Association of CD247 with systemic lupus erythematosus in Asian populations

被引：30

作者：

Li, R. ^{[1
]}

Yang, W. ^{[2
]}

Zhang, J. ^{[2
]}

Hirankarn, N. ^{[3
]}

Pan, H-F ^{[1
]}

Mok, C. C. ^{[4
]}

Chan, T. M. ^{[5
]}

Wong, R. W. S. ^{[5
]}

Mok, M. Y. ^{[5
]}

Lee, K. W. ^{[6
]}

Wong, S. N. ^{[7
]}

Leung, A. M. H. ^{[8
]}

Li, X-P ^{[9
]}

Avihingsanon, Y. ^{[10
]}

Lee, T. L. ^{[2
]}

Ho, M. H. K. ^{[2
]}

Lee, P. P. W. ^{[2
]}

Wong, W. H. S.

Wong, C-M ^{[11
]}

Ng, I. O. L. ^{[11
]}

Yang, J. ^{[2
]}

Li, P. H. ^{[2
]}

Zhang, Y. ^{[2
]}

Zhang, L. ^{[2
]}

Li, W. ^{[1
]}

Baum, L. ^{[12
]}

Kwan, P. ^{[13
]}

Rianthavorn, P. ^{[14
]}

Deekajorndej, T. ^{[14
]}

Suphapeetiporn, K. ^{[14
]}

Shotelersuk, V. ^{[14
]}

Garcia-Barcelo, M-M ^{[15
]}

Cherny, S. S. ^{[16
]}

Tam, P. K-H ^{[15
]}

Sham, P. C. ^{[16
]}

Lau, C. S.

Shen, N. ^{[17
,18
,19
]}

Lau, Y. L. ^{[2
]}

Ye, D-Q ^{[1
]}

机构：

[1] Anhui Med Univ, Sch Publ Hlth, Dept Epidemiol & Biostat, Hefei, Peoples R China

[2] Univ Hong Kong, LKS Fac Med, Queen Mary Hosp, Dept Paediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China

[3] Chulalongkorn Univ, Fac Med, Dept Microbiol, Lupus Res Unit, Bangkok 10330, Thailand

[4] Tuen Mun Hosp, Dept Med, Hong Kong, Hong Kong, Peoples R China

[5] Univ Hong Kong, Queen Mary Hosp, LKS Fac Med, Dept Med, Hong Kong, Hong Kong, Peoples R China

[6] Pamela Youde Nethersole Eastern Hosp, Dept Med, Hong Kong, Hong Kong, Peoples R China

[7] Tuen Mun Hosp, Dept Paediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China

[8] Queen Elizabeth Hosp, Dept Med, Hong Kong, Hong Kong, Peoples R China

[9] Anhui Prov Hosp, Dept Rheumatol, Hefei, Peoples R China

[10] Chulalongkorn Univ, Dept Med, Fac Med, Bangkok 10330, Thailand

[11] Univ Hong Kong, LKS Fac Med, Dept Pathol, Hong Kong, Hong Kong, Peoples R China

[12] Chinese Univ Hong Kong, Sch Pharm, Hong Kong, Hong Kong, Peoples R China

[13] Chinese Univ Hong Kong, Dept Med & Therapeut, Hong Kong, Hong Kong, Peoples R China

[14] Chulalongkorn Univ, Fac Med, Dept Pediat, Bangkok 10330, Thailand

[15] Univ Hong Kong, LKS Fac Med, Dept Surg, Hong Kong, Hong Kong, Peoples R China

[16] Univ Hong Kong, LKS Fac Med, Dept Psychiat, Hong Kong, Hong Kong, Peoples R China

[17] Shanghai Jiao Tong Univ, Sch Med, Joint Mol Rheumatol Lab, Inst Hlth Sci, Shanghai, Peoples R China

[18] Shanghai Jiao Tong Univ, Sch Med, Shanghai Renji Hosp, Shanghai, Peoples R China

[19] Chinese Acad Sci, Shanghai Inst Biol Sci, Beijing 100864, Peoples R China

来源：

LUPUS | 2012年 / 21卷 / 01期

基金：

中国国家自然科学基金;

关键词：

CD247; GWAS; Asian; association; systemic lupus erythematosus; GENOME-WIDE ASSOCIATION; HONG-KONG CHINESE; ZETA-CHAIN; RISK; SUSCEPTIBILITY; EXPRESSION; ITGAM; GENE; PHOSPHORYLATION; POLYMORPHISM;

D O I：

10.1177/0961203311422724

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

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 x 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. Lupus (2012) 21, 75-83.

引用

页码：75 / 83

页数：9

共 31 条

[1]

STUDIES IN FAMILIAL SYSTEMIC LUPUS-ERYTHEMATOSUS [J].

ARNETT, FC ;

SHULMAN, LE .

MEDICINE, 1976, 55 (04) :313-322

[2]

Tcr ζ-chain downregulation:: Curtailing an excessive inflammatory immune response [J].

Baniyash, M .

NATURE REVIEWS IMMUNOLOGY, 2004, 4 (09) :675-687

[3]

Haploview: analysis and visualization of LD and haplotype maps [J].

Barrett, JC ;

Fry, B ;

Maller, J ;

Daly, MJ .

BIOINFORMATICS, 2005, 21 (02) :263-265

[4]

Epidemiology of systemic lupus erythematosus: a comparison of worldwide disease burden [J].

Danchenko, N ;

Satia, J ;

Anthony, M .

LUPUS, 2006, 15 (05) :308-318

[5]

A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus [J].

Gateva, Vesela ;

Sandling, Johanna K. ;

Hom, Geoff ;

Taylor, Kimberly E. ;

Chung, Sharon A. ;

Sun, Xin ;

Ortmann, Ward ;

Kosoy, Roman ;

Ferreira, Ricardo C. ;

Nordmark, Gunnel ;

Gunnarsson, Iva ;

Svenungsson, Elisabet ;

Padyukov, Leonid ;

Sturfelt, Gunnar ;

Jonsen, Andreas ;

Bengtsson, Anders A. ;

Rantapaa-Dahlqvist, Solbritt ;

Baechler, Emily C. ;

Brown, Elizabeth E. ;

Alarcon, Graciela S. ;

Edberg, Jeffrey C. ;

Ramsey-Goldman, Rosalind ;

McGwin, Gerald, Jr. ;

Reveille, John D. ;

Vila, Luis M. ;

Kimberly, Robert P. ;

Manzi, Susan ;

Petri, Michelle A. ;

Lee, Annette ;

Gregersen, Peter K. ;

Seldin, Michael F. ;

Ronnblom, Lars ;

Criswell, Lindsey A. ;

Syvanen, Ann-Christine ;

Behrens, Timothy W. ;

Graham, Robert R. .

NATURE GENETICS, 2009, 41 (11) :1228-U93

[6]

Polymorphisms in the CD3Z gene influence TCRζ expression in systemic lupus erythematosus patients and healthy controls [J].

Gorman, Claire L. ;

Russell, Andrew I. ;

Zhang, Zhuoli ;

Graham, Deborah Cunninghame ;

Cope, Andrew P. ;

Vyse, Timothy J. .

JOURNAL OF IMMUNOLOGY, 2008, 180 (02) :1060-1070

[7]

Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus [J].

Graham, Robert R. ;

Cotsapas, Chris ;

Davies, Leela ;

Hackett, Rachel ;

Lessard, Christopher J. ;

Leon, Joanlise M. ;

Burtt, Noel P. ;

Guiducci, Candace ;

Parkin, Melissa ;

Gates, Casey ;

Plenge, Robert M. ;

Behrens, Timothy W. ;

Wither, Joan E. ;

Rioux, John D. ;

Fortin, Paul R. ;

Graham, Deborah Cunninghame ;

Wong, Andrew K. ;

Vyse, Timothy J. ;

Daly, Mark J. ;

Altshuler, David ;

Moser, Kathy L. ;

Gaffney, Patrick M. .

NATURE GENETICS, 2008, 40 (09) :1059-1061

[8]

Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci [J].

Harley, John B. ;

Alarcon-Riquelme, Marta E. ;

Criswell, Lindsey A. ;

Jacob, Chaim O. ;

Kimberly, Robert P. ;

Moser, Kathy L. ;

Tsao, Betty P. ;

Vyse, Timothy J. ;

Langefeld, Carl D. .

NATURE GENETICS, 2008, 40 (02) :204-210

[9]

Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus [J].

Hochberg, MC .

ARTHRITIS AND RHEUMATISM, 1997, 40 (09) :1725-1725

[10]

Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX [J].

Hom, Geoffrey ;

Graham, Robert R. ;

Modrek, Barmak ;

Taylor, Kimberly E. ;

Ortmann, Ward ;

Garnier, Sophie ;

Lee, Annette T. ;

Chung, Sharon A. ;

Ferreira, Ricardo C. ;

Pant, P. V. Krishna ;

Ballinger, Dennis G. ;

Kosoy, Roman ;

Demirci, F. Yesim ;

Kamboh, M. Ilyas ;

Kao, Amy H. ;

Tian, Chao ;

Gunnarsson, Iva ;

Bengtsson, Anders A. ;

Rantapaa-Dahlqvist, Solbritt ;

Petri, Michelle ;

Manzi, Susan ;

Seldin, Michael F. ;

Ronnblom, Lars ;

Syvanen, Ann-Christine ;

Criswell, Lindsey A. ;

Gregersen, Peter K. ;

Behrens, Timothy W. .

NEW ENGLAND JOURNAL OF MEDICINE, 2008, 358 (09) :900-909

← 1 2 3 4 →