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Article: Association of CD247 with systemic lupus erythematosus in Asian populations
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TitleAssociation of CD247 with systemic lupus erythematosus in Asian populations
 
AuthorsLi, R4
Yang, W2
Zhang, J2
Hirankarn, N6
Pan, HF4
Mok, CC3
Chan, TM2
Wong, R2
Mok, MY2
Lee, KW7
Wong, SN3
Leung, A5
Li, XP8
Avihingsanon, Y6
Lee, TL2
Ho, M2
Lee, P2
Wong, W2
Wong, CM1
Ng, I1
Yang, J2
Li, PH2
Zhang, Y2
Zhang, L2
Li, W4
Baum, L10
Kwan, P10
Rianthavorn, P6
Deekajorndej, T6
Suphapeetiporn, K6
Shotelersuk, V6
GarciaBarceló, MM1
Cherny, SS1
Tam, PH1
Sham, PC1
Lau, CS2
Shen, N9
Lau, YL2
Ye, DQ4
 
KeywordsAsian
association
CD247
GWAS
systemic lupus erythematosus
 
Issue Date2012
 
PublisherSage Publications Ltd. The Journal's web site is located at http://lup.sagepub.com
 
CitationLupus, 2012, v. 21 n. 1, p. 75-83 [How to Cite?]
DOI: http://dx.doi.org/10.1177/0961203311422724
 
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.
 
ISSN0961-2033
2013 Impact Factor: 2.481
 
DOIhttp://dx.doi.org/10.1177/0961203311422724
 
ISI Accession Number IDWOS:000298038100009
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.

 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorLi, R
 
dc.contributor.authorYang, W
 
dc.contributor.authorZhang, J
 
dc.contributor.authorHirankarn, N
 
dc.contributor.authorPan, HF
 
dc.contributor.authorMok, CC
 
dc.contributor.authorChan, TM
 
dc.contributor.authorWong, R
 
dc.contributor.authorMok, MY
 
dc.contributor.authorLee, KW
 
dc.contributor.authorWong, SN
 
dc.contributor.authorLeung, A
 
dc.contributor.authorLi, XP
 
dc.contributor.authorAvihingsanon, Y
 
dc.contributor.authorLee, TL
 
dc.contributor.authorHo, M
 
dc.contributor.authorLee, P
 
dc.contributor.authorWong, W
 
dc.contributor.authorWong, CM
 
dc.contributor.authorNg, I
 
dc.contributor.authorYang, J
 
dc.contributor.authorLi, PH
 
dc.contributor.authorZhang, Y
 
dc.contributor.authorZhang, L
 
dc.contributor.authorLi, W
 
dc.contributor.authorBaum, L
 
dc.contributor.authorKwan, P
 
dc.contributor.authorRianthavorn, P
 
dc.contributor.authorDeekajorndej, T
 
dc.contributor.authorSuphapeetiporn, K
 
dc.contributor.authorShotelersuk, V
 
dc.contributor.authorGarciaBarceló, MM
 
dc.contributor.authorCherny, SS
 
dc.contributor.authorTam, PH
 
dc.contributor.authorSham, PC
 
dc.contributor.authorLau, CS
 
dc.contributor.authorShen, N
 
dc.contributor.authorLau, YL
 
dc.contributor.authorYe, DQ
 
dc.date.accessioned2012-03-27T09:01:20Z
 
dc.date.available2012-03-27T09:01:20Z
 
dc.date.issued2012
 
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.
 
dc.description.naturelink_to_subscribed_fulltext
 
dc.identifier.citationLupus, 2012, v. 21 n. 1, p. 75-83 [How to Cite?]
DOI: http://dx.doi.org/10.1177/0961203311422724
 
dc.identifier.doihttp://dx.doi.org/10.1177/0961203311422724
 
dc.identifier.epage83
 
dc.identifier.hkuros185577
 
dc.identifier.isiWOS:000298038100009
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.

 
dc.identifier.issn0961-2033
2013 Impact Factor: 2.481
 
dc.identifier.issue1
 
dc.identifier.pmid22004975
 
dc.identifier.scopuseid_2-s2.0-83655172379
 
dc.identifier.spage75
 
dc.identifier.urihttp://hdl.handle.net/10722/145896
 
dc.identifier.volume21
 
dc.languageeng
 
dc.publisherSage Publications Ltd. The Journal's web site is located at http://lup.sagepub.com
 
dc.publisher.placeUnited Kingdom
 
dc.relation.ispartofLupus
 
dc.relation.referencesReferences in Scopus
 
dc.rightsLupus. Copyright © Sage Publications Ltd.
 
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.subjectAsian
 
dc.subjectassociation
 
dc.subjectCD247
 
dc.subjectGWAS
 
dc.subjectsystemic lupus erythematosus
 
dc.titleAssociation of CD247 with systemic lupus erythematosus in Asian populations
 
dc.typeArticle
 
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<contributor.author>Hirankarn, N</contributor.author>
<contributor.author>Pan, HF</contributor.author>
<contributor.author>Mok, CC</contributor.author>
<contributor.author>Chan, TM</contributor.author>
<contributor.author>Wong, R</contributor.author>
<contributor.author>Mok, MY</contributor.author>
<contributor.author>Lee, KW</contributor.author>
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<contributor.author>Avihingsanon, Y</contributor.author>
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<contributor.author>Yang, J</contributor.author>
<contributor.author>Li, PH</contributor.author>
<contributor.author>Zhang, Y</contributor.author>
<contributor.author>Zhang, L</contributor.author>
<contributor.author>Li, W</contributor.author>
<contributor.author>Baum, L</contributor.author>
<contributor.author>Kwan, P</contributor.author>
<contributor.author>Rianthavorn, P</contributor.author>
<contributor.author>Deekajorndej, T</contributor.author>
<contributor.author>Suphapeetiporn, K</contributor.author>
<contributor.author>Shotelersuk, V</contributor.author>
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<description.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&apos;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 &#215; 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. &#169; The Author(s), 2011.</description.abstract>
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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