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Article: Genome-wide association study in asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus
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TitleGenome-wide association study in asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus
 
AuthorsYang, W1
Shen, N8
Ye, DQ3
Liu, Q1 9
Zhang, Y1
Qian, XX8
Hirankarn, N5
Ying, D1
Pan, HF3
Mok, CC2
Chan, TM1
Wong, RWS1
Lee, KW6
Mok, MY1
Wong, SN2
Leung, AMH4
Li, XP7
Avihingsanon, Y5
Wong, CM1
Lee, TL1
Ho, MHK1
Lee, PPW1
Chang, YK1
Li, PH1
Li, RJ1 3
Zhang, L1
Wong, WHS1
Ng, IOL1
Lau, CS1
Sham, PC1
Lau, YL1
 
Issue Date2010
 
PublisherPublic Library of Science. The Journal's web site is located at http://www.plosgenetics.org/
 
CitationPlos Genetics, 2010, v. 6 n. 2 [How to Cite?]
DOI: http://dx.doi.org/10.1371/journal.pgen.1000841
 
AbstractSystemic lupus erythematosus is a complex and potentially fatal autoimmune disease, characterized by autoantibody production and multi-organ damage. By a genome-wide association study (320 patients and 1,500 controls) and subsequent replication altogether involving a total of 3,300 Asian SLE patients from Hong Kong, Mainland China, and Thailand, as well as 4,200 ethnically and geographically matched controls, genetic variants in ETS1 and WDFY4 were found to be associated with SLE (ETS1: rs1128334, P = 2.33x10 -11, OR = 1.29; WDFY4: rs7097397, P = 8.15x10 -12, OR = 1.30). ETS1 encodes for a transcription factor known to be involved in a wide range of immune functions, including Th17 cell development and terminal differentiation of B lymphocytes. SNP rs1128334 is located in the 3'-UTR of ETS1, and allelic expression analysis from peripheral blood mononuclear cells showed significantly lower expression level from the risk allele. WDFY4 is a conserved protein with unknown function, but is predominantly expressed in primary and secondary immune tissues, and rs7097397 in WDFY4 changes an arginine residue to glutamine (R1816Q) in this protein. Our study also confirmed association of the HLA locus, STAT4, TNFSF4, BLK, BANK1, IRF5, and TNFAIP3 with SLE in Asians. These new genetic findings may help us to gain a better understanding of the disease and the functions of the genes involved. © 2010 Yang et al.
 
DescriptionAsian Lupus Genetics Consortium (ALGC)
 
ISSN1553-7390
2012 SCImago Journal Rankings: 5.375
 
DOIhttp://dx.doi.org/10.1371/journal.pgen.1000841
 
PubMed Central IDPMC2820522
 
ISI Accession Number IDWOS:000275262700021
Funding AgencyGrant Number
Research Grant Council of the Hong Kong GovernmentGRF HKU781709M
Dr Cheng Yu Tung's Fellowship, University of Hong Kong
Edward the Sai Kim Hotung Paediatric Education and Research Fund
University Postgraduate Studentship
National Basic Research Program of China2007CB947900
National High Technology Research and Development Program of China2007AA02Z123
National Natural Science Foundation of China30700734
30830089
Key Basic Program of the Shanghai Commission of Science and Technology06JC14050
08JC1414700
Program of Shanghai Subject07XD14021
National Research Council of Thailand
Funding Information:

This study was partially supported by the generous donation from Shun Tak District Min Yuen Tong of Hong Kong (to YLL). WY thanks support from Research Grant Council of the Hong Kong Government (GRF HKU781709M). QL was supported by Dr Cheng Yu Tung's Fellowship through the Faculty of Medicine, University of Hong Kong. YZ is supported by Edward the Sai Kim Hotung Paediatric Education and Research Fund and University Postgraduate Studentship. NS thanks grant support from the following funding agencies: National Basic Research Program of China (2007CB947900), National High Technology Research and Development Program of China (2007AA02Z123), National Natural Science Foundation of China (30700734), Key Basic Program of the Shanghai Commission of Science and Technology (06JC14050, 08JC1414700), and Program of Shanghai Subject Chief Scientist (07XD14021). DQY thanks grant support from the key program of National Natural Science Foundation of China (No. 30830089). NH and YA thank support from the National Research Council of Thailand. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorYang, W
 
dc.contributor.authorShen, N
 
dc.contributor.authorYe, DQ
 
dc.contributor.authorLiu, Q
 
dc.contributor.authorZhang, Y
 
dc.contributor.authorQian, XX
 
dc.contributor.authorHirankarn, N
 
dc.contributor.authorYing, D
 
dc.contributor.authorPan, HF
 
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.authorLeung, AMH
 
dc.contributor.authorLi, XP
 
dc.contributor.authorAvihingsanon, Y
 
dc.contributor.authorWong, CM
 
dc.contributor.authorLee, TL
 
dc.contributor.authorHo, MHK
 
dc.contributor.authorLee, PPW
 
dc.contributor.authorChang, YK
 
dc.contributor.authorLi, PH
 
dc.contributor.authorLi, RJ
 
dc.contributor.authorZhang, L
 
dc.contributor.authorWong, WHS
 
dc.contributor.authorNg, IOL
 
dc.contributor.authorLau, CS
 
dc.contributor.authorSham, PC
 
dc.contributor.authorLau, YL
 
dc.date.accessioned2010-10-12T08:59:28Z
 
dc.date.available2010-10-12T08:59:28Z
 
dc.date.issued2010
 
dc.description.abstractSystemic lupus erythematosus is a complex and potentially fatal autoimmune disease, characterized by autoantibody production and multi-organ damage. By a genome-wide association study (320 patients and 1,500 controls) and subsequent replication altogether involving a total of 3,300 Asian SLE patients from Hong Kong, Mainland China, and Thailand, as well as 4,200 ethnically and geographically matched controls, genetic variants in ETS1 and WDFY4 were found to be associated with SLE (ETS1: rs1128334, P = 2.33x10 -11, OR = 1.29; WDFY4: rs7097397, P = 8.15x10 -12, OR = 1.30). ETS1 encodes for a transcription factor known to be involved in a wide range of immune functions, including Th17 cell development and terminal differentiation of B lymphocytes. SNP rs1128334 is located in the 3'-UTR of ETS1, and allelic expression analysis from peripheral blood mononuclear cells showed significantly lower expression level from the risk allele. WDFY4 is a conserved protein with unknown function, but is predominantly expressed in primary and secondary immune tissues, and rs7097397 in WDFY4 changes an arginine residue to glutamine (R1816Q) in this protein. Our study also confirmed association of the HLA locus, STAT4, TNFSF4, BLK, BANK1, IRF5, and TNFAIP3 with SLE in Asians. These new genetic findings may help us to gain a better understanding of the disease and the functions of the genes involved. © 2010 Yang et al.
 
dc.description.naturepublished_or_final_version
 
dc.descriptionAsian Lupus Genetics Consortium (ALGC)
 
dc.identifier.citationPlos Genetics, 2010, v. 6 n. 2 [How to Cite?]
DOI: http://dx.doi.org/10.1371/journal.pgen.1000841
 
dc.identifier.citeulike7100928
 
dc.identifier.doihttp://dx.doi.org/10.1371/journal.pgen.1000841
 
dc.identifier.eissn1553-7404
 
dc.identifier.hkuros170267
 
dc.identifier.isiWOS:000275262700021
Funding AgencyGrant Number
Research Grant Council of the Hong Kong GovernmentGRF HKU781709M
Dr Cheng Yu Tung's Fellowship, University of Hong Kong
Edward the Sai Kim Hotung Paediatric Education and Research Fund
University Postgraduate Studentship
National Basic Research Program of China2007CB947900
National High Technology Research and Development Program of China2007AA02Z123
National Natural Science Foundation of China30700734
30830089
Key Basic Program of the Shanghai Commission of Science and Technology06JC14050
08JC1414700
Program of Shanghai Subject07XD14021
National Research Council of Thailand
Funding Information:

This study was partially supported by the generous donation from Shun Tak District Min Yuen Tong of Hong Kong (to YLL). WY thanks support from Research Grant Council of the Hong Kong Government (GRF HKU781709M). QL was supported by Dr Cheng Yu Tung's Fellowship through the Faculty of Medicine, University of Hong Kong. YZ is supported by Edward the Sai Kim Hotung Paediatric Education and Research Fund and University Postgraduate Studentship. NS thanks grant support from the following funding agencies: National Basic Research Program of China (2007CB947900), National High Technology Research and Development Program of China (2007AA02Z123), National Natural Science Foundation of China (30700734), Key Basic Program of the Shanghai Commission of Science and Technology (06JC14050, 08JC1414700), and Program of Shanghai Subject Chief Scientist (07XD14021). DQY thanks grant support from the key program of National Natural Science Foundation of China (No. 30830089). NH and YA thank support from the National Research Council of Thailand. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

 
dc.identifier.issn1553-7390
2012 SCImago Journal Rankings: 5.375
 
dc.identifier.issue2
 
dc.identifier.openurl
 
dc.identifier.pmcidPMC2820522
 
dc.identifier.pmid20169177
 
dc.identifier.scopuseid_2-s2.0-77649206245
 
dc.identifier.urihttp://hdl.handle.net/10722/123949
 
dc.identifier.volume6
 
dc.languageeng
 
dc.publisherPublic Library of Science. The Journal's web site is located at http://www.plosgenetics.org/
 
dc.publisher.placeUnited States
 
dc.relation.ispartofPLoS Genetics
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshAsian Continental Ancestry Group - genetics
 
dc.subject.meshGenetic Predisposition to Disease
 
dc.subject.meshGenome-Wide Association Study
 
dc.subject.meshIntracellular Signaling Peptides and Proteins - genetics
 
dc.subject.meshLupus Erythematosus, Systemic - enzymology - genetics
 
dc.titleGenome-wide association study in asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus
 
dc.typeArticle
 
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<contributor.author>Zhang, Y</contributor.author>
<contributor.author>Qian, XX</contributor.author>
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Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. Tuen Mun Hospital
  3. Anhui Medical University
  4. Queen Elizabeth Hospital Hong Kong
  5. Chulalongkorn University
  6. Pamela Youde Nethersole Eastern Hospital
  7. Anhui Provincial Hospital
  8. Renji Hospital
  9. Shandong University School of Medicine