The genetics of Behcet's disease in a Chinese population

Frontiers of Medicine in China

Volumn 6, Issue 4, 2012, Pages 354-359

  Hou, Shengping ^a,b   Kijlstra, Aize ^c   Yang, Peizeng ^a,b  

^a THE FIRST AFFILIATED HOSPITAL OF CHONGQING MEDICAL UNIVERSITY   (China)

^b Chongqing Eye Institute and Chongqing Key Laboratory of Ophthalmology   (China)

^c MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Beh et's disease; genetic study; immune gene; SNPs

Indexed keywords

EID: 84870837281     PISSN: 16737342     EISSN: 16737458     Source Type: Journal    
DOI: 10.1007/s11684-012-0234-2     Document Type: Review

References (54)

1. Smyth DJ, Plagnol V, Walker NM, Cooper JD, Downes K, Yang JH, Howson JM, Stevens H, McManus R, Wijmenga C, Heap GA, Dubois PC, Clayton DG, Hunt KA, van Heel DA, Todd JA. Shared and distinct genetic variants in type 1 diabetes and celiac disease. N Engl J Med 2008; 359(26): 2767-2777.
2. Evereklioglu C. Current concepts in the etiology and treatment of Behçet disease. Surv Ophthalmol 2005; 50(4): 297-350.
3. James DG. Silk Route disease. Postgrad Med J 1986; 62(725): 151-153.
4. Yoshida A, Kawashima H, Motoyama Y, Shibui H, Kaburaki T, Shimizu K, Ando K, Hijikata K, Izawa Y, Hayashi K, Numaga J, Fujino Y, Masuda K, Araie M. Comparison of patients with Behçet's disease in the 1980s and 1990s. Ophthalmology 2004; 111(4): 810-815.
5. Yang P, Zhang Z, Zhou H, Li B, Huang X, Gao Y, Zhu L, Ren Y, Klooster J, Kijlstra A. Clinical patterns and characteristics of uveitis in a tertiary center for uveitis in China. Curr Eye Res 2005; 30(11): 943-948.
6. Escudier M, Bagan J, Scully C. Number VII Behçet's disease (Adamantiades syndrome). Oral Dis 2006; 12(2): 78-84.
7. Azizlerli G, Köse AA, Sarica R, Gül A, Tutkun IT, Kulaç M, Tunç R, Urgancioǧlu M, Dişçi R. Prevalence of Behçet's disease in Istanbul, Turkey. Int J Dermatol 2003; 42(10): 803-806.
8. Gül A. Behçet's disease as an autoinflammatory disorder. Curr Drug Targets Inflamm Allergy 2005; 4(1): 81-83.
9. Hou S, Yang P, Du L, Zhou H, Lin X, Liu X, Kijlstra A. SUMO4 gene polymorphisms in Chinese Han patients with Behçet's disease. Clin Immunol 2008; 129(1): 170-175.
10. de Menthon M, Lavalley MP, Maldini C, Guillevin L, Mahr A. HLA-B51/B5 and the risk of Behçet's disease: a systematic review and meta-analysis of case-control genetic association studies. Arthritis Rheum 2009; 61(10): 1287-1296.
11. Krause L, Köhler AK, Altenburg A, Papoutsis N, Zouboulis CC, Pleyer U, Stroux A, Foerster MH. Ocular involvement is associated with HLA-B51 in Adamantiades-Behçet's disease. Eye (Lond) 2009; 23(5): 1182-1186.
12. Gül A, Hajeer AH, Worthington J, Barrett JH, Ollier WE, Silman AJ. Evidence for linkage of the HLA-B locus in Behçet's disease, obtained using the transmission disequilibrium test. Arthritis Rheum 2001; 44(1): 239-240.
13. Mizuki N, Ota M, Katsuyama Y, Yabuki K, Ando H, Shiina T, Nomura E, Onari K, Ohno S, Inoko H. HLA-B*51 allele analysis by the PCR-SBT method and a strong association of HLA-B*5101 with Japanese patients with Behçet's disease. Tissue Antigens 2001; 58(3): 181-184.
14. Li H, Yang P, Jiang Z, Hou S, Xie L. Lack of association of two polymorphisms of IRF5 with Behçet's disease. Mol Vis 2009; 15: 2018-2021.
15. Kelly JA, Kelley JM, Kaufman KM, Kilpatrick J, Bruner GR, Merrill JT, James JA, Frank SG, Reams E, Brown EE, Gibson AW, Marion MC, Langefeld CD, Li QZ, Karp DR, Wakeland EK, Petri M, Ramsey-Goldman R, Reveille JD, Vilá LM, Alarcón GS, Kimberly RP, Harley JB, Edberg JC. Interferon regulatory factor-5 is genetically associated with systemic lupus erythematosus in African Americans. Genes Immun 2008; 9(3): 187-194.
16. Dideberg V, Kristjansdottir G, Milani L, Libioulle C, Sigurdsson S, Louis E, Wiman AC, Vermeire S, Rutgeerts P, Belaiche J, Franchimont D, van Gossum A, Bours V, Syvänen AC. An insertion-deletion polymorphism in the interferon regulatory factor 5 (IRF5) gene confers risk of inflammatory bowel diseases. Hum Mol Genet 2007; 16(24): 3008-3016.
17. Rueda B, Reddy MV, González-Gay MA, Balsa A, Pascual-Salcedo D, Petersson IF, Eimon A, Paira S, Scherbarth HR, Pons-Estel BA, González-Escribano MF, Alarcón-Riquelme ME, Martín J. Analysis of IRF5 gene functional polymorphisms in rheumatoid arthritis. Arthritis Rheum 2006; 54(12): 3815-3819.
18. Kristjansdottir G, Sandling JK, Bonetti A, Roos IM, Milani L, Wang C, Gustafsdottir SM, Sigurdsson S, Lundmark A, Tienari PJ, Koivisto K, Elovaara I, Pirttilä T, Reunanen M, Peltonen L, Saarela J, Hillert J, Olsson T, Landegren U, Alcina A, Fernández O, Leyva L, Guerrero M, Lucas M, Izquierdo G, Matesanz F, Syvänen AC. Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations. J Med Genet 2008; 45(6): 362-369.
19. Zhang Q, Hou S, Jiang Z, Du L, Li F, Xiao X, Kijlstra A, Yang P. No association of PTPN22 polymorphisms with susceptibility to ocular Behçet's disease in two Chinese Han populations. PLoS ONE 2012; 7(3): e31230.
20. Baranathan V, Stanford MR, Vaughan RW, Kondeatis E, Graham E, Fortune F, Madanat W, Kanawati C, Ghabra M, Murray PI, Wallace GR. The association of the PTPN22 620W polymorphism with Behçet's disease. Ann Rheum Dis 2007; 66(11): 1531-1533.
21. Du L, Yang P, Hou S, Zhou H, Kijlstra A. No association of CTLA-4 polymorphisms with susceptibility to Behçet disease. Br J Ophthalmol 2009; 93(10): 1378-1381.
22. Zhang YJ, Xu WD, Duan ZH, Liu SS, Pan HF, Ye DQ. Lack of association between CTLA-4 + 49A/G and - 318C/T polymorphisms and Behçet's disease risk: a meta-analysis. Clin Exp Rheumatol 2012 Sep 25. [Epub ahead of print].
23. Bye L, Modi N, Stanford MR, Kondeatis E, Vaughan R, Fortune F, Kanawati C, Ben-Chetrit E, Ghabra M, Murray PI, Wallace GR. CTLA-4 polymorphisms are not associated with ocular inflammatory disease. Tissue Antigens 2008; 72(1): 49-53.
24. Ben Dhifallah I, Chelbi H, Braham A, Hamzaoui K, Houman MH. CTLA-4 + 49A/G polymorphism is associated with Behçet's disease in a Tunisian population. Tissue Antigens 2009; 73(3): 213-217.
25. Xu Y, Song G. The role of CD40-CD154 interaction in cell immunoregulation. J Biomed Sci 2004; 11(4): 426-438.
26. Chen F, Hou S, Jiang Z, Chen Y, Kijlstra A, Rosenbaum JT, Yang P. CD40 gene polymorphisms confer risk of Behçet's disease but not of Vogt-Koyanagi-Harada syndrome in a Han Chinese population. Rheumatology (Oxford) 2012; 51(1): 47-51.
27. Raychaudhuri S, Remmers EF, Lee AT, Hackett R, Guiducci C, Burtt NP, Gianniny L, Korman BD, Padyukov L, Kurreeman FA, Chang M, Catanese JJ, Ding B, Wong S, van der Helm-van Mil AH, Neale BM, Coblyn J, Cui J, Tak PP, Wolbink GJ, Crusius JB, van der Horst-Bruinsma IE, Criswell LA, Amos CI, Seldin MF, Kastner DL, Ardlie KG, Alfredsson L, Costenbader KH, Altshuler D, Huizinga TW, Shadick NA, Weinblatt ME, de Vries N, Worthington J, Seielstad M, Toes RE, Karlson EW, Begovich AB, Klareskog L, Gregersen PK, Daly MJ, Plenge RM. Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nat Genet 2008; 40(10): 1216-1223.
28. Keir ME, Butte MJ, Freeman GJ, Sharpe AH. PD-1 and its ligands in tolerance and immunity. Annu Rev Immunol 2008; 26(1): 677-704.
29. Meng Q, Guo H, Hou S, Jiang Z, Kijlstra A, Yang P. Lack of an association of PD-1 and its ligand genes with Behçet's disease in a Chinese Han population. PLoS ONE 2011; 6(10): e25345.
30. Kong EK, Prokunina-Olsson L, Wong WH, Lau CS, Chan TM, Alarcón-Riquelme M, Lau YL. A new haplotype of PDCD1 is associated with rheumatoid arthritis in Hong Kong Chinese. Arthritis Rheum 2005; 52(4): 1058-1062.
31. Kroner A, Mehling M, Hemmer B, Rieckmann P, Toyka KV, Mäurer M, Wiendl H. A PD-1 polymorphism is associated with disease progression in multiple sclerosis. Ann Neurol 2005; 58(1): 50-57.
32. Prokunina L, Castillejo-López C, Oberg F, Gunnarsson I, Berg L, Magnusson V, Brookes AJ, Tentler D, Kristjansdóttir H, Gröndal G, Bolstad AI, Svenungsson E, Lundberg I, Sturfelt G, Jönssen A, Truedsson L, Lima G, Alcocer-Varela J, Jonsson R, Gyllensten UB, Harley JB, Alarcón-Segovia D, Steinsson K, Alarcón-Riquelme ME. A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat Genet 2002; 32(4): 666-669.
33. Di Marzio P, Dai WW, Franchin G, Chan A Y, Symons M, Sherry B. Role of Rho family GTPases in CCR1- and CCR5-induced actin reorganization in macrophages. Biochem Biophys Res Commun 2005; 331(4): 909-916.
34. Saeki T, Naya A. CCR1 chemokine receptor antagonist. Curr Pharm Des 2003; 9(15): 1201-1208.
35. Penido C, Castro-Faria-Neto HC, Vieira-de-Abreu A, Figueiredo RT, Pelled A, Martins MA, Jose PJ, Williams TJ, Bozza PT. LPS induces eosinophil migration via CCR3 signaling through a mechanism independent of RANTES and Eotaxin. Am J Respir Cell Mol Biol 2001; 25(6): 707-716.
36. Hou S, Xiao X, Li F, Jiang Z, Kijlstra A, Yang P. Two-stage association study in Chinese Han identifies two independent associations in CCR1/CCR3 locus as candidate for Behçet's disease susceptibility. Hum Genet 2012 Jul 25. [Epub ahead of print].
37. Kirino Y, Bertsias G, Ombrello MJ, Ustek D, Satorius C, Le J, Mizuki N, Ishigatsubo Y, Seyahi E, Sacli FS, Gul A, Kastner DL, Remmers E. Genome-Wide Analysis of Imputed Genotypes Identifies Chemokine Receptor-1 CCR1) As a Novel Candidate Risk Locus in Behçet's Disease. Arthritis Rheum 2011; 63(10): S946.
38. Hu K, Yang P, Jiang Z, Hou S, Du L, Li F. STAT4 polymorphism in a Chinese Han population with Vogt-Koyanagi-Harada syndrome and Behçet's disease. Hum Immunol 2010; 71(7): 723-726.
39. Hou S, Yang Z, Du L, Jiang Z, Shu Q, Chen Y, Li F, Zhou Q, Ohno S, Chen R, Kijlstra A, Rosenbaum JT, Yang P. Genome-wide association study identifies susceptible locus in STAT4 for Behçet's disease in Han Chinese. Arthritis Rheum 2012 Sep 22. [Epub ahead of print].
40. Chu M, Yang P, Hou S, Li F, Chen Y, Kijlstra A. Behçet's disease exhibits an increased osteopontin serum level in active stage but no association with osteopontin and its receptor gene polymorphisms. Hum Immunol 2011; 72(6): 525-529.
41. Jiang Z, Yang P, Hou S, Du L, Xie L, Zhou H, Kijlstra A. IL-23R gene confers susceptibility to Behçet's disease in a Chinese Han population. Ann Rheum Dis 2010; 69(7): 1325-1328.
42. Hu K, Hou S, Jiang Z, Kijlstra A, Yang P. JAK2 and STAT3 polymorphisms in a Han Chinese population with Behçet's disease. Invest Ophthalmol Vis Sci 2012; 53(1): 538-541.
43. Shu Q, Yang P, Hou S, Li F, Chen Y, Du L, Jiang Z. Interleukin-17 gene polymorphism is associated with Vogt-Koyanagi-Harada syndrome but not with Behçet's disease in a Chinese Han population. Hum Immunol 2010; 71(10): 988-991.
44. Mizuki N, Meguro A, Ota M, Ohno S, Shiota T, Kawagoe T, Ito N, Kera J, Okada E, Yatsu K, Song YW, Lee EB, Kitaichi N, Namba K, Horie Y, Takeno M, Sugita S, Mochizuki M, Bahram S, Ishigatsubo Y, Inoko H. Genome-wide association studies identify IL23RIL12RB2 and IL10 as Behçet's disease susceptibility loci. Nat Genet 2010; 42(8): 703-706.
45. Remmers EF, Cosan F, Kirino Y, Ombrello MJ, Abaci N, Satorius C, Le JM, Yang B, Korman BD, Cakiris A, Aglar O, Emrence Z, Azakli H, Ustek D, Tugal-Tutkun I, Akman-Demir G, Chen W, Amos CI, Dizon MB, Kose AA, Azizlerli G, Erer B, Brand OJ, Kaklamani VG, Kaklamanis P, Ben-Chetrit E, Stanford M, Fortune F, Ghabra M, Ollier WE, Cho YH, Bang D, O'shea J, Wallace GR, Gadina M, Kastner DL, Gül A. Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease. Nat Genet 2010; 42(8): 698-702.
46. Hou S, Yang P, Du L, Jiang Z, Mao L, Shu Q, Zhou H, Kijlstra A. Monocyte chemoattractant protein-1 -2518 A/G single nucleotide polymorphism in Chinese Han patients with ocular Behçet's disease. Hum Immunol 2010; 71(1): 79-82.
47. Yi X, Yang P, Du L, Jiang Z, Li F. There is no association of CCR6 polymorphisms with susceptibility to Behçet's disease in two Chinese Han populations. Br J Ophthalmol 2011; 95(11): 1603-1606.
48. Chen Y, Yang P, Li F, Hou S, Jiang Z, Shu Q, Kijlstra A. Association analysis of TGFBR3 gene with Vogt-Koyanagi-Harada disease and Behçet's disease in the Chinese Han population. Curr Eye Res 2012; 37(4): 312-317.
49. Fei Y, Webb R, Cobb BL, Direskeneli H, Saruhan-Direskeneli G, Sawalha AH. Identification of novel genetic susceptibility loci for Behçet's disease using a genome-wide association study. Arthritis Res Ther 2009; 11(3): R66.
50. Hou S, Shu Q, Jiang Z, Chen Y, Li F, Chen F, Kijlstra A, Yang P. Replication study confirms the association between UBAC2 and Behçet's disease in two independent Chinese sets of patients and controls. Arthritis Res Ther 2012; 14(2): R70.
51. Sawalha AH, Hughes T, Nadig A, Yi{dotless}lmaz V, Aksu K, Keser G, Cefle A, Yazi{dotless}ci{dotless} A, Ergen A, Alarcón-Riquelme ME, Salvarani C, Casali B, Direskeneli H, Saruhan-Direskeneli G. A putative functional variant within the UBAC2 gene is associated with increased risk of Behçet's disease. Arthritis Rheum 2011; 63(11): 3607-3612.
52. Fakhfakh Karray E, Bendhifallah I, Zakraoui L, Hamzaoui K. Association of small ubiquitin-like modifier 4 gene polymorphisms with rheumatoid arthritis in a Tunisian population. Clin Exp Rheumatol 2011; 29(4): 751.
53. Park G, Kim HS, Choe JY, Kim SK. SUMO4 C438T polymorphism is associated with papulopustular skin lesion in Korean patients with Behçet's disease. Rheumatol Int 2012; 32(10): 3031-3037.
54. Li K, Zhao M, Hou S, Du L, Kijlstra A, Yang P. Association between polymorphisms of FCRL3, a non-HLA gene, and Behçet's disease in a Chinese population with ophthalmic manifestations. Mol Vis 2008; 14: 2136-2142.