Association of TNFAIP3 Polymorphism with Susceptibility to Systemic Lupus Erythematosus in a Japanese Population

被引：31

作者：

Kawasaki, Aya ^{[1
]}

Ito, Ikue ^{[1
]}

Ito, Satoshi ^{[2
]}

Hayashi, Taichi ^{[2
]}

Goto, Daisuke ^{[2
]}

Matsumoto, Isao ^{[2
]}

Takasaki, Yoshinari ^{[3
]}

Hashimoto, Hiroshi ^{[4
]}

Sumida, Takayuki ^{[2
]}

Tsuchiya, Naoyuki ^{[1
]}

机构：

[1] Univ Tsukuba, Grad Sch Comprehens Human Sci, Doctoral Program Life Syst Med Sci, Tsukuba, Ibaraki 3058575, Japan

[2] Univ Tsukuba, Grad Sch Comprehens Human Sci, Doctoral Program Clin Sci, Div Clin Immunol, Tsukuba, Ibaraki 3058575, Japan

[3] Juntendo Univ, Dept Internal Med, Div Rheumatol, Bunkyo Ku, Tokyo 1138421, Japan

[4] Juntendo Univ, Sch Med, Bunkyo Ku, Tokyo 1138421, Japan

来源：

JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY | 2010年

基金：

日本学术振兴会;

关键词：

KAPPA-B; RISK; REPLICATION; REGION; 6Q23; LOCI; A20;

D O I：

10.1155/2010/207578

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Recent genome-wide association studies demonstrated association of single nucleotide polymorphisms (SNPs) in the TNFAIP3 region at 6q23 with systemic lupus erythematosus (SLE) in European-American populations. In this study, we investigated whether SNPs in the TNFAIP3 region are associated with SLE also in a Japanese population. A case-control association study was performed on the SNPs rs13192841, rs2230926, and rs6922466 in 318 Japanese SLE patients and 444 healthy controls. Association of rs2230926 G allele with SLE was replicated in Japanese (allelic association P = .033, odds ratio [OR] 1.47, recessive model P = .023, OR 8.52). The association was preferentially observed in the SLE patients with nephritis. When the TNFAIP3 mRNA levels of the HapMap samples were examined using GENEVAR database, the presence of TNFAIP3 rs2230926 G allele was associated with lower mRNA expression of TNFAIP3 (P = .013). These results indicated that TNFAIP3 is a susceptibility gene to SLE both in the Caucasian and Asian populations.

引用

页数：5

共 19 条

[1] Meta-analysis and imputation identifies a 109 kb risk haplotype spanning TNFAIP3 associated with lupus nephritis and hematologic manifestations [J].

Bates, J. S. ;

Lessard, C. J. ;

Leon, J. M. ;

Nguyen, T. ;

Battiest, L. J. ;

Rodgers, J. ;

Kaufman, K. M. ;

James, J. A. ;

Gilkeson, G. S. ;

Kelly, J. A. ;

Humphrey, M. B. ;

Harley, J. B. ;

Gray-McGuire, C. ;

Moser, K. L. ;

Gaffney, P. M. .

GENES AND IMMUNITY, 2009, 10 (05) :470-477

[2] Tag polymorphisms at the A20 (TNFAIP3) locus are associated with lower gene expression and increased risk of coronary artery disease in type 2 diabetes [J].

Boonyasrisawat, Watip ;

Eberle, Delphine ;

Bacci, Simonetta ;

Zhang, Yuan-Yuan ;

Nolan, David ;

Gervino, Ernest V. ;

Johnstone, Michael T. ;

Trischitta, Vincenzo ;

Shoelson, Steven E. ;

Doria, Alessandro .

DIABETES, 2007, 56 (02) :499-505

[3] Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls [J].

Burton, Paul R. ;

Clayton, David G. ;

Cardon, Lon R. ;

Craddock, Nick ;

Deloukas, Panos ;

Duncanson, Audrey ;

Kwiatkowski, Dominic P. ;

McCarthy, Mark I. ;

Ouwehand, Willem H. ;

Samani, Nilesh J. ;

Todd, John A. ;

Donnelly, Peter ;

Barrett, Jeffrey C. ;

Davison, Dan ;

Easton, Doug ;

Evans, David ;

Leung, Hin-Tak ;

Marchini, Jonathan L. ;

Morris, Andrew P. ;

Spencer, Chris C. A. ;

Tobin, Martin D. ;

Attwood, Antony P. ;

Boorman, James P. ;

Cant, Barbara ;

Everson, Ursula ;

Hussey, Judith M. ;

Jolley, Jennifer D. ;

Knight, Alexandra S. ;

Koch, Kerstin ;

Meech, Elizabeth ;

Nutland, Sarah ;

Prowse, Christopher V. ;

Stevens, Helen E. ;

Taylor, Niall C. ;

Walters, Graham R. ;

Walker, Neil M. ;

Watkins, Nicholas A. ;

Winzer, Thilo ;

Jones, Richard W. ;

McArdle, Wendy L. ;

Ring, Susan M. ;

Strachan, David P. ;

Pembrey, Marcus ;

Breen, Gerome ;

St Clair, David ;

Caesar, Sian ;

Gordon-Smith, Katherine ;

Jones, Lisa ;

Fraser, Christine ;

Green, Elain K. .

NATURE, 2007, 447 (7145) :661-678

[4] A20: Central Gatekeeper in Inflammation and Immunity [J].

Coornaert, Beatrice ;

Carpentier, Isabelle ;

Beyaert, Rudi .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2009, 284 (13) :8217-8221

[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] 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

[7] Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus [J].

Han, Jian-Wen ;

Zheng, Hou-Feng ;

Cui, Yong ;

Sun, Liang-Dan ;

Ye, Dong-Qing ;

Hu, Zhi ;

Xu, Jin-Hua ;

Cai, Zhi-Ming ;

Huang, Wei ;

Zhao, Guo-Ping ;

Xie, Hong-Fu ;

Fang, Hong ;

Lu, Qian-Jin ;

Xu, Jian-Hua ;

Li, Xiang-Pei ;

Pan, Yun-Feng ;

Deng, Dan-Qi ;

Zeng, Fan-Qin ;

Ye, Zhi-Zhong ;

Zhang, Xiao-Yan ;

Wang, Qing-Wen ;

Hao, Fei ;

Ma, Li ;

Zuo, Xian-Bo ;

Zhou, Fu-Sheng ;

Du, Wen-Hui ;

Cheng, Yi-Lin ;

Yang, Jian-Qiang ;

Shen, Song-Ke ;

Li, Jian ;

Sheng, Yu-Jun ;

Zuo, Xiao-Xia ;

Zhu, Wei-Fang ;

Gao, Fei ;

Zhang, Pei-Lian ;

Guo, Qing ;

Li, Bo ;

Gao, Min ;

Xiao, Feng-Li ;

Quan, Cheng ;

Zhang, Chi ;

Zhang, Zheng ;

Zhu, Kun-Ju ;

Li, Yang ;

Hu, Da-Yan ;

Lu, Wen-Sheng ;

Huang, Jian-Lin ;

Liu, Sheng-Xiu ;

Li, Hui ;

Ren, Yun-Qing .

NATURE GENETICS, 2009, 41 (11) :1234-U98

[8] JS']JSNP: a database of common gene variations in the Japanese population [J].

Hirakawa, M ;

Tanaka, T ;

Hashimoto, Y ;

Kuroda, M ;

Takagi, T ;

Nakamura, Y .

NUCLEIC ACIDS RESEARCH, 2002, 30 (01) :158-162

[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] Replication of the Association Between the C8orf13-BLK Region and Systemic Lupus Erythematosus in a Japanese Population [J].

Ito, Ikue ;

Kawasaki, Aya ;

Ito, Satoshi ;

Hayashi, Taichi ;

Goto, Daisuke ;

Matsumoto, Isao ;

Tsutsumi, Akito ;

Hom, Geoffrey ;

Graham, Robert R. ;

Takasaki, Yoshinari ;

Hashimoto, Hiroshi ;

Ohashi, Jun ;

Behrens, Timothy W. ;

Sumida, Takayuki ;

Tsuchiya, Naoyuki .

ARTHRITIS AND RHEUMATISM, 2009, 60 (02) :553-558

← 1 2 →