Genetics of uveitis

Ophthalmology Clinics of North America

Volumn 16, Issue 4, 2003, Pages 555-565

  Martin, Tammy M ^a,b   Kurz, Daryl E ^a   Rosenbaum, James T ^a,b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; CYROPYRIN; GENE PRODUCT; HLA A2 ANTIGEN; HLA B ANTIGEN; HLA B27 ANTIGEN; HLA DQA1 ANTIGEN; HLA DQB1 ANTIGEN; HLA DR ANTIGEN; HLA DR4 ANTIGEN; PROTEIN; TUMOR NECROSIS FACTOR; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT DISORDER; BEHCET DISEASE; BLAU SYNDROME; CHORIORETINOPATHY; CHROMOSOME 6; CINCA SYNDROME; DISEASE ASSOCIATION; GENE FUNCTION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GRANULOMATOSIS; HEREDITY; HLA SYSTEM; HLA TYPING; HUMAN; INFLAMMATION; INTERSTITIAL NEPHRITIS; NEWBORN DISEASE; ONSET AGE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FUNCTION; REVIEW; SPONDYLOARTHROPATHY; UVEITIS; VITILIGINOUS CHORIORETINITIS; VOGT KOYANAGI SYNDROME;

EID: 0348225264     PISSN: 08961549     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0896-1549(03)00071-3     Document Type: Review

References (132)

1. Davey MP, Rosenbaum JT. The human leukocyte antigen complex and chronic ocular inflammatory disorders. Am J Ophthalmol 2000;129(2):235-43.
2. Rosenbaum JT, Nozik RA. Uveitis: many diseases, one diagnosis. Am J Med 1985;79(5):545-7.
3. Jabs DA, Houk JL, Bias WB, et al. Familial granulomatous synovitis, uveitis, and cranial neuropathies. Am J Med 1985;78(5):801-4.
4. Blau E. Familial granulomatous arthritis, iritis, and rash. J Pediatr 1985;107(5):689-93.
5. Miller III JJ. Early-onset "sarcoidosis" and "familial granulomatous arthritis (arteritis)": the same disease. J Pediatr 1986;109(2):387-8.
6. Latkany P, Jabs D, Smith J, et al. Multifocal choroiditis in patients with familial juvenile systemic granulomatosis. Am J Ophthalmol 2002;134(6):897-904.
7. Tromp G, Kuivaniemi H, Raphael S, et al. Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16. Am J Hum Genet 1996;59(5):1097-107.
8. Miceli-Richard C, Lesage S, Rybojad M, et al. CARD15 mutations in Blau syndrome. Nat Genet 2001;29:19-20.
9. Wang X, Kuivaniemi H, Bonavita G, et al. CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy. Arthritis Rheum 2002;46(11):3041-5.
10. Ogura Y, Bonen D, Inohara N, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001;411:603-6.
11. Hugot J-P, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001;411: 599-603.
12. Ogura Y, Inohara N, Benito A, et al. Nod2, a Nod1/ Apaf-1 family member that is restricted to monocytes and activates NF-βB. J Biol Chem 2001;276: 4812-8.
13. Inohara N, Ogura Y, Fontalba A, et al. Host recognition of bacterial muramyl dipeptide mediated through NOD2. Implications for Crohn's disease. J Biol Chem 2003;278(8):5509-12.
14. Girardin SE, Boneca IG, Viala J, et al. Nod2 is a general sensor of peptidoglycan through muramyl dipeptide (MDP) detection. J Biol Chem 2003;278(11): 8869-72.
15. Chamaillard M, Philpott D, Girardin SE, et al. Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. Proc Natl Acad Sci U S A 2003;100(6):3455-60.
16. Gutierrez O, Pipaon C, Inohara N, et al. Induction of Nod2 in myelomonocytic and intestinal epithelial cells via nuclear factor-kappa B activation. J Biol Chem 2002;277(44):41701-5.
17. Martin T, Zamora D, Dinulescu D, et al. Regulated expression of the CARD15 gene in uveal microvascular endothelial cells [abstract 4250]. 2002 Annual Meeting of the Association for Research in Vision and Ophthalmology Abstract and Program Planner. Available at: www.arvo.org. Accessed May 20, 2003.
18. Prieur AM. A recently recognised chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy. Clin Exp Rheumatol 2001;19(1):103-6.
19. Feldmann J, Prieur AM, Quartier P, et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet 2002;71(1):198-203.
20. Martinon F, Burns K, Tschopp J. The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta. Mol Cell 2002;10(2):417-26.
21. The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997;17(1): 25-31.
22. The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997;90(4):797-807.
23. Hoffman HM, Mueller JL, Broide DH, et al. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001;29(3): 301-5.
24. Dode C, Le Du N, Cuisset L, et al. New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet 2002;70(6): 1498-506.
25. Aganna E, Martinon F, Hawkins PN, et al. Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. Arthritis Rheum 2002;46(9):2445-52.
26. Linssen A, Rothova A, Valkenburg HA, et al. The lifetime cumulative incidence of acute anterior uveitis in a normal population and its relation to ankylosing spondylitis and histocompatibility antigen HLA-B27. Invest Ophthalmol Vis Sci 1991;32(9): 2568-78.
27. Rosenbaum JT Acute anterior uveitis and spondyloarthropathies. Rheum Dis Clin N Am 1992;18(1): 143-51.
28. Brewerton DA, Caffrey M, Nicholls A, et al. Acute anterior uveitis and HL-A 27. Lancet 1973;2:994-6.
29. Wakefield D, Montanaro A, McCluskey P. Acute anterior uveitis and HLA-B27. Surv Ophthalmol 1991; 36(3):223-32.
30. Khan MA. HLA-B27 and its subtypes in world populations. Curr Opin Rheum 1995;7:263-9.
31. Caffrey MFP, James DCO. Human lymphocyte antigen association in ankylosing spondylitis. Nature 1973; 242:121.
32. Schlosstein LP, Terasaki PI, Bluestone R, et al. High association of an HLA antigen, W27, with ankylosing spondylitis. N Engl J Med 1973;288:704-6.
33. Brewerton DA, Hart FD, Nicholls A, et al. Ankylosing spondylitis and HL-A 27. Lancet 1973;1(7809): 904-7.
34. Ball EJ, Khan MA. HLA-B27 polymorphism. Joint Bone Spine 2001;68(5):378-82.
35. Khan MA. HLA-B27 polymorphism and association with disease. J Rheumatol 2000;27(5):1110-4.
36. Hochberg MC, Bias WB, Arnett Jr FC. Family studies in HLA-B27 associated arthritis. Medicine (Baltimore) 1978;57(5):463-75.
37. Lochead JA, Chalmers IM, Marshall WH, et al. HLA-B27 haplotypes in family studies of ankylosing spondylitis. Arthritis Rheum 1983;26(8):1011-6.
38. Reveille JD, Suarez Almazor ME, Russell AS, et al. HLA in ankylosing spondylitis: is HLA-B27 the only MHC gene involved in disease pathogenesis? Semin Arthritis Rheum 1994;23(5):295-309.
39. Rubin LA, Amos CI, Wade JA, et al. Investigating the genetic basis for ankylosing spondylitis. Linkage studies with the major histocompatibility complex region. Arthritis Rheum 1994;37(8):1212-20.
40. Derhaag PJ, Linssen A, Broekema N, et al. A familial study of the inheritance of HLA-B27-positive acute anterior uveitis. Am J Ophthalmol 1988;105(6):603-6.
41. Martin TM, Rosenbaum JT. Identifying genes that cause disease: HLA-B27, the paradigm, the promise, the perplexity. Br J Ophthalmol 1998;82(12):1354-5.
42. Miettinen R, Saari M. Clinical characteristics of familial acute anterior uveitis. Can J Ophthalmol 1977; 12(1):1-3.
43. van der Linden SM, Valkenburg HA, de Jongh BM, et al. The risk of developing ankylosing spondylitis in HLA-B27 positive individuals. A comparison of relatives of spondylitis patients with the general population. Arthritis Rheum 1984;27(3):241-9.
44. Rosenbaum JT. Characterization of uveitis associated with spondyloarthritis. J Rheumatol 1989;16(6): 792-6.
45. Said-Nahal R, Miceli-Richard C, Berthelot J-M, et al. The familial form of spondylarthropathy: a clinical study of 115 multiplex families. Arth Rheum 2000; 43(6):1356-65.
46. Brown MA, Pile KD, Kennedy LG, et al. A genome-wide screen for susceptibility loci in ankylosing spondylitis. Arthritis Rheum 1998;41(4):588-95.
47. Brown MA, Kennedy LG, MacGregor AJ, et al. Susceptibility to ankylosing spondylitis in twins: the role of genes, HLA, and the environment. Arthritis Rheum 1997;40(10):1823-8.
48. Laval SH, Timms A, Edwards S, et al. Whole-genome screening in ankylosing spondylitis: evidence of non-MHC genetic-susceptibility loci. Am J Hum Genet 2001;68(4):918-26.
49. Said-Nahal R, Miceli-Richard C, Gautreau C, et al. The role of HLA genes in familial spondyloarthropathy: a comprehensive study of 70 multiplex families. Ann Rheum Dis 2002;61(3):201-6.
50. van der Paardt M, Crusius JB, Garcia-Gonzalez MA, et al. Interleukin-1beta and interleukin-1 receptor antagonist gene polymorphisms in ankylosing spondylitis. Rheumatology (Oxford) 2002;41(12): 1419-23.
51. McGarry F, Walker R, Sturrock R, et al. The -308.1 polymorphism in the promoter region of the tumor necrosis factor gene is associated with ankylosing spondylitis independent of HLA-B27. J Rheumatol 1999; 26(5):1110-6.
52. Menezo V, Bond S, Wilson GA, et al. Influence of cytokine gene polymorphisms on clinical outcome in recurrent anterior uveitis [abstract 4600]. Annual meeting of the Association for Research in Vision and Ophthalmology Abstract and Program Planner, 2003. Available at: www.arvo.org. Accessed May 20, 2003.
53. Sakane T, Takeno M, Suzuki N, et al. Behcet's disease. N Engl J Med 1999;341(17):1284-91.
54. Verity DH, Marr JE, Ohno S, et al. Behcet's disease, the Silk Road and HLA-B51: historical and geographical perspectives. Tissue Antigens 1999;54(3):213-20.
55. Fresko I, Soy M, Hamuryudan V, et al. Genetic anticipation in Behcet's syndrome. Ann Rheum Dis 1998; 57(1):45-8.
56. Ohno S, Ohguchi M, Hirose S, et al. Close association of HLA-Bw51 with Behcet's disease. Arch Ophthalmol 1982;100(9):1455-8.
57. Mizuki N, Ota M, Kimura M, et al. Triplet repeat polymorphism in the transmembrane region of the MICA gene: a strong association of six GCT repetitions with Behcet disease. Proc Natl Acad Sci U S A 1997;94(4):1298-303.
58. Sfikakis PP. Behcet's disease: a new target for anti-tumour necrosis factor treatment. Ann Rheum Dis 2002; 61(Suppl 2):ii51-3.
59. Sfikakis PP, Theodossiadis PG, Katsiari CG, et al. Effect of infliximab on sight-threatening panuveitis in Behcet's disease. Lancet 2001; 358(9278):295-6.
60. Munoz-Fernandez S, Hidalgo V, Fernandez-Melon J, et al. Effect of infliximab on threatening panuveitis in Behcet's disease [comment]. Lancet 2001; 358(9293):1644.
61. Verity DH, Wallace GR, Vaughan RW, et al. HLA and tumour necrosis factor (TNF) polymorphisms in ocular Behcet's disease. Tissue Antigens 1999;54(3): 264-72.
62. Wilson AG, Symons JA, McDowell TL, et al. Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation. Proc Natl Acad Sci U S A 1997;94(7):3195-9.
63. Ahmad T, Wallace GR, James T, et al. Mapping the HLA association in Behcet's disease: a role for tumor necrosis factor polymorphisms? Arthritis Rheum 2003; 48(3):807-13.
64. Wallace GR, Verity DH, Delamaine LJ, et al. MIC-A allele profiles and HLA class I associations in Behcet's disease. Immunogenetics 1999;49(7-8):613-7.
65. Mizuki N, Ota M, Yabuki K, et al. Localization of the pathogenic gene of Behcet's disease by microsatellite analysis of three different populations. Invest Ophthalmol Vis Sci 2000;41(12):3702-8.
66. Cohen R, Metzger S, Nahir M, et al. Association of the MIC-A gene and HLA-B51 with Behcet's disease in Arabs and non-Ashkenazi Jews in Israel. Ann Rheum Dis 2002;61(2):157-60.
67. Park SH, Park KS, Seo YI, et al. Association of MICA polymorphism with HLA-B51 and disease severity in Korean patients with Behcet's disease. J Korean Med Sci 2002;17(3):366-70.
68. Bertina RM, Koeleman BP, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C [comment]. Nature 1994; 369(6475):64-7.
69. Verity DH, Vaughan RW, Madanat W, et al. Factor V Leiden mutation is associated with ocular involvement in Behcet disease. Am J Ophthalmol 1999;128(3): 352-6.
70. Verity DH, Vaughan RW, Kondeatis E, et al. Intercellular adhesion molecule-1 gene polymorphisms in Behcet's disease. Eur J Immunogenet 2000;27(2): 73-6.
71. Boiardi L, Salvarani C, Casali B, et al. Intercellular adhesion molecule-1 gene polymorphisms in Behcet's Disease. J Rheumatol 2001;28(6):1283-7.
72. Aydintug AO, Tokgoz G, Ozoran K, et al. Elevated levels of soluble intercellular adhesion molecule-1 correlate with disease activity in Behcet's disease. Rheumatol Int 1995;15(2):75-8.
73. Zorzetto M, Bombieri C, Ferrarotti I, et al. Complement receptor 1 gene polymorphisms in sarcoidosis. Am J Respir Cell Mol Biol 2002;27(1):17-23.
74. Ben-Chetrit E, Cohen R, Chajek-Shaul T. Familial Mediterranean fever and Behcet's disease-are they associated? J Rheumatol 2002;29(3):530-4.
75. Touitou I, Magne X, Molinari N, et al. MEFV mutations in Behcet's disease. Hum Mutat 2000;16(3):271-2.
76. Livneh A, Aksentijevich I, Langevitz P, et al. A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behcet's disease (FMF-BD). Eur J Hum Genet 2001;9(3):191-6.
77. Salvarani C, Boiardi L, Casali B, et al. Endothelial nitric oxide synthase gene polymorphisms in Behcet's disease. J Rheumatol 2002;29(3):535-40.
78. Dobrin RS, Vernier RL, Fish AL. Acute eosinophilic interstitial nephritis and renal failure with bone marrow-lymph node granulomas and anterior uveitis. A new syndrome. Am J Med 1975;59(3):325-33.
79. Mandeville JT, Levinson RD, Holland GN. The tubulointerstitial nephritis and uveitis syndrome. Surv Ophthalmol 2001;46(3):195-208.
80. Gafter U, Kalechman Y, Zevin D, et al. Tubulointerstitial nephritis and uveitis: association with suppressed cellular immunity. Nephrol Dial Transplant 1993;8(9): 821-6.
81. Iitsuka T, Yamaguchi N, Kobayashi M, et al. [HLA tissue types in patients with acute tubulointerstitial nephritis accompanying uveitis]. Nippon Jinzo Gakkai Shi 1993;35(6):723-31.
82. Gorrono-Echebarria MB, Calvo-Arrabal MA, Albarran F, et al. The tuberculointerstitial nephritis and uveitis (TINU) syndrome is associated with HLA-DR14 in Spanish patients. Br J Ophthalmol 2001;85(8): 1010-1.
83. Tanaka H, Waga S, Nakahata T, et al. Tubulointerstitial nephritis and uveitis syndrome in two siblings. Tohoku J Exp Med 2001;194(1):71-4.
84. Levinson RD, Park MS, Rikkers SM, et al. Strong associations between specific HLA-DQ and HLA-DR alleles and the tubulointerstitial nephritis and uveitis syndrome. Invest Ophthalmol Vis Sci 2003;44(2): 653-7.
85. Ryan SJ, Maumenee AE. Birdshot retinochoroidopathy. Am J Ophthalmol 1980;89(1):31-45.
86. Nussenblatt RB, Mittal KK, Ryan S, et al. Birdshot retinochoroidopathy associated with HLA-A29 antigen and immune responsiveness to retinal S-antigen. Am J Ophthalmol 1982;94(2):147-58.
87. Levinson RD, Gonzales CR. Birdshot retinochoroidopathy: immunopathogenesis, evaluation, and treatment. Ophthalmol Clin N Am 2002;15(3):343-50.
88. Szpak Y, Vieville JC, Tabary T, et al. Spontaneous retinopathy in HLA-A29 transgenic mice. Proc Natl Acad Sci U S A 2001;98(5):2572-6.
89. Gaudio PA, Kaye DB, Crawford JB. Histopathology of birdshot retinochoroidopathy. Br J Ophthalmol 2002; 86(12):1439-41.
90. Tabary T, Lehoang P, Betuel H, et al. Susceptibility to birdshot chorioretinopathy is restricted to the HLA-A29.2 subtype. Tissue Antigens 1990;36(4): 177-9.
91. LeHoang P, Ozdemir N, Benhamou A, et al. HLA-A29.2 subtype associated with birdshot retinochoroidopathy. Am J Ophthalmol 1992;113(1):33-5.
92. Kappel PJ, Levinson RD, Park MS, et al. Human leukocyte antigen A29 subtypes in birdshot retinochoroidopathy [abstract]. Annual meeting of the Association for Research in Vision and Ophthalmology Abstract and Program Planner, 2003. Available at: www.arvo.org. Accessed May 20, 2003.
93. Boisgerault F, Khalil I, Tieng V, et al. Definition of the HLA-A29 peptide ligand motif allows prediction of potential T-cell epitopes from the retinal soluble antigen, a candidate autoantigen in birdshot retinopathy. Proc Natl Acad Sci U S A 1996;93(8):3466-70.
94. Yamaki K, Gocho K, Hayakawa K, et al. Tyrosinase family proteins are antigens specific to Vogt-Koyanagi-Harada disease. J Immunol 2000;165(12): 7323-9.
95. Yamaki K, Kondo I, Nakamura H, et al. Ocular and extraocular inflammation induced by immunization of tyrosinase related protein 1 and 2 in Lewis rats. Exp Eye Res 2000;71(4):361-9.
96. Gocho K, Kondo I, Yamaki K. Identification of autoreactive T cells in Vogt-Koyanagi-Harada disease. Invest Ophthalmol Vis Sci 2001;42(9):2004-9.
97. Werner RP, Chamberlain DG, Mader TH. Familial Vogt-Koyanagi-Harada syndrome in Alaskan natives [abstract]. Annual meeting of the Association for Research in Vision and Ophthalmology Abstract and Program Planner, 2003. Available at: www.arvo.org. Accessed May 20, 2003.
98. Weisz JM, Holland GN, Roer LN, et al. Association between Vogt-Koyanagi-Harada syndrome and HLA-DR1 and -DR4 in Hispanic patients living in southern California. Ophthalmology 1995;102(7): 1012-5.
99. Shindo Y, Ohno S, Yamamoto T, et al. Complete association of the HLA-DRB1 *04 and -DQB1 *04 alleles with Vogt-Koyanagi-Harada's disease. Hum Immunol 1994;39(3):169-76.
100. Goldberg AC, Yamamoto JH, Chiarella JM, et al. HLA-DRB1 *0405 is the predominant allele in Brazilian patients with Vogt-Koyanagi-Harada disease. Hum Immunol 1998;59(3):183-8.
101. Arellanes-Garcia L, Bautista N, Mora P, et al. HLA-DR is strongly associated with Vogt-Koyanagi-Harada disease in Mexican Mestizo patients. Ocul Immunol Inflamm 1998;6(2):93-100.
102. Alaez C, del Pilar Mora M, Arellanes L, et al. Strong association of HLA class II sequences in Mexicans with Vogt-Koyanagi-Harada's disease. Hum Immunol 1999;60(9):875-82.
103. Liu Q, Zhang M, Qiu C, et al. [Association of HLA-DQA1 and DQB1 alleles with Vogt-Koyanagi-Harada syndrome in Han Chinese population]. Zhonghua Yan Ke Za Zhi 1999;35(3):210-5.
104. Kim MH, Seong MC, Kwak NH, et al. Association of HLA with Vogt-Koyanagi-Harada syndrome in Koreans. Am J Ophthalmol 2000;129(2):173-7.
105. Yamada K, Senju S, Shinohara T, et al. Humoral immune response directed against LEDGF in patients with VKH. Immunol Lett 2001;78(3):161-8.
106. Yang P, Chen L, Zhou H, et al. Resistance of lymphocytes to Fas-mediated apoptosis in Behcet's disease and Vogt-Koyangi-Harada syndrome. Ocul Immunol Inflamm 2002;10(1):47-52.
107. Haines JL, Terwedow HA, Burgess K, et al. Linkage of the MHC to familial multiple sclerosis suggests genetic heterogeneity. The Multiple Sclerosis Genetics Group. Hum Mol Genet 1998;7(8):1229-34.
108. Raja SC, Jabs DA, Dunn JP, et al. Pars planitis: clinical features and class II HLA associations. Ophthalmology 1999;106(3):594-9.
109. Malinowski SM, Pulido JS, Goeken NE, et al. The association of HLA-B8, B51, DR2, and multiple sclerosis in pars planitis. Ophthalmology 1993;100(8): 1199-205.
110. Malinowski SM, Pulido JS, Folk JC. Long-term visual outcome and complications associated with pars planitis. Ophthalmology 1993;100(6):818-24, discussion 825.
111. Masterman T, Ligers A, Zhang Z, et al. CTLA4 dimorphisms and the multiple sclerosis phenotype. J Neuroimmunol 2002;131(1-2):208-12.
112. Maurer M, Ponath A, Kruse N, et al. CTLA4 exon 1 dimorphism is associated with primary progressive multiple sclerosis. J Neuroimmunol 2002;131(1-2): 213-5.
113. Kantarci OH, Hebrink DD, Achenbach SJ, et al. CTLA4 is associated with susceptibility to multiple sclerosis. J Neuroimmunol 2003;134(1-2):133-41.
114. Giordano M, D'Alfonso S, Momigliano-Richiardi P. Genetics of multiple sclerosis: linkage and association studies. Am J Pharmacogenomics 2002;2(1): 37-58.
115. Jabs DA, Johns CJ. Ocular involvement in chronic sarcoidosis. Am J Ophthalmol 1986;102(3):297-301.
116. Obenauf CD, Shaw HE, Sydnor CF, et al. Sarcoidosis and its ophthalmic manifestations. Am J Ophthalmol 1978;86(5):648-55.
117. Karma A, Huhti E, Poukkula A. Course and outcome of ocular sarcoidosis. Am J Ophthalmol 1988;106(4): 467-72.
118. Brewerton DA, Cockburn C, James DC, et al. HLA antigens in sarcoidosis. Clin Exp Immunol 1977;27(2): 227-9.
119. Merritt JC, Whitsett CF, Daffin L, et al. HLA-A, -B, and -DR antigenic factors in ocular sarcoidosis. Am J Ophthalmol 1983;96(3):396-7.
120. Whitsett CF, Merritt JC, Mower P, et al. HLA-A,B and DR antigens in North Carolina blacks with sarcoidosis. Tissue Antigens 1983;21(4):348-50.
121. Schurmann M, Bein G, Kirsten D, et al. HLA-DQB1 and HLA-DPB1 genotypes in familial sarcoidosis. Respir Med 1998;92(4):649-52.
122. 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(3 Pt 1):861-4.
123. Schurmann M, Reichel P, Muller-Myhsok B, et al. Results from a genome-wide search for predisposing genes in sarcoidosis. Am J Respir Crit Care Med 2001;164(5):840-6.
124. Bombieri C, Luisetti M, Belpinati F, et al. Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study. Eur J Hum Genet 2000;8(9):717-20.
125. Foley PJ, Lympany PA, Puscinska E, et al. Analysis of MHC encoded antigen-processing genes TAP1 and TAP2 polymorphisms in sarcoidosis. Am J Respir Crit Care Med 1999;160(3):1009-14.
126. Niimi T, Tomita H, Sato S, et al. Vitamin D receptor gene polymorphism in patients with sarcoidosis. Am J Respir Crit Care Med 1999;160(4):1107-9.
127. Yamaguchi E, Itoh A, Hizawa N, et al. The gene polymorphism of tumor necrosis factor-beta, but not that of tumor necrosis factor-alpha, is associated with the prognosis of sarcoidosis. Chest 2001;119(3): 753-61.
128. Grutters JC, Sato H, Pantelidis P, et al. Increased frequency of the uncommon tumor necrosis factor -857T allele in British and Dutch patients with sarcoidosis. Am J Respir Crit Care Med 2002;165(8): 1119-24.
129. Hutyrova B, Pantelidis P, Drabek J, et al. Interleukin-1 gene cluster polymorphisms in sarcoidosis and idiopathic pulmonary fibrosis. Am J Respir Crit Care Med 2002;165(2):148-51.
130. Hizawa N, Yamaguchi E, Furuya K, et al. The role of the C-C chemokine receptor 2 gene polymorphism V64I (CCR2-641) in sarcoidosis in a Japanese population. Am J Respir Crit Care Med 1999;159(6): 2021-3.
131. Maliarik MJ, Rybicki BA, Malvitz E, et al. Angiotensin-converting enzyme gene polymorphism and risk of sarcoidosis. Am J Respir Crit Care Med 1998; 158(5 Pt 1):1566-70.
132. Schurmann M, Reichel P, Muller-Myhsok B, et al. Angiotensin-converting enzyme (ACE) gene polymorphisms and familial occurrence of sarcoidosis. J Intern Med 2001;249(1):77-83.