Granuloma genes in sarcoidosis: What is new?

Current Opinion in Pulmonary Medicine

Volumn 21, Issue 5, 2015, Pages 510-516

  Fischer, Annegret ^a   Rybicki, Benjamin A ^b  

^a UNIVERSITY OF KIEL   (Germany)

^b HENRY FORD HOSPITAL   (United States)

Author keywords

Antigens; Apoptosis; Clinical phenotype; HLA; Prediction

Indexed keywords

ANXA11 PROTEIN; BTNL2 PROTEIN; HLA ANTIGEN CLASS 2; HLA DRB1 ANTIGEN; PROTEIN; UNCLASSIFIED DRUG; XAF1 PROTEIN; TUMOR NECROSIS FACTOR ALPHA;

ALLELE; APOPTOSIS; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; ETHNIC GROUP; GENE LOCUS; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GRANULOMA; HEREDITY; HUMAN; IMMUNOCOMPETENT CELL; PATHOGENESIS; PHENOTYPE; REVIEW; SARCOIDOSIS; T LYMPHOCYTE ACTIVATION; GENETICS; IMMUNOLOGY; LYMPHOCYTE ACTIVATION; PATHOLOGY; T LYMPHOCYTE;

ALLELES; GRANULOMA; HLA-DRB1 CHAINS; HUMANS; LYMPHOCYTE ACTIVATION; SARCOIDOSIS; T-LYMPHOCYTES; TUMOR NECROSIS FACTOR-ALPHA;

EID: 84942907531     PISSN: 10705287     EISSN: 15316971     Source Type: Journal    
DOI: 10.1097/MCP.0000000000000189     Document Type: Review

References (56)

1. Robinson J, Halliwell JA, McWilliam H, et al. The IMGT/HLA database. Nucleic Acids Res 2013; 41:D1222-D1227.
2. Sanchez-Mazas A, Meyer D. The relevance of HLA sequencing in population genetics studies. J Immunol Res 2014; 2014:971818.
3. de Bakker PI, McVean G, Sabeti PC, et al. A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet 2006; 38:1166-1172.
4. Major E, Rigo K, Hague T, et al. HLA typing from 1000 genomes whole genome and whole exome illumina data. PLoS One 2013; 8: e78410.
5. Lange V, Bohme I, Hofmann J, et al. Cost-efficient high-throughput HLA typing by MiSeq amplicon sequencing. BMC Genom 2014; 15:63.
6. Fischer A, Grunewald J, Spagnolo P, et al. Genetics of sarcoidosis. Semin Resp Crit Care Med 2014; 35:296-306.
7. Zhou Y, Shen L, Zhang Y, et al. Human leukocyte antigen-A,-B, and-DRB1 alleles and sarcoidosis in Chinese Han subjects. Hum Immunol 2011; 72:571-575.
8. Sato H, Woodhead FA, Ahmad T, et al. Sarcoidosis HLA class II genotyping distinguishes differences of clinical phenotype across ethnic groups. Hum Mol Genet 2010; 19:4100-4111.
9. Grunewald J, Brynedal B, Darlington P, et al. Different HLA-DRB1 allele distributions in distinct clinical subgroups of sarcoidosis patients. Respir Res 2010; 11:25.
10. Ozyilmaz E, Goruroglu Ozturk O, Yunsel D, et al. Could HLA-DR B1 ∗11 allele be a clue for predicting extra-pulmonary sarcoidosis? Sarcoidosis Vasc Diffuse Lung Dis 2014; 31:154-162.
11. Rossman MD, Thompson B, Frederick M, et al. HLA-DRB1 ∗1101: a significant risk factor for sarcoidosis in blacks and whites. Am J Hum Genet 2003; 73:720-735.
12. Levin AM, Adrianto I, Datta I, et al. Association of HLA-DRB1 with sarcoidosis susceptibility and progression in African Americans. Am J Respir Cell Mol Biol 2014. [Epub ahead of print]
13. Wennerstrom A, Pietinalho A, Vauhkonen H, et al. HLA-DRB1 allele frequencies and C4 copy number variation in Finnish sarcoidosis patients and associations with disease prognosis. Hum Immunol 2012; 73:93-100.
14. Grunewald J, Eklund A. Lofgren's syndrome: human leukocyte antigen strongly influences the disease course. Am J Respir Crit Care Med 2009; 179:307-312.
15. Petursdottir D, Haraldsdottir SO, Bjarnadottir K, et al. Sarcoid arthropathy and the association with the human leukocyte antigen. The Icelandic Sarcoidosis Study. Clin Exp Rheumatol 2013; 31:711-716.
16. Darlington P, Gabrielsen A, Sorensson P, et al. HLA-alleles associated with increased riskfor extra-pulmonary involvement in sarcoidosis. Tissue Antigens 2014; 83:267-272.
17. Suzuki H, Ota M, Meguro A, et al. Genetic characterization and susceptibility for sarcoidosis in Japanese patients: risk factors of BTNL2 gene polymorphisms and HLA class II alleles. Invest Ophthalmol Vis Sci 2012; 53:7109-7115.
18. Mrazek F, Holla LI, Hutyrova B, et al. Association of tumour necrosis factor-alpha, lymphotoxin-alphaand HLA-DRB1 gene polymorphisms with Lofgren's syndrome in Czech patients with sarcoidosis. Tissue Antigens 2005; 65: 163-171.
19. 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.
20. 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.
21. Sharma SK, Balamurugan A, Pandey RM, et al. Human leukocyte antigen-DR alleles influence the clinical course of pulmonary sarcoidosis in Asian Indians. Am J Respir Cell Mol Biol 2003; 29:225-231.
22. 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.
23. Grunewald J. HLA associations and Lofgren's syndrome. Expert Rev Clin Immunol 2012; 8:55-62.
24. Stern LJ, Brown JH, Jardetzky TS, et al. Crystal structure of the human class II MHC protein HLA-DR1 complexed with an influenza virus peptide. Nature 1994; 368:215-221.
25. Murthy VL, Stern LJ. The class II MHC protein HLA-DR1 in complex with an endogenous peptide: implications for the structural basis of the specificity of peptide binding. Structure 1997; 5:1385-1396.
26. Oswald-Richter K, Sato H, Hajizadeh R, et al. Mycobacterial ESAT-6 and katG are recognized by sarcoidosis CD4 + T cells when presented by the American sarcoidosis susceptibility allele, DRB1 ∗1101. J Clin Immunol 2010; 30:157-166.
27. Wang P, Sidney J, Kim Y, et al. Peptide binding predictions for HLA DR, DP and DQ molecules. BMC Bioinformatics 2010; 11:568.
28. Saltini C, Pallante M, Puxeddu E, et al. M. avium binding to HLA-DR expressed alleles in silico: a model of phenotypic susceptibility to sarcoidosis. Sarcoidosis Vasc Diffuse Lung Dis 2008; 25:100-116.
29. Amicosante M, Puxeddu E, Saltini C. Reactivity to mycobacterial antigens by patients with Lofgren's syndrome as a model of phenotypic susceptibility to disease and disease progression. Am J Respir Crit Care Med 2009; 180:685.
30. Drake WP, Dhason MS, Nadaf M, et al. Cellular recognition of Mycobacterium tuberculosis ESAT-6 and KatG peptides in systemic sarcoidosis. Infect Immun 2007; 75:527-530.
31. Wahlstrom J, Dengjel J, Persson B, et al. Identification of HLA-DR-bound peptides presented by human bronchoalveolar lavage cells in sarcoidosis. J Clin Invest 2007; 117:3576-3582.
32. Wahlstrom J, Dengjel J, Winqvist O, et al. Autoimmune T cell responses to antigenic peptides presented by bronchoalveolar lavage cell HLA-DR molecules in sarcoidosis. Clin Immunol 2009; 133:353-363.
33. 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.
34. Swanson RM, Gavin MA, Escobar SS, et al. Butyrophilin-like 2 modulates B7 costimulation to induce Foxp3 expression and regulatory T cell development in mature T cells. J Immunol 2013; 190:2027-2035.
35. Li Y, Wollnik B, Pabst S, et al. BTNL2 gene variant and sarcoidosis. Thorax 2006; 61:273-274.
36. Cozier Y, Ruiz-Narvaez E, McKinnon C, et al. Replication of genetic loci for sarcoidosis in US black women: data from the Black Women's Health Study. Hum Genet 2013; 132:803-810.
37. Adrianto I, Lin CP, Hale JJ, et al. Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility. PLoS One 2012; 7:e43907.
38. Morais A, Lima B, Peixoto MJ, et al. BTNL2 gene polymorphism associations with susceptibility and phenotype expression in sarcoidosis. Respir Med 2012; 106:1771-1777.
39. Milman N, Svendsen CB, Nielsen FC, van Overeem Hansen T. The BTNL2 A allele variant is frequent in Danish patients with sarcoidosis. Clin Respir J 2011; 5:1 05-111.
40. Wijnen PA, Voorter CE, Nelemans PJ, et al. Butyrophilin-like 2 in pulmonary sarcoidosis: a factor for susceptibility and progression? Hum Immunol 2011; 72:342-347.
41. Wennerstrom A, Pietinalho A, Lasota J, et al. Major histocompatibility complex class II and BTNL2 associations in sarcoidosis. Eur Respir J 2013; 42: 550-553.
42. Delaveri A, Rapti A, Poulou M, et al. BTNL2 gene SNPs as a contributing factor to sarcoidosis pathogenesis in a cohort of Greek patients. Meta Gene 2014; 2:619-630.
43. Moss S, Morgan R. The annexins. Genome Biol 2004; 5:219.
44. Hofmann S, Franke A, Fischer A, et al. Genome-wide association study identifies ANXA11 as a new susceptibility gene for sarcoidosis. Nat Genet 2008; 40:1103-1106.
45. Li Y, Pabst S, Kubisch C, et al. First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis. Thorax 2010; 65:939-940.
46. Mrazek F, Stahelova A, Kriegova E, et al. Functional variant ANXA11 R230C: true marker of protection and candidate disease modifier in sarcoidosis. Genes Immun 2011; 12:490-494.
47. Levin AM, Iannuzzi MC, Montgomery CG, et al. Association of ANXA11 genetic variation with sarcoidosis in African Americans and European Americans. Genes Immun 2012; 14:13-18.
48. Morais A, Lima B, Peixoto M, et al. Annexin A11 gene polymorphism (R230C variant) and sarcoidosis in a Portuguese population. Tissue Antigens 2013; 82:186-191.
49. Feng X, Zang S, Yang Y, et al. Annexin A11 (ANXA11) gene polymorphisms are associated with sarcoidosis in a Han Chinese population: a case-control study. BMJ Open 2014; 4:e004466.
50. Rybicki BA, Levin AM, McKeigue P, et al. A genome-wide admixture scan for ancestry-linked genes predisposing to sarcoidosis in African-Americans. Genes Immun 2011; 12:67-77.
51. Levin AM, Iannuzzi MC, Montgomery CG, et al. Admixture fine-mapping in African Americans implicates XAF1 as a possible sarcoidosis risk gene. PLoS One 2014; 9:e92646.
52. Broos CE, van Nimwegen M, Hoogsteden HC, et al. Granuloma formation in pulmonary sarcoidosis. Front Immunol 2013; 4:437.
53. Xie H, Wu M, Niu Y, et al. Associations between tumor necrosis factor alpha gene polymorphism and sarcoidosis: a meta-analysis. Mol Biol Rep 2014; 41:4475-4480.
54. Gialafos E, Triposkiadis F, Kouranos V, et al. Relationship between tumor necrosis factor - A (TNFA) gene polymorphisms and cardiac sarcoidosis. In Vivo 2014; 28:1125-1129.
55. Takashige N, Naruse TK, Matsumori A, et al. Genetic polymorphisms at the tumour necrosis factor loci (TNFA and TNFB) in cardiac sarcoidosis. Tissue Antigens 1999; 54:191-193.
56. Wijnen PA, Cremers JP, Nelemans PJ, et al. Association of the TNF-alpha G-308A polymorphism with TNF-inhibitor response in sarcoidosis. Eur Respir J 2014; 43:1730-1739.