HK
dc.identifier.emailLau, YL: lauylung@hkucc.hku.hken_HK
dc.identifier.authorityYang, W=rp00524en_HK
dc.identifier.authorityLau, YL=rp00361en_HK
dc.identifier.hkuros131902en_HK
dc.identifier.volume15-
dc.identifier.issuesuppl. 1-
dc.identifier.spage279, abstract P1109en_HK
dc.identifier.epage279, abstract P1109-
dc.publisher.placeUnited Kingdom-

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