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Article: Association of CD247 with systemic lupus erythematosus in Asian populations

TitleAssociation of CD247 with systemic lupus erythematosus in Asian populations
Authors
KeywordsAsian
association
CD247
GWAS
systemic lupus erythematosus
Issue Date2012
PublisherSage Publications Ltd. The Journal's web site is located at http://lup.sagepub.com
Citation
Lupus, 2012, v. 21 n. 1, p. 75-83 How to Cite?
Abstract
Objective: Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease with complex genetic inheritance. CD247 (CD3Z, TCRZ) plays a vital role in antigen recognition and signal transduction in antigen-specific immune responses, and is known to be involved in SLE pathogenesis. Weak disease association was reported for genetic variants in this gene in Caucasian studies for SLE, Crohn's disease and systemic sclerosis, but its role as a genetic risk factor was never firmly established. Methods: In this study, using a collection of 612 SLE patients and 2193 controls of Chinese ethnicity living in Hong Kong in a genome-wide study, single nucleotide polymorphisms (SNPs) in and around CD247 were identified as being associated with SLE. The two most significant SNPs in this locus were selected for further replication using TaqMan genotyping assay in 3339 Asian patients from Hong Kong, Mainland China, and Thailand, as well as 4737 ethnically and geographically matched controls. Results: The association of CD247 with SLE in Asian populations was confirmed (rs704853: odds ratio [OR] = 0. 81, p = 2.47 × 10-7; rs858543: OR = 1.10, p = 0.0048). Patient-only analysis suggested that rs704853 is also linked to oral ulcers, hematologic disorders and anti-double-stranded DNA (dsDNA) antibody production. Conclusion: A significant association between variants in CD247 and SLE was demonstrated in Asian populations. Understanding the involvement of CD247 in SLE may shed new light on disease mechanisms and development of new treatment paradigms. © The Author(s), 2011.
Persistent Identifierhttp://hdl.handle.net/10722/145896
ISSN
2013 Impact Factor: 2.481
ISI Accession Number ID
Funding AgencyGrant Number
Shun Tak District Min Yuen Tong of Hong Kong
Research Grant Council of Hong KongGRF HKU781709M
HKU 7623/08M
HKU 7747/07M
HKU775608M
National Natural Science Foundation of China30830089
National Research Council of Thailand
Edward the Sai Kim Hotung Paediatric Education and Research Fund
University Postgraduate Studentship
Funding Information:

This study was partially supported by a generous donation from Shun Tak District Min Yuen Tong of Hong Kong (to YLL). WY is thankful for support from Research Grant Council of Hong Kong (GRF HKU781709M). DQY is thankful for grant support from the key program of National Natural Science Foundation of China (No. 30830089). NH and YA are thankful for support from the National Research Council of Thailand. Genotyping of samples serving as controls in this study was supported by Research Grants Council of Hong Kong GRF grants HKU 7623/08M, HKU 7747/07M and HKU775608M. JZ and YZ are supported by Edward the Sai Kim Hotung Paediatric Education and Research Fund and University Postgraduate Studentship.

References

 

Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. The University of Hong Kong
  3. Tuen Mun Hospital
  4. Anhui Medical University
  5. Queen Elizabeth Hospital Hong Kong
  6. Chulalongkorn University
  7. Pamela Youde Nethersole Eastern Hospital
  8. Anhui Provincial Hospital
  9. Renji Hospital
  10. Chinese University of Hong Kong
DC FieldValueLanguage
dc.contributor.authorLi, Ren_HK
dc.contributor.authorYang, Wen_HK
dc.contributor.authorZhang, Jen_HK
dc.contributor.authorHirankarn, Nen_HK
dc.contributor.authorPan, HFen_HK
dc.contributor.authorMok, CCen_HK
dc.contributor.authorChan, TMen_HK
dc.contributor.authorWong, Ren_HK
dc.contributor.authorMok, MYen_HK
dc.contributor.authorLee, KWen_HK
dc.contributor.authorWong, SNen_HK
dc.contributor.authorLeung, Aen_HK
dc.contributor.authorLi, XPen_HK
dc.contributor.authorAvihingsanon, Yen_HK
dc.contributor.authorLee, TLen_HK
dc.contributor.authorHo, Men_HK
dc.contributor.authorLee, Pen_HK
dc.contributor.authorWong, Wen_HK
dc.contributor.authorWong, CMen_HK
dc.contributor.authorNg, Ien_HK
dc.contributor.authorYang, Jen_HK
dc.contributor.authorLi, PHen_HK
dc.contributor.authorZhang, Yen_HK
dc.contributor.authorZhang, Len_HK
dc.contributor.authorLi, Wen_HK
dc.contributor.authorBaum, Len_HK
dc.contributor.authorKwan, Pen_HK
dc.contributor.authorRianthavorn, Pen_HK
dc.contributor.authorDeekajorndej, Ten_HK
dc.contributor.authorSuphapeetiporn, Ken_HK
dc.contributor.authorShotelersuk, Ven_HK
dc.contributor.authorGarciaBarceló, MMen_HK
dc.contributor.authorCherny, SSen_HK
dc.contributor.authorTam, PHen_HK
dc.contributor.authorSham, PCen_HK
dc.contributor.authorLau, CSen_HK
dc.contributor.authorShen, Nen_HK
dc.contributor.authorLau, YLen_HK
dc.contributor.authorYe, DQen_HK
dc.date.accessioned2012-03-27T09:01:20Z-
dc.date.available2012-03-27T09:01:20Z-
dc.date.issued2012en_HK
dc.identifier.citationLupus, 2012, v. 21 n. 1, p. 75-83en_HK
dc.identifier.issn0961-2033en_HK
dc.identifier.urihttp://hdl.handle.net/10722/145896-
dc.description.abstractObjective: Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease with complex genetic inheritance. CD247 (CD3Z, TCRZ) plays a vital role in antigen recognition and signal transduction in antigen-specific immune responses, and is known to be involved in SLE pathogenesis. Weak disease association was reported for genetic variants in this gene in Caucasian studies for SLE, Crohn's disease and systemic sclerosis, but its role as a genetic risk factor was never firmly established. Methods: In this study, using a collection of 612 SLE patients and 2193 controls of Chinese ethnicity living in Hong Kong in a genome-wide study, single nucleotide polymorphisms (SNPs) in and around CD247 were identified as being associated with SLE. The two most significant SNPs in this locus were selected for further replication using TaqMan genotyping assay in 3339 Asian patients from Hong Kong, Mainland China, and Thailand, as well as 4737 ethnically and geographically matched controls. Results: The association of CD247 with SLE in Asian populations was confirmed (rs704853: odds ratio [OR] = 0. 81, p = 2.47 × 10-7; rs858543: OR = 1.10, p = 0.0048). Patient-only analysis suggested that rs704853 is also linked to oral ulcers, hematologic disorders and anti-double-stranded DNA (dsDNA) antibody production. Conclusion: A significant association between variants in CD247 and SLE was demonstrated in Asian populations. Understanding the involvement of CD247 in SLE may shed new light on disease mechanisms and development of new treatment paradigms. © The Author(s), 2011.en_HK
dc.languageengen_US
dc.publisherSage Publications Ltd. The Journal's web site is located at http://lup.sagepub.comen_HK
dc.relation.ispartofLupusen_HK
dc.rightsLupus. Copyright © Sage Publications Ltd.-
dc.subjectAsianen_HK
dc.subjectassociationen_HK
dc.subjectCD247en_HK
dc.subjectGWASen_HK
dc.subjectsystemic lupus erythematosusen_HK
dc.subject.meshAntigens, CD3 - genetics-
dc.subject.meshAsian Continental Ancestry Group - genetics-
dc.subject.meshGenetic Predisposition to Disease-
dc.subject.meshGenome-Wide Association Study-
dc.subject.meshLupus Erythematosus, Systemic - genetics - immunology-
dc.titleAssociation of CD247 with systemic lupus erythematosus in Asian populationsen_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.emailWong, CM: hrmrwcm@hku.hken_HK
dc.identifier.emailNg, I: iolng@hku.hken_HK
dc.identifier.emailGarciaBarceló, MM: mmgarcia@hku.hken_HK
dc.identifier.emailCherny, SS: cherny@hku.hken_HK
dc.identifier.emailSham, PC: pcsham@hku.hken_HK
dc.identifier.emailLau, CS: cslau@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.authorityWong, CM=rp00338en_HK
dc.identifier.authorityNg, I=rp00335en_HK
dc.identifier.authorityGarciaBarceló, MM=rp00445en_HK
dc.identifier.authorityCherny, SS=rp00232en_HK
dc.identifier.authoritySham, PC=rp00459en_HK
dc.identifier.authorityLau, CS=rp01348en_HK
dc.identifier.authorityLau, YL=rp00361en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1177/0961203311422724en_HK
dc.identifier.pmid22004975en_HK
dc.identifier.scopuseid_2-s2.0-83655172379en_HK
dc.identifier.hkuros185577en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-83655172379&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume21en_HK
dc.identifier.issue1en_HK
dc.identifier.spage75en_HK
dc.identifier.epage83en_HK
dc.identifier.isiWOS:000298038100009-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridLi, R=7404723086en_HK
dc.identifier.scopusauthoridYang, W=23101349500en_HK
dc.identifier.scopusauthoridZhang, J=53664640800en_HK
dc.identifier.scopusauthoridHirankarn, N=12783320200en_HK
dc.identifier.scopusauthoridPan, HF=35234356200en_HK
dc.identifier.scopusauthoridMok, CC=34668219600en_HK
dc.identifier.scopusauthoridChan, TM=7402687700en_HK
dc.identifier.scopusauthoridWong, R=8612000100en_HK
dc.identifier.scopusauthoridMok, MY=7006024184en_HK
dc.identifier.scopusauthoridLee, KW=53663842100en_HK
dc.identifier.scopusauthoridWong, SN=7404590305en_HK
dc.identifier.scopusauthoridLeung, A=35788888900en_HK
dc.identifier.scopusauthoridLi, XP=54783026900en_HK
dc.identifier.scopusauthoridAvihingsanon, Y=6506712307en_HK
dc.identifier.scopusauthoridLee, TL=8508917400en_HK
dc.identifier.scopusauthoridHo, M=36554116300en_HK
dc.identifier.scopusauthoridLee, P=54782819300en_HK
dc.identifier.scopusauthoridWong, W=35789454600en_HK
dc.identifier.scopusauthoridWong, CM=7404954904en_HK
dc.identifier.scopusauthoridNg, I=7102753722en_HK
dc.identifier.scopusauthoridYang, J=53664678600en_HK
dc.identifier.scopusauthoridLi, PH=35788992300en_HK
dc.identifier.scopusauthoridZhang, Y=53664634900en_HK
dc.identifier.scopusauthoridZhang, L=54783794900en_HK
dc.identifier.scopusauthoridLi, W=54782819900en_HK
dc.identifier.scopusauthoridBaum, L=7103310839en_HK
dc.identifier.scopusauthoridKwan, P=7004369601en_HK
dc.identifier.scopusauthoridRianthavorn, P=34067842100en_HK
dc.identifier.scopusauthoridDeekajorndej, T=46061875400en_HK
dc.identifier.scopusauthoridSuphapeetiporn, K=16064929100en_HK
dc.identifier.scopusauthoridShotelersuk, V=7003738743en_HK
dc.identifier.scopusauthoridGarciaBarceló, MM=6701767303en_HK
dc.identifier.scopusauthoridCherny, SS=7004670001en_HK
dc.identifier.scopusauthoridTam, PH=54783456900en_HK
dc.identifier.scopusauthoridSham, PC=34573429300en_HK
dc.identifier.scopusauthoridLau, CS=14035682100en_HK
dc.identifier.scopusauthoridShen, N=7102785475en_HK
dc.identifier.scopusauthoridLau, YL=7201403380en_HK
dc.identifier.scopusauthoridYe, DQ=24588340700en_HK

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