Association of CD247 with systemic lupus erythematosus in Asian populations

R. Li; W. Yang; J. Zhang; N. Hirankarn; H. F. Pan; C. C. Mok; T. M. Chan; R. W. S. Wong; M. Y. Mok; K. W. Lee; S. N. Wong; A. M. H. Leung; X. P. Li; Y. Avihingsanon; T. L. Lee; M. H. K. Ho; P. P. W. Lee; WHS Wong; C. M. Wong; IOL Ng; J. Yang; P. H. Li; Y. Zhang; Lu Zhang; W. Li; L. Baum; P. Kwan; P. Rianthavorn; T. Deekajorndej; K. Suphapeetiporn; V. Shotelersuk; M. M. Garcia-Barceló; S. S. Cherny; PK-H. Tam; P. C. Sham; C. S. Lau; N. Shen; Yu Lung Lau; Dong-Qing Ye

doi:10.1177/0961203311422724

Association of CD247 with systemic lupus erythematosus in Asian populations

R. Li, W. Yang, J. Zhang, N. Hirankarn, H. F. Pan, C. C. Mok, T. M. Chan, R. W. S. Wong, M. Y. Mok, K. W. Lee, S. N. Wong, A. M. H. Leung, X. P. Li, Y. Avihingsanon, T. L. Lee, M. H. K. Ho, P. P. W. Lee, WHS Wong, C. M. Wong, IOL NgJ. Yang, P. H. Li, Y. Zhang, Lu Zhang, W. Li, L. Baum, P. Kwan, P. Rianthavorn, T. Deekajorndej, K. Suphapeetiporn, V. Shotelersuk, M. M. Garcia-Barceló, S. S. Cherny, PK-H. Tam, P. C. Sham, C. S. Lau, N. Shen, Yu Lung Lau^*, Dong-Qing Ye^*

^*Corresponding author for this work

Department of Computer Science

Research output: Contribution to journal › Journal article › peer-review

33 Citations (Scopus)

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.

Original language	English
Pages (from-to)	75-83
Number of pages	9
Journal	Lupus
Volume	21
Issue number	1
Early online date	17 Oct 2011
DOIs	https://doi.org/10.1177/0961203311422724
Publication status	Published - Jan 2012

Scopus Subject Areas

Rheumatology

User-Defined Keywords

Asian
association
CD247
GWAS
systemic lupus erythematosus

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10.1177/0961203311422724

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Li, R., Yang, W., Zhang, J., Hirankarn, N., Pan, H. F., Mok, C. C., Chan, T. M., Wong, R. W. S., Mok, M. Y., Lee, K. W., Wong, S. N., Leung, A. M. H., Li, X. P., Avihingsanon, Y., Lee, T. L., Ho, M. H. K., Lee, P. P. W., Wong, WHS., Wong, C. M., ... Ye, D.-Q. (2012). Association of CD247 with systemic lupus erythematosus in Asian populations. Lupus, 21(1), 75-83. https://doi.org/10.1177/0961203311422724

@article{a2a5f0dea03648de96269da543017bb5,

title = "Association of CD247 with systemic lupus erythematosus in Asian populations",

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.",

keywords = "Asian, association, CD247, GWAS, systemic lupus erythematosus",

author = "R. Li and W. Yang and J. Zhang and N. Hirankarn and Pan, {H. F.} and Mok, {C. C.} and Chan, {T. M.} and Wong, {R. W. S.} and Mok, {M. Y.} and Lee, {K. W.} and Wong, {S. N.} and Leung, {A. M. H.} and Li, {X. P.} and Y. Avihingsanon and Lee, {T. L.} and Ho, {M. H. K.} and Lee, {P. P. W.} and WHS Wong and Wong, {C. M.} and IOL Ng and J. Yang and Li, {P. H.} and Y. Zhang and Lu Zhang and W. Li and L. Baum and P. Kwan and P. Rianthavorn and T. Deekajorndej and K. Suphapeetiporn and V. Shotelersuk and Garcia-Barcel{\'o}, {M. M.} and Cherny, {S. S.} and PK-H. Tam and Sham, {P. C.} and Lau, {C. S.} and N. Shen and Lau, {Yu Lung} and Dong-Qing Ye",

year = "2012",

month = jan,

doi = "10.1177/0961203311422724",

language = "English",

volume = "21",

pages = "75--83",

journal = "Lupus",

issn = "0961-2033",

publisher = "SAGE Publications Ltd",

number = "1",

}

Li, R, Yang, W, Zhang, J, Hirankarn, N, Pan, HF, Mok, CC, Chan, TM, Wong, RWS, Mok, MY, Lee, KW, Wong, SN, Leung, AMH, Li, XP, Avihingsanon, Y, Lee, TL, Ho, MHK, Lee, PPW, Wong, WHS, Wong, CM, Ng, IOL, Yang, J, Li, PH, Zhang, Y, Zhang, L, Li, W, Baum, L, Kwan, P, Rianthavorn, P, Deekajorndej, T, Suphapeetiporn, K, Shotelersuk, V, Garcia-Barceló, MM, Cherny, SS, Tam, PK-H, Sham, PC, Lau, CS, Shen, N, Lau, YL & Ye, D-Q 2012, 'Association of CD247 with systemic lupus erythematosus in Asian populations', Lupus, vol. 21, no. 1, pp. 75-83. https://doi.org/10.1177/0961203311422724

TY - JOUR

T1 - Association of CD247 with systemic lupus erythematosus in Asian populations

AU - Li, R.

AU - Yang, W.

AU - Zhang, J.

AU - Hirankarn, N.

AU - Pan, H. F.

AU - Mok, C. C.

AU - Chan, T. M.

AU - Wong, R. W. S.

AU - Mok, M. Y.

AU - Lee, K. W.

AU - Wong, S. N.

AU - Leung, A. M. H.

AU - Li, X. P.

AU - Avihingsanon, Y.

AU - Lee, T. L.

AU - Ho, M. H. K.

AU - Lee, P. P. W.

AU - Wong, WHS

AU - Wong, C. M.

AU - Ng, IOL

AU - Yang, J.

AU - Li, P. H.

AU - Zhang, Y.

AU - Zhang, Lu

AU - Li, W.

AU - Baum, L.

AU - Kwan, P.

AU - Rianthavorn, P.

AU - Deekajorndej, T.

AU - Suphapeetiporn, K.

AU - Shotelersuk, V.

AU - Garcia-Barceló, M. M.

AU - Cherny, S. S.

AU - Tam, PK-H.

AU - Sham, P. C.

AU - Lau, C. S.

AU - Shen, N.

AU - Lau, Yu Lung

AU - Ye, Dong-Qing

PY - 2012/1

Y1 - 2012/1

N2 - 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.

AB - 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.

KW - Asian

KW - association

KW - CD247

KW - GWAS

KW - systemic lupus erythematosus

UR - http://www.scopus.com/inward/record.url?scp=83655172379&partnerID=8YFLogxK

U2 - 10.1177/0961203311422724

DO - 10.1177/0961203311422724

M3 - Journal article

AN - SCOPUS:83655172379

SN - 0961-2033

VL - 21

SP - 75

EP - 83

JO - Lupus

JF - Lupus

IS - 1

ER -

Association of CD247 with systemic lupus erythematosus in Asian populations

Abstract

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