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Article: Association of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chinese
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TitleAssociation of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chinese
 
AuthorsChang, YK2
Yang, W2
Zhao, M2
Mok, CC3
Chan, TM2
Wong, RWS2
Lee, KW4
Mok, MY2
Wong, SN3
Ng, IOL2
Lee, TL2
Ho, MHK2
Lee, PPW2
Wong, WHS2
Lau, CS2 1
Sham, PC2
Lau, YL2
 
KeywordsChemicals And Cas Registry Numbers
 
Issue Date2009
 
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/gene
 
CitationGenes And Immunity, 2009, v. 10 n. 5, p. 414-420 [How to Cite?]
DOI: http://dx.doi.org/10.1038/gene.2009.16
 
AbstractSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease with complex genetic inheritance. Recently, single nucleotide polymorphisms (SNPs) in BANK1 and TNFSF4 have been shown to be associated with SLE in Caucasian populations, but it is not known whether they are also involved in the disease in other ethnic groups. Recent data from our genome-wide association study (GWAS) for 314 SLE cases and 920 controls collected in Hong Kong identified SNPs in and around BANK1 and TNFSF4 to be associated with SLE risk. On the basis of the results of the reported studies and our GWAS, SNPs were selected for further genotyping in 949 SLE patients (overlapping with the 314 cases in our GWAS) and non-overlapping 1042 healthy controls. We confirmed the associations of BANK1 and TNFSF4 with SLE in Chinese (BANK1, rs3733197, odds ratio (OR) = 0.84, P = 0.021; BANK1, rs17266594, OR = 0.61, P = 4.67 × 10-9; TNFSF4, rs844648, OR = 1.22, P = 2.47 × 10-3; TNFSF4, rs2205960, OR = 1.30, P = 2.41 × 10-4). Another SNP located in intron 1 of BANK1, rs4522865, was separately replicated by Sequenom in 360 cases and 360 controls and was also confirmed to be associated with SLE (OR = 0.725, P = 2.93 × 10-3). Logistic regression analysis showed that rs3733197 (A383T in ankyrin domain) and rs17266594 (a branch point-site SNP) from BANK1 had independent contributions towards the disease association (P=0.037 and 6.63 × 10-8, respectively). In TNFSF4, rs2205960 was associated with SLE independently from the effect of rs844648 (P = 6.26 × 10-3), but not vice versa (P = 0.55). These findings suggest that multiple independent genetic variants may be present within the gene locus, which exert their effects on SLE pathogenesis through different mechanisms.
 
ISSN1466-4879
2013 Impact Factor: 3.789
 
DOIhttp://dx.doi.org/10.1038/gene.2009.16
 
PubMed Central IDPMC2834352
 
ISI Accession Number IDWOS:000268168800006
Funding AgencyGrant Number
Shun Tak District Min Yuen Tong of Hong Kong
Mr and Mrs SH Wong Foundation Scholarship
BLWong Scholarship
Yu Chun Keung Memorial Scholarship for Master of Research in Medicine
Edward Sai Kim Hotung Paediatric Education and Research Fund
University Postgraduate Studentship
UGC, UHK200711159155
Funding Information:

This study is partially supported by the Shun Tak District Min Yuen Tong of Hong Kong. YKC thanks support from Mr and Mrs SH Wong Foundation Scholarship, BLWong Scholarship and Award of Yu Chun Keung Memorial Scholarship for Master of Research in Medicine. MZ was supported by Edward Sai Kim Hotung Paediatric Education and Research Fund, and University Postgraduate Studentship. WY thanks support from UGC, UHK (200711159155).

 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorChang, YK
 
dc.contributor.authorYang, W
 
dc.contributor.authorZhao, M
 
dc.contributor.authorMok, CC
 
dc.contributor.authorChan, TM
 
dc.contributor.authorWong, RWS
 
dc.contributor.authorLee, KW
 
dc.contributor.authorMok, MY
 
dc.contributor.authorWong, SN
 
dc.contributor.authorNg, IOL
 
dc.contributor.authorLee, TL
 
dc.contributor.authorHo, MHK
 
dc.contributor.authorLee, PPW
 
dc.contributor.authorWong, WHS
 
dc.contributor.authorLau, CS
 
dc.contributor.authorSham, PC
 
dc.contributor.authorLau, YL
 
dc.date.accessioned2010-05-31T03:45:31Z
 
dc.date.available2010-05-31T03:45:31Z
 
dc.date.issued2009
 
dc.description.abstractSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease with complex genetic inheritance. Recently, single nucleotide polymorphisms (SNPs) in BANK1 and TNFSF4 have been shown to be associated with SLE in Caucasian populations, but it is not known whether they are also involved in the disease in other ethnic groups. Recent data from our genome-wide association study (GWAS) for 314 SLE cases and 920 controls collected in Hong Kong identified SNPs in and around BANK1 and TNFSF4 to be associated with SLE risk. On the basis of the results of the reported studies and our GWAS, SNPs were selected for further genotyping in 949 SLE patients (overlapping with the 314 cases in our GWAS) and non-overlapping 1042 healthy controls. We confirmed the associations of BANK1 and TNFSF4 with SLE in Chinese (BANK1, rs3733197, odds ratio (OR) = 0.84, P = 0.021; BANK1, rs17266594, OR = 0.61, P = 4.67 × 10-9; TNFSF4, rs844648, OR = 1.22, P = 2.47 × 10-3; TNFSF4, rs2205960, OR = 1.30, P = 2.41 × 10-4). Another SNP located in intron 1 of BANK1, rs4522865, was separately replicated by Sequenom in 360 cases and 360 controls and was also confirmed to be associated with SLE (OR = 0.725, P = 2.93 × 10-3). Logistic regression analysis showed that rs3733197 (A383T in ankyrin domain) and rs17266594 (a branch point-site SNP) from BANK1 had independent contributions towards the disease association (P=0.037 and 6.63 × 10-8, respectively). In TNFSF4, rs2205960 was associated with SLE independently from the effect of rs844648 (P = 6.26 × 10-3), but not vice versa (P = 0.55). These findings suggest that multiple independent genetic variants may be present within the gene locus, which exert their effects on SLE pathogenesis through different mechanisms.
 
dc.description.naturepublished_or_final_version
 
dc.identifier.citationGenes And Immunity, 2009, v. 10 n. 5, p. 414-420 [How to Cite?]
DOI: http://dx.doi.org/10.1038/gene.2009.16
 
dc.identifier.citeulike4297457
 
dc.identifier.doihttp://dx.doi.org/10.1038/gene.2009.16
 
dc.identifier.epage420
 
dc.identifier.hkuros155946
 
dc.identifier.hkuros162919
 
dc.identifier.isiWOS:000268168800006
Funding AgencyGrant Number
Shun Tak District Min Yuen Tong of Hong Kong
Mr and Mrs SH Wong Foundation Scholarship
BLWong Scholarship
Yu Chun Keung Memorial Scholarship for Master of Research in Medicine
Edward Sai Kim Hotung Paediatric Education and Research Fund
University Postgraduate Studentship
UGC, UHK200711159155
Funding Information:

This study is partially supported by the Shun Tak District Min Yuen Tong of Hong Kong. YKC thanks support from Mr and Mrs SH Wong Foundation Scholarship, BLWong Scholarship and Award of Yu Chun Keung Memorial Scholarship for Master of Research in Medicine. MZ was supported by Edward Sai Kim Hotung Paediatric Education and Research Fund, and University Postgraduate Studentship. WY thanks support from UGC, UHK (200711159155).

 
dc.identifier.issn1466-4879
2013 Impact Factor: 3.789
 
dc.identifier.issue5
 
dc.identifier.pmcidPMC2834352
 
dc.identifier.pmid19357697
 
dc.identifier.scopuseid_2-s2.0-67849118766
 
dc.identifier.spage414
 
dc.identifier.urihttp://hdl.handle.net/10722/59225
 
dc.identifier.volume10
 
dc.languageeng
 
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/gene
 
dc.publisher.placeUnited Kingdom
 
dc.relation.ispartofGenes and Immunity
 
dc.relation.referencesReferences in Scopus
 
dc.subjectChemicals And Cas Registry Numbers
 
dc.titleAssociation of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chinese
 
dc.typeArticle
 
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<description.abstract>Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease with complex genetic inheritance. Recently, single nucleotide polymorphisms (SNPs) in BANK1 and TNFSF4 have been shown to be associated with SLE in Caucasian populations, but it is not known whether they are also involved in the disease in other ethnic groups. Recent data from our genome-wide association study (GWAS) for 314 SLE cases and 920 controls collected in Hong Kong identified SNPs in and around BANK1 and TNFSF4 to be associated with SLE risk. On the basis of the results of the reported studies and our GWAS, SNPs were selected for further genotyping in 949 SLE patients (overlapping with the 314 cases in our GWAS) and non-overlapping 1042 healthy controls. We confirmed the associations of BANK1 and TNFSF4 with SLE in Chinese (BANK1, rs3733197, odds ratio (OR) = 0.84, P = 0.021; BANK1, rs17266594, OR = 0.61, P = 4.67 &#215; 10-9; TNFSF4, rs844648, OR = 1.22, P = 2.47 &#215; 10-3; TNFSF4, rs2205960, OR = 1.30, P = 2.41 &#215; 10-4). Another SNP located in intron 1 of BANK1, rs4522865, was separately replicated by Sequenom in 360 cases and 360 controls and was also confirmed to be associated with SLE (OR = 0.725, P = 2.93 &#215; 10-3). Logistic regression analysis showed that rs3733197 (A383T in ankyrin domain) and rs17266594 (a branch point-site SNP) from BANK1 had independent contributions towards the disease association (P=0.037 and 6.63 &#215; 10-8, respectively). In TNFSF4, rs2205960 was associated with SLE independently from the effect of rs844648 (P = 6.26 &#215; 10-3), but not vice versa (P = 0.55). These findings suggest that multiple independent genetic variants may be present within the gene locus, which exert their effects on SLE pathogenesis through different mechanisms.</description.abstract>
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Author Affiliations
  1. University of Dundee College of Medicine, Dentistry and Nursing
  2. The University of Hong Kong Li Ka Shing Faculty of Medicine
  3. Tuen Mun Hospital
  4. Pamela Youde Nethersole Eastern Hospital