Genetics of sarcoidosis

Current Opinion in Pulmonary Medicine

Volumn 14, Issue 5, 2008, Pages 434-439

  Grunewald, Johan ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

BTNL2; Candidate gene association studies; Genetics; Human leucocyte antigen; Phenotyping; Sarcoidosis

Indexed keywords

CHEMOKINE; CYTOKINE; HEAT SHOCK PROTEIN; HLA DQB1 ANTIGEN; HLA DR ANTIGEN; LEUKOCYTE ANTIGEN; PATTERN RECOGNITION RECEPTOR; BTNL2 PROTEIN, HUMAN; HLA DQ ANTIGEN; HLA DQB1 02 ANTIGEN; HLA-DRB1 ANTIGEN; MEMBRANE PROTEIN;

ALLELE; BILATERAL HILAR LYMPHADENOPATHY; BUTYROPHILIN LIKE 2 GENE; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; GENE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC VARIABILITY; HLA SYSTEM; HUMAN; LYMPHADENOPATHY; PATIENT CODING; PHENOTYPE; PROGNOSIS; REVIEW; SARCOIDOSIS; ERYTHEMA NODOSUM; GENETICS;

ERYTHEMA NODOSUM; GENETIC PREDISPOSITION TO DISEASE; HLA-DQ ANTIGENS; HLA-DR ANTIGENS; HUMANS; MEMBRANE GLYCOPROTEINS; SARCOIDOSIS, PULMONARY;

EID: 53149083780     PISSN: 10705287     EISSN: 15316971     Source Type: Journal    
DOI: 10.1097/MCP.0b013e3283043de7     Document Type: Review

References (68)

1. Iannuzzi M, Rybicki B, Teirstein A. Medical progress: sarcoidosis. N Engl J Med 2007; 357:2153-2165.
2. Iannuzzi MC, Rybicki BA. Genetics of sarcoidosis: candidate genes and genome scans. Proc Am Thorac Soc 2007; 4:108-116.
3. Rybicki BA, Iannuzzi MC, Frederick MM, et al. Familial aggregation of sarcoidosis. A case-control etiologic study of sarcoidosis (ACCESS). Am J Respir Crit Care Med 2001; 164:2085-2091.
4. Familial associations in sarcoidosis. A report to the Research Committee of the British Thoracic and Tuberculosis Association. Tubercle 1973; 54:87-98.
5. Valentonyte R, Hampe J,Croucher PJ, et al. Study of C-Cchemokine receptor 2 alleles in sarcoidosis, with emphasis on family-based analysis. Am J Respir Crit Care Med 2005; 171:1136-1141.
6. Judson MA, Hirst K, Iyengar SK, et al. Comparison of sarcoidosis phenotypes among affected African-American siblings. Chest 2006; 130:855-862.
7. Schurmann M, Lympany PA, Reichel P, et al. Familial sarcoidosis is linked to the major histocompatibility complex region. Am J Respir Crit Care Med 2000; 162:861-864.
8. Schurmann M, Reichel P, Muller-MyhsokB, et al. Results from a genome-wide search for predisposing genes in sarcoidosis. Am J Respir Crit Care Med 2001; 164:840-846.
9. Iannuzzi MC, Iyengar SK, Gray-McGuire C, et al. Genome-wide search for sarcoidosis susceptibility genes in African Americans. Genes Immun 2005; 6:509-518.
10. Gray-McGuire C, Sinha R, Iyengar S, et al. Genetic characterization and fine mapping of susceptibility loci for sarcoidosis in African Americans on chromosome 5. Hum Genet 2006; 120:420-430.
11. Grutters JC, Sato H, Welsh KI, du Bois RM. The importance of sarcoidosis genotype to lung phenotype. Am J Respir Cell Mol Biol 2003; 29:S59-S62.
12. Hedfors E, Lindstrom F. HLA-B8/DR3 in sarcoidosis. Correlation to acute onset disease with arthritis. Tissue Antigens 1983; 22:200-203.
13. Gardner J, Kennedy HG, Hamblin A, Jones E. HLA associations in sarcoidosis: a study of two ethnic groups. Thorax 1984; 39:19-22.
14. Martinetti M, Tinelli C, Kolek V, et al. 'The sarcoidosis map': a joint survey of clinical and immunogenetic findings in two European countries. Am J Respir Crit Care Med 1995; 152:557-564.
15. Berlin M, Fogdell-Hahn A, Olerup O, et al. HLA-DR predicts the prognosis in Scandinavian patients with pulmonary sarcoidosis. Am J Respir Crit Care Med 1997; 156:1601-1605.
16. Bogunia-Kubik K, Tomeczko J, Suchnicki K, Lange A. HLA-DRB1 *03, DRB1 *11 or DRB1 *12 and their respective DRB3 specificities in clinical variants of sarcoidosis. Tissue Antigens 2001; 57:87-90.
17. Grunewald J, Eklund A, Olerup O. Human leukocyte antigen class I alleles and the disease course in sarcoidosis patients. Am J Respir Crit Care Med 2004; 169:696-702.
18. Grubic Z, Zunec R, Peros-Golubicic T, et al. HLA class I and class II frequencies in patients with sarcoidosis from Croatia: role of HLA-B8,-DRB1*0301, and-DQB1 *0201 haplotype in clinical variations of the disease. Tissue Antigens 2007; 70:301-306.
19. Mrazek F, Holla LI, Hutyrova B, et al. Association of tumour necrosis factoralpha, lymphotoxin-alphaand HLA-DRB1 gene polymorphisms with Lofgren's syndrome in Czech patients with sarcoidosis. Tissue Antigens 2005; 65:163-171.
20. Sato H, Grutters JC, Pantelidis P, et al. HLA-DQB1 *0201: a marker for good prognosis in British and Dutch patients with sarcoidosis. Am J Respir Cell Mol Biol 2002; 27:406-412.
21. Voorter CE, Amicosante M, Berretta F, et al. HLA class II amino acid epitopes as susceptibility markers of sarcoidosis. Tissue Antigens 2007; 70:18-27.
22. Grunewald J, Wahlstrom J, Berlin M, et al. Lung restricted T cell receptor AV2S3+ CD4+ T cell expansions in sarcoidosis patients with a shared HLA-DRbeta chain conformation. Thorax 2002; 57:348-352.
23. Voorter CE, Drent M, van den Berg-Loonen EM. Severe pulmonary sarcoidosis is strongly associated with the haplotype HLA-DQB1 *0602- DRB1*150101. Hum Immunol 2005; 66:826-835.
24. Voorter CE, Drent M, Hoitsma E, et al. Association of HLA DQB1 0602 in sarcoidosis patients with small fiber neuropathy. Sarcoidosis Vasc Diffuse Lung Dis 2005; 22:129-132.
25. Sato H, Nagai S, du Bois RM, et al. HLA-DQB1 0602 allele is associated with splenomegaly in Japanese sarcoidosis. J Intern Med 2007; 262:449-457.
26. Naruse TK, Matsuzawa Y, Ota M, et al. HLA-DQB1 *0601 is primarily associated with the susceptibility to cardiac sarcoidosis. Tissue Antigens 2000; 56:52-57.
27. Rybicki BA, Maliarik MJ, Poisson LM, et al. The major histocompatibility complex gene region and sarcoidosis susceptibility in African Americans. Am J Respir Crit Care Med 2003; 167:444-449.
28. Spagnolo P, du Bois RM. Genetics of sarcoidosis. Clin Dermatol 2007; 25:242-249.
29. Mana J, Marcoval J. Erythema nodosum. Clin Dermatol 2007; 25:288-294.
30. Grunewald J, Eklund A. Sex-specific manifestations of Lofgren's syndrome. Am J Respir Crit Care Med 2007; 175:40-44.
31. Valentonyte R, Hampe J, Huse K, et al. Sarcoidosis is associated with a truncating splice site mutation in BTNL2. Nat Genet 2005; 37:357-364.
32. Rybicki BA, Walewski JL, MaliarikMJ, et al. The BTNL2 gene and sarcoidosis susceptibility in African Americans and Whites. Am J Hum Genet 2005; 77:491-499.
33. Li Y, Wollnik B, Pabst S, et al. BTNL2 gene variant and sarcoidosis. Thorax 2006; 61:273-274.
34. Spagnolo P, Sato H, Grutters JC, et al. Analysis of BTNL2 genetic polymorphisms in British and Dutch patients with sarcoidosis. Tissue Antigens 2007; 70:219-227.
35. Mochida A, Kinouchi Y, Negoro K, et al. Butyrophilin-like 2 gene is associated with ulcerative colitis in the Japanese under strong linkage disequilibrium with HLA-DRB1 *1502. Tissue Antigens 2007; 70:128-135.
36. Grutters JC, Sato H, Pantelidis P, et al. Analysis of IL6 and IL1A gene polymorphisms in UK and Dutch patients with sarcoidosis. Sarcoidosis Vasc Diffuse Lung Dis 2003; 20:20-27.
37. Maver A, Medica I, Salobir B, et al. Polymorphisms in genes coding for mediators in the interleukin cascade and their effect on susceptibility to sarcoidosis in the Slovenian population. Int J Mol Med 2007; 20:385-390.
38. Oida T, Xu L, Weiner HL, et al. TGF-beta-mediated suppression by CD4+CD25+ T cells is facilitated by CTLA-4 signaling. J Immunol 2006; 177:2331-2339.
39. Jonth AC, Silveira L, Fingerlin TE, et al. TGF-beta 1 variants in chronic beryllium disease and sarcoidosis. J Immunol 2007; 179:4255-4262.
40. Kruit A, Grutters JC, Ruven HJ, et al. Transforming growth factor-beta gene polymorphisms in sarcoidosis patients with and without fibrosis. Chest 2006; 129:1584-1591.
41. Bruhl H, Cihak J, Schneider MA, et al. Dual role of CCR2 during initiation and progression of collagen-induced arthritis: evidence for regulatory activity of CCR2+ T cells. J Immunol 2004; 172:890-898.
42. Peters W, Scott HM, Chambers HF, et al. Chemokine receptor 2 serves an early and essential role in resistance to Mycobacterium tuberculosis. Proc Natl Acad Sci USA 2001; 98:7958-7963.
43. Hizawa N, Yamaguchi E, Furuya K, et al. The role of the C-C chemokine receptor 2 gene polymorphism V64I (CCR2-64I) in sarcoidosis in a Japanese population. Am J Respir Crit Care Med 1999; 159:2021-2023.
44. Petrek M, Drabek J, Kolek V, et al. CC chemokine receptor gene polymorphisms in Czech patients with pulmonary sarcoidosis. Am J Respir Crit Care Med 2000; 162:1000-1003.
45. Spagnolo P, Renzoni EA, Wells AU, et al. C-C chemokine receptor 2 and sarcoidosis: association with Lofgren's syndrome. Am J Respir Crit Care Med 2003; 168:1162-1166.
46. Spagnolo P, Sato H, Grunewald J, et al. A common haplotype of C-C chemokine receptor 2 gene and HLA-DRB1 *0301 are independent genetic risk factors for Löfgren's syndrome. J Intern Med (in press).
47. Akira S, Takeda K, Kaisho T. Toll-like receptors: critical proteins linking innate and acquired immunity. Nat Immunol 2001; 2:675-680.
48. Pabst S, Baumgarten G, Stremmel A, et al. Toll-like receptor (TLR) 4 polymorphisms are associated with a chronic course of sarcoidosis. Clin Exp Immunol 2006; 143:420-426.
49. Veltkamp M, Grutters JC, van Moorsel CH, et al. Toll-like receptor (TLR) 4 polymorphism Asp299Gly is not associated with disease course in Dutch sarcoidosis patients. Clin Exp Immunol 2006; 145:215-218.
50. Veltkamp M, Wijnen PA, van Moorsel CH, et al. Linkage between Toll-like receptor (TLR) 2 promotor and intron polymorphisms: functional effects and relevance to sarcoidosis. Clin Exp Immunol 2007; 149:453-462.
51. Strober W, Murray PJ, Kitani A, Watanabe T. Signalling pathways and molecular interactions of NOD1 and NOD2. Nat Rev Immunol 2006; 6:9-20.
52. Hugot JP, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001; 411:599-603.
53. Miceli-Richard C, Lesage S, Rybojad M, et al. CARD15 mutations in Blau syndrome. Nat Genet 2001; 29:19-20.
54. Schurmann M, Valentonyte R, Hampe J, et al. CARD15 gene mutations in sarcoidosis. Eur Respir J 2003; 22:748-754.
55. Ho LP, Merlin F, Gaber K, et al. CARD 15 gene mutations in sarcoidosis. Thorax 2005; 60:354-355.
56. Milman N, Nielsen OH, Hviid TV, Fenger K. CARD15 single nucleotide polymorphisms 8, 12 and 13 are not increased in ethnic Danes with sarcoidosis. Respiration 2007; 74:76-79.
57. Tanabe T, Ishige I, Suzuki Y, et al. Sarcoidosis and NOD1 variation with impaired recognition of intracellular Propionibacterium acnes. Biochim Biophys Acta 2006; 1762:794-801.
58. Bogunia-Kubik K, Koscinska K, Suchnicki K, Lange A. HSP70-hom gene single nucleotide (+2763G/Aand +2437C/T) polymorphisms in sarcoidosis. Int J Immunogenet 2006; 33:135-140.
59. Spagnolo P, Sato H, Marshall SE, et al. Association between heat shock protein 70/Hom genetic polymorphisms and uveitis in patients with sarcoidosis. Invest Ophthalmol Vis Sci 2007; 48:3019-3025.
60. Hattori N, Niimi T, Sato S, et al. Cytotoxic T-lymphocyte antigen 4 gene polymorphisms in sarcoidosis patients. Sarcoidosis Vasc Diffuse Lung Dis 2005; 22:27-32.
61. Iannuzzi MC, Maliarik M, Rybicki BA. Nomination of a candidate susceptibility gene in sarcoidosis: the complement receptor 1 gene. Am J Respir Cell Mol Biol 2002; 27:3-7.
62. Zorzetto M, Bombieri C, Ferrarotti I, et al. Complement receptor 1 gene polymorphisms in sarcoidosis. Am J Respir Cell Mol Biol 2002; 27:17-23.
63. MrazekF, Kvezereli M, Garr E, et al. Complement receptor 1 single nucleotide polymorphisms in Czech and Dutch patients with sarcoidosis. Tissue Antigens 2008; 71:77-80.
64. Campo I, Morbini P, Zorzetto M, et al. Expression of receptor for advanced glycation end products in sarcoid granulomas. Am J Respir Crit Care Med 2007; 175:498-506.
65. Morbini P, Villa C, Campo I, et al. The receptor for advanced glycation end products and its ligands: a new inflammatory pathway in lung disease? Mod Pathol 2006; 19:1437-1445.
66. Hill MR, Papafili A, Booth H, et al. Functional prostaglandin-endoperoxide synthase 2 polymorphism predicts poor outcome in sarcoidosis. Am J Respir Crit Care Med 2006; 174:915-922.
67. Culver DA, Newman LS, Kavuru MS. Gene-environment interactions in sarcoidosis: challenge and opportunity. Clin Dermatol 2007; 25:267-275.
68. Iannuzzi MC, Maliarik MJ, Poisson LM, Rybicki BA. Sarcoidosis susceptibility and resistance HLA-DQB1 alleles in African Americans. Am J Respir Crit Care Med 2003; 167:1225-1231.