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Article: Association of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chinese

TitleAssociation of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chinese
Authors
KeywordsChemicals And Cas Registry Numbers
Issue Date2009
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/gene
Citation
Genes And Immunity, 2009, v. 10 n. 5, p. 414-420 How to Cite?
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.
Persistent Identifierhttp://hdl.handle.net/10722/59225
ISSN
2015 Impact Factor: 2.472
2015 SCImago Journal Rankings: 1.636
PubMed Central ID
ISI Accession Number ID
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).

References

 

DC FieldValueLanguage
dc.contributor.authorChang, YKen_HK
dc.contributor.authorYang, Wen_HK
dc.contributor.authorZhao, Men_HK
dc.contributor.authorMok, CCen_HK
dc.contributor.authorChan, TMen_HK
dc.contributor.authorWong, RWSen_HK
dc.contributor.authorLee, KWen_HK
dc.contributor.authorMok, MYen_HK
dc.contributor.authorWong, SNen_HK
dc.contributor.authorNg, IOLen_HK
dc.contributor.authorLee, TLen_HK
dc.contributor.authorHo, MHKen_HK
dc.contributor.authorLee, PPWen_HK
dc.contributor.authorWong, WHSen_HK
dc.contributor.authorLau, CSen_HK
dc.contributor.authorSham, PCen_HK
dc.contributor.authorLau, YLen_HK
dc.date.accessioned2010-05-31T03:45:31Z-
dc.date.available2010-05-31T03:45:31Z-
dc.date.issued2009en_HK
dc.identifier.citationGenes And Immunity, 2009, v. 10 n. 5, p. 414-420en_HK
dc.identifier.issn1466-4879en_HK
dc.identifier.urihttp://hdl.handle.net/10722/59225-
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.en_HK
dc.languageengen_HK
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/geneen_HK
dc.relation.ispartofGenes and Immunityen_HK
dc.subjectChemicals And Cas Registry Numbers-
dc.titleAssociation of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chineseen_HK
dc.typeArticleen_HK
dc.identifier.emailYang, W: yangwl@hkucc.hku.hken_HK
dc.identifier.emailChan, TM: dtmchan@hku.hken_HK
dc.identifier.emailMok, MY: temy@hkucc.hku.hken_HK
dc.identifier.emailNg, IOL: iolng@hku.hken_HK
dc.identifier.emailLee, PPW: ppwlee@hku.hken_HK
dc.identifier.emailLau, CS: cslau@hku.hken_HK
dc.identifier.emailSham, PC: pcsham@hku.hken_HK
dc.identifier.emailLau, YL: lauylung@hku.hken_HK
dc.identifier.authorityYang, W=rp00524en_HK
dc.identifier.authorityChan, TM=rp00394en_HK
dc.identifier.authorityMok, MY=rp00490en_HK
dc.identifier.authorityNg, IOL=rp00335en_HK
dc.identifier.authorityLee, PPW=rp00462en_HK
dc.identifier.authorityLau, CS=rp01348en_HK
dc.identifier.authoritySham, PC=rp00459en_HK
dc.identifier.authorityLau, YL=rp00361en_HK
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1038/gene.2009.16en_HK
dc.identifier.pmid19357697en_HK
dc.identifier.pmcidPMC2834352-
dc.identifier.scopuseid_2-s2.0-67849118766en_HK
dc.identifier.hkuros155946en_HK
dc.identifier.hkuros162919-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-67849118766&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume10en_HK
dc.identifier.issue5en_HK
dc.identifier.spage414en_HK
dc.identifier.epage420en_HK
dc.identifier.isiWOS:000268168800006-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridChang, YK=35788792500en_HK
dc.identifier.scopusauthoridYang, W=23101349500en_HK
dc.identifier.scopusauthoridZhao, M=13309644600en_HK
dc.identifier.scopusauthoridMok, CC=34668219600en_HK
dc.identifier.scopusauthoridChan, TM=7402687700en_HK
dc.identifier.scopusauthoridWong, RWS=34875928200en_HK
dc.identifier.scopusauthoridLee, KW=35788977700en_HK
dc.identifier.scopusauthoridMok, MY=7006024184en_HK
dc.identifier.scopusauthoridWong, SN=7404590305en_HK
dc.identifier.scopusauthoridNg, IOL=7102753722en_HK
dc.identifier.scopusauthoridLee, TL=8508917400en_HK
dc.identifier.scopusauthoridHo, MHK=8925896400en_HK
dc.identifier.scopusauthoridLee, PPW=14048822200en_HK
dc.identifier.scopusauthoridWong, WHS=13310222200en_HK
dc.identifier.scopusauthoridLau, CS=14035682100en_HK
dc.identifier.scopusauthoridSham, PC=34573429300en_HK
dc.identifier.scopusauthoridLau, YL=7201403380en_HK
dc.identifier.citeulike4297457-

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