Genome-wide association study in asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus

PLoS Genetics

Volumn 6, Issue 2, 2010, Pages

  Yang, Wanling ^a   Shen, Nan ^b   Ye, Dong Qing ^c   Liu, Qiji ^a,d   Zhang, Yan ^a   Qian, Xiao Xia ^b   Hirankarn, Nattiya ^e   Ying, Dingge ^a   Pan, Hai Feng ^c   Mok, Chi Chiu ^f   Chan, Tak Mao ^a   Wong, Raymond Woon Sing ^a   Lee, Ka Wing ^g   Mok, Mo Yin ^a   Wong, Sik Nin ^f   Leung, Alexander Moon Ho ^h   Li, Xiang Pei ⁱ   Avihingsanon, Yingyos ^e   Wong, Chun Ming ^a   Lee, Tsz Leung ^a   Ho, Marco Hok Kung ^a   Lee, Pamela Pui Wah ^a   Chang, Yuk Kwan ^a   Li, Philip H ^a   Li, Ruo Jie ^a,c   Zhang, Lu ^a   Wong, Wilfred Hing Sang ^a   Ng, Irene Oi Lin ^a   Lau, Chak Sing ^a   Sham, Pak Chung ^a   Lau, Yu Lung ^a   more..

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^c ANHUI MEDICAL UNIVERSITY   (China)

^d SHANDONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^e CHULALONGKORN UNIVERSITY   (Thailand)

^f TUEN MUN HOSPITAL   (Hong Kong)

^g PAMELA YOUDE NETHERSOLE EASTERN HOSPITAL   (Hong Kong)

^h QUEEN ELIZABETH HOSPITAL   (Hong Kong)

ⁱ ANHUI PROVINCIAL HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; ARTICLE; B LYMPHOCYTE; CHINA; CONTROLLED STUDY; ETHNIC DIFFERENCE; ETS1 GENE; FEMALE; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOME ANALYSIS; HONG KONG; HUMAN; IMMUNE RESPONSE; MAJOR CLINICAL STUDY; MALE; POPULATION GENETICS; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS; THAILAND; WDFY4 GENE; ASIAN; COHORT ANALYSIS; ENZYMOLOGY; GENE LINKAGE DISEQUILIBRIUM; GENETIC PREDISPOSITION; GENETICS; HAPLOTYPE; METABOLISM; MONONUCLEAR CELL; PRINCIPAL COMPONENT ANALYSIS; REPRODUCIBILITY;

BANK1 PROTEIN, HUMAN; ETS1 PROTEIN, HUMAN; INTERFERON REGULATORY FACTOR; IRF5 PROTEIN, HUMAN; MEMBRANE PROTEIN; NUCLEAR PROTEIN; PROTEIN TYROSINE KINASE; PROTEIN TYROSINE KINASE P55(BLK); PROTEIN-TYROSINE KINASE P55(BLK); SIGNAL PEPTIDE; SIGNAL TRANSDUCING ADAPTOR PROTEIN; STAT4 PROTEIN; TNFAIP3 PROTEIN, HUMAN; TRANSCRIPTION FACTOR ETS 1; WDFY4 PROTEIN, HUMAN;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; COHORT STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HAPLOTYPES; HUMANS; INTERFERON REGULATORY FACTORS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LEUKOCYTES, MONONUCLEAR; LINKAGE DISEQUILIBRIUM; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MEMBRANE PROTEINS; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PRINCIPAL COMPONENT ANALYSIS; PROTO-ONCOGENE PROTEIN C-ETS-1; REPRODUCIBILITY OF RESULTS; SRC-FAMILY KINASES; STAT4 TRANSCRIPTION FACTOR;

EID: 77649206245     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1000841     Document Type: Article

References (52)

1. Sestak AL, Shaver TS, Moser KL, Neas BR, Harley JB (1999) Familial aggregation of lupus and autoimmunity in an unusual multiplex pedigree. J Rheumatol 26: 1495-1499.
2. Ramos-Niembro F, Alarcon-Segovia D (1978) Familial aspects of mixed connective tissue disease (MCTD). I. Occurrence of systemic lupus erythematosus in another member in two families and aggregation of MCTD in another family. J Rheumatol 5: 433-440.
3. Arnett FC, Shulman LE (1976) Studies in familial systemic lupus erythematosus. Medicine (Baltimore) 55: 313-322.
4. Mok CC, Lau CS (2003) Lupus in Hong Kong Chinese. Lupus 12: 717-722.
5. Wong SN, Tse KC, Lee TL, Lee KW, Chim S, et al. (2006) Lupus nephritis in Chinese children-a territory-wide cohort study in Hong Kong. Pediatr Nephrol 21: 1104-1112.
6. Remmers EF, Plenge RM, Lee AT, Graham RR, Hom G, et al. (2007) STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med 357: 977-986.
7. Harley JB, Alarcon-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP, et al. (2008) Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet 40: 204-210.
8. Hom G, Graham RR, Modrek B, Taylor KE, Ortmann W, et al. (2008) Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med 358: 900-909.
9. Nath SK, Han S, Kim-Howard X, Kelly JA, Viswanathan P, et al. (2008) A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus. Nat Genet 40: 152-154.
10. Kozyrev SV, Abelson AK, Wojcik J, Zaghlool A, Linga Reddy MV, et al. (2008) Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nat Genet 40: 211-216.
11. Graham RR, Cotsapas C, Davies L, Hackett R, Lessard CJ, et al. (2008) Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet.
12. Musone SL, Taylor KE, Lu TT, Nititham J, Ferreira RC, et al. (2008) Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus. Nat Genet.
13. Webb R, Merrill JT, Kelly JA, Sestak A, Kaufman KM, et al. (2009) A polymorphism within IL21R confers risk for systemic lupus erythematosus. Arthritis Rheum 60: 2402-2407.
14. Jacob CO, Zhu J, Armstrong DL, Yan M, Han J, et al. (2009) Identification of IRAK1 as a risk gene with critical role in the pathogenesis of systemic lupus erythematosus. Proc Natl Acad Sci U S A 106: 6256-6261.
15. Liu K, Li QZ, Delgado-Vega AM, Abelson AK, Sanchez E, et al. (2009) Kallikrein genes are associated with lupus and glomerular basement membrane-specific antibody-induced nephritis in mice and humans. J Clin Invest 119: 911-923.
16. Edberg JC, Wu J, Langefeld CD, Brown EE, Marion MC, et al. (2008) Genetic variation in the CRP promoter: association with systemic lupus erythematosus. Hum Mol Genet 17: 1147-1155.
17. Gateva V, Sandling JK, Hom G, Taylor KE, Chung SA, et al. (2009) A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nat Genet 41: 1228-1233.
18. Han JW, Zheng HF, Cui Y, Sun LD, Ye DQ, et al. (2009) Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. Nat Genet 41: 1234-1237.
19. Yang W, Ng P, Zhao M, Hirankarn N, Lau CS, et al. (2009) Population differences in SLE susceptibility genes: STAT4 and BLK, but not PXK, are associated with systemic lupus erythematosus in Hong Kong Chinese. Genes Immun 10: 219-226.
20. Kim I, Kim YJ, Kim K, Kang C, Choi CB, et al. (2009) Genetic studies of systemic lupus erythematosus in Asia: where are we now? Genes Immun.
21. Yang W, Zhao M, Hirankarn N, Lau CS, Mok CC, et al. (2009) ITGAM is associated with disease susceptibility and renal nephritis of systemic lupus erythematosus in Hong Kong Chinese and Thai. Hum Mol Genet 18: 2063-2070.
22. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, et al. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38: 904-909.
23. Cunninghame Graham DS, Graham RR, Manku H, Wong AK, Whittaker JC, et al. (2008) Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus. Nat Genet 40: 83-89.
24. Chang YK, Yang W, Zhao M, Mok CC, Chan TM, et al. (2009) Association of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chinese. Genes Immun 10: 414-420.
25. Siu HO, Yang W, Lau CS, Chan TM, Wong RW, et al. (2008) Association of a haplotype of IRF5 gene with systemic lupus erythematosus in Chinese. J Rheumatol 35: 360-362.
26. Chen J, Zheng H, Bei JX, Sun L, Jia WH, et al. (2009) Genetic Structure of the Han Chinese Population Revealed by Genome-wide SNP Variation. Am J Hum Genet.
27. Xu S, Yin X, Li S, Jin W, Lou H, et al. (2009) Genomic Dissection of Population Substructure of Han Chinese and Its Implication in Association Studies. Am J Hum Genet.
28. Dittmer J (2003) The biology of the Ets1 proto-oncogene. Mol Cancer 2: 29.
29. Wang D, John SA, Clements JL, Percy DH, Barton KP, et al. (2005) Ets-1 deficiency leads to altered B cell differentiation, hyperresponsiveness to TLR9 and autoimmune disease. Int Immunol 17: 1179-1191.
30. Maier H, Colbert J, Fitzsimmons D, Clark DR, Hagman J (2003) Activation of the early B-cell-specific mb-1 (Ig-alpha) gene by Pax-5 is dependent on an unmethylated Ets binding site. Mol Cell Biol 23: 1946-1960.
31. Garvie CW, Hagman J, Wolberger C (2001) Structural studies of Ets-1/Pax5 complex formation on DNA. Mol Cell 8: 1267-1276.
32. Pufall MA, Graves BJ (2002) Ets-1 flips for new partner Pax-5. Structure 10: 11-14.
33. Bories JC, Willerford DM, Grevin D, Davidson L, Camus A, et al. (1995) Increased T-cell apoptosis and terminal B-cell differentiation induced by inactivation of the Ets-1 proto-oncogene. Nature 377: 635-638.
34. John SA, Clements JL, Russell LM, Garrett-Sinha LA (2008) Ets-1 regulates plasma cell differentiation by interfering with the activity of the transcription factor Blimp-1. J Biol Chem 283: 951-962.
35. Jacobi AM, Odendahl M, Reiter K, Bruns A, Burmester GR, et al. (2003) Correlation between circulating CD27high plasma cells and disease activity in patients with systemic lupus erythematosus. Arthritis Rheum 48: 1332-1342.
36. Grammer AC, Lipsky PE (2003) B cell abnormalities in systemic lupus erythematosus. Arthritis Res Ther 5 Suppl 4: S22-27.
37. Moisan J, Grenningloh R, Bettelli E, Oukka M, Ho IC (2007) Ets-1 is a negative regulator of Th17 differentiation. J Exp Med 204: 2825-2835.
38. Bettelli E, Korn T, Kuchroo VK (2007) Th17: the third member of the effector T cell trilogy. Curr Opin Immunol 19: 652-657.
39. Wong CK, Ho CY, Li EK, Lam CW (2000) Elevation of proinflammatory cytokine (IL-18, IL-17, IL-12) and Th2 cytokine (IL-4) concentrations in patients with systemic lupus erythematosus. Lupus 9: 589-593.
40. Wong CK, Lit LC, Tam LS, Li EK, Wong PT, et al. (2008) Hyperproduction of IL-23 and IL-17 in patients with systemic lupus erythematosus: implications for Th17-mediated inflammation in auto-immunity. Clin Immunol 127: 385-393.
41. Yang J, Chu Y, Yang X, Gao D, Zhu L, et al. (2009) Th17 and natural Treg cell population dynamics in systemic lupus erythematosus. Arthritis Rheum 60: 1472-1483.
42. Hsu HC, Yang P, Wang J, Wu Q, Myers R, et al. (2008) Interleukin 17-producing T helper cells and interleukin 17 orchestrate autoreactive germinal center development in autoimmune BXD2 mice. Nat Immunol 9: 166-175.
43. Doreau A, Belot A, Bastid J, Riche B, Trescol-Biemont MC, et al. (2009) Interleukin 17 acts in synergy with B cell-activating factor to influence B cell biology and the pathophysiology of systemic lupus erythematosus. Nat Immunol 10: 778-785.
44. Ettinger R, Sims GP, Robbins R, Withers D, Fischer RT, et al. (2007) IL-21 and BAFF/BLyS synergize in stimulating plasma cell differentiation from a unique population of human splenic memory B cells. J Immunol 178: 2872-2882.
45. Bhat NK, Thompson CB, Lindsten T, June CH, Fujiwara S, et al. (1990) Reciprocal expression of human ETS1 and ETS2 genes during T-cell activation: regulatory role for the protooncogene ETS1. Proc Natl Acad Sci U S A 87: 3723-3727.
46. Du C, Liu C, Kang J, Zhao G, Ye Z, et al. (2009) MicroRNA miR-326 regulates TH-17 differentiation and is associated with the pathogenesis of multiple sclerosis. Nat Immunol 10: 1252-1259.
47. Tang Y, Luo X, Cui H, Ni X, Yuan M, et al. (2009) MicroRNA-146A contributes to abnormal activation of the type I interferon pathway in human lupus by targeting the key signaling proteins. Arthritis Rheum 60: 1065-1075.
48. Hochberg MC (1997) Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 40: 1725.
49. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.
50. Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265.
51. Ahmadian A, Gharizadeh B, Gustafsson AC, Sterky F, Nyren P, et al. (2000) Single-nucleotide polymorphism analysis by pyrosequencing. Anal Biochem 280: 103-110.
52. Sun KH, Tang SJ, Chen CY, Lee TP, Feng CK, et al. (2005) Monoclonal ribosomal P autoantibody inhibits the expression and release of IL-12, TNF-alpha and iNOS in activated RAW macrophage cell line. J Autoimmun 24: 135-143.