Sarcoidosis susceptibility and resistance HLA-DQB1 alleles in African Americans

American Journal of Respiratory and Critical Care Medicine

Volumn 167, Issue 9, 2003, Pages 1225-1231

  Iannuzzi, Michael C ^a   Maliarik, Mary J ^b   Poisson, Laila M ^b   Rybicki, Benjamin A ^b  

^a MOUNT SINAI MEDICAL CENTER   (United States)

^b NONE

Author keywords

African Americans; Disease susceptibility; Genetic predisposition; HLA antigens; Sarcoidosis

Indexed keywords

HLA DQB1 ANTIGEN;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; DISEASE COURSE; DISEASE PREDISPOSITION; DISEASE RESISTANCE; ENVIRONMENTAL EXPOSURE; GENE INTERACTION; GENETIC PREDISPOSITION; HLA SYSTEM; HUMAN; MAJOR CLINICAL STUDY; NEGRO; PRIORITY JOURNAL; RISK FACTOR; SARCOIDOSIS;

AFRICAN CONTINENTAL ANCESTRY GROUP; ALLELES; CASE-CONTROL STUDIES; DISEASE PROGRESSION; ENVIRONMENTAL EXPOSURE; GENE FREQUENCY; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HLA-DQ ANTIGENS; HUMANS; IMMUNITY, NATURAL; LINKAGE DISEQUILIBRIUM; MEMBRANE GLYCOPROTEINS; MICHIGAN; MODELS, GENETIC; PEDIGREE; PHENOTYPE; SARCOIDOSIS, PULMONARY; SEVERITY OF ILLNESS INDEX; VARIATION (GENETICS);

EID: 0038555467     PISSN: 1073449X     EISSN: None     Source Type: Journal    
DOI: 10.1164/rccm.200209-1097OC     Document Type: Article

References (60)

1. Harrington DW, Major M, Rybicki B, Popovich J, Maliarik M, Iannuzzi MC. Familial sarcoidosis: analysis of 91 families. Int Rev Sarcoidosis Other Granulomatous Dis 1994;11:240-243.
2. Rybicki BA, Iannuzzi MC, Frederick MM, Thompson BW, Rossman MD, Bresnitz EA, Terrin ML, Moller DR, Barnard J, Baughman RP, et al. Familial aggregation of sarcoidosis: a case-control etiologic study of sarcoidosis (ACCESS). Am J Respir Crit Care Med 2001;164:2085-2091.
3. Unanue ER, Allen PM. The basis for the immunoregulatory role of macrophages and other accessory cells. Science 1987;236:551-557.
4. Richeldi L, Sorrentino R, Saltini C. HLA-DPB1 glutamate 69: a genetic marker of beryllium disease. Science 1993;262:242-244.
5. Rossman MD, Stubbs J, Lee CW, Argyris E, Magira E, Monos D. Human leukocyte antigen Class II amino acid epitopes: susceptibility and progression markers for beryllium hypersensitivity. Am J Respir Crit Care Med 2002;165:788-794.
6. 69 HLA-DPB1 and -DPA1 alleles. J Immunol 1999;7163:1647-1653.
7. Maliarik MJ, Chen KM, Major ML, Sheffer RG, Popovich J Jr, Rybicki BA, Iannuzzi MC. Analysis of HLA-DPB1 polymorphisms in African-Americans with sarcoidosis. Am J Respir Crit Care Med 1998;158:111-114.
8. Foley PJ, McGrath DS, Puscinska E, Petrek M, Kolek V, Drabek J, Lympany PA, Pantelidis P, Welsh KI, Zielinski J, et al. Human leukocyte antigen-DRB1 position 11 residues are a common protective marker for sarcoidosis. Am J Respir Cell Mol Biol 2001;25:272-277.
9. Saltini C, Sorrentino R, Richeldi L, Luisetti M. Bisetti A. Role of the HLA-DP gene in susceptibility to lung granulomas. Sarcoidosis 1993; 10:171-172.
10. Lympany PA, Petrek M, Southcott AM, Newman Taylor AJ, Welsh KI, du Bois RM. HLA-DPB polymorphisms: Glu 69 association with sarcoidosis. Eur J Immunogenet 1996;23:353-359.
11. Schurmann M, Lympany PA, Reichel P, Muller-Myhsok B, Wurm K, Schlaak M, Muller-Quernheim J, du Bois RM, Schwinger E. Familial sarcoidosis is linked to the major histocompatibility complex region. Am J Respir Crit Care Med 2000;162:861-864.
12. Abe S, Yamaguchi E, Makimura S, Okazaki N, Kunikane H, Kawakami Y. Association of HLA-DR with sarcoidosis: correlation with clinical course. Chest 1987:92:488-490.
13. Nowack D, Goebel KM. Genetic aspects of sarcoidosis: Class II histocompatibility antigens and a family study. Arch Intern Med 1987;147:481-483.
14. Odum N, Milman N. Jakobsen BK, Georgsen J, Svejgaard A. HLA Class II (DR, DQ, DP) in patients with sarcoidosis: evidence of an increased frequency of DRw6. Exp Clin Immunogenet 1991;8:227-232.
15. Lenhart K, Kolek V, Bartova A. HLA antigens associated with sarcoidosis. Dis Markers 1990;8:23-29.
16. Martinetti M, Tinelli C, Kolek V, Cuccia M, Salvaneschi L, Pasturenzi L, Semenzato G, Cipriani A, Bartova A, Luisetti M. 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.
17. Gardner J, Kennedy HG, Hamblin A, Jones E. HLA associations in sarcoidosis: a study of two ethnic groups. Thorax 1984;39:19-22.
18. Pasturenzi L, Martinetti M, Cuccia M, Cipriani A, Semenzato G, Luisetti M. HLA Class I, II, and III polymorphism in Italian patients with sarcoidosis. Pavia-Padova Sarcoidosis Study Group. Chest 1993;104:1170-1175.
19. Ina Y, Takada K, Yamamoto M, Morishita M, Senda Y, Torii Y. HLA and sarcoidosis in the Japanese. Chest 1989;95:1257-1261.
20. Krause A, Goebel KM. Class II MHC antigen (HLA-DR3) predisposes to sarcoid arthritis. J Clin Lab Immunol 1987;24:25-27.
21. Kremer JM. Histologic findings in siblings with acute sarcoid arthritis: association with the B8,DR3 phenotype. J Rheumatol 1986;13:593-597.
22. Hedfors E, Lindstrom F. HLA-BS/DR3 in sarcoidosis: correlation to acute onset disease with arthritis. Tissue Antigens 1983;22:200-203.
23. Swider C, Schnittger L, Bogunia-Kubik K, Gerdes J, Flad H, Lange A, Seitzer U. TNF-α and HLA-DR genotyping as potential prognostic markers in pulmonary sarcoidosis. Eur Cytokine Netw 1999;710:143-146.
24. Berlin M, Fogdell-Hahn A, Olerup O, Eklund A, Grunewald J. HLA-DR predicts the prognosis in Scandinavian patients with pulmonary sarcoidosis. Am J Respir Crit Care Med 1997;156:1601-1605.
25. Doherty DG, Vaughan RW, Donaldson PT, Mowat AP. HLA DQA, DQB, and DRB genotyping by oligonucleotide analysis: distribution of alleles and haplotypes in British caucasoids. Hum Immunol 1992; 34:53-63.
26. Campbell DA, du Bois RM, Butcher RG, Poulter LW. The density of HLA-DR antigen expression on alveolar macrophages is increased in pulmonary sarcoidosis. Clin Exp Immunol 1986;65:165-171.
27. Haslam PL, Parker DJ, Townsend PJ. Increases in HLA-DQ, DP, DR, and transferrin receptors on alveolar macrophages in sarcoidosis and allergic alveolitis compared with fibrosing alveolitis. Chest 1990;97:651-661.
28. Spurzem JR, Saltini C, Kirby M, Konishi K, Crystal RG. Expression of HLA Class II genes in alveolar macrophages of patients with sarcoidosis. Am Rev Respir Dis 1989;140:89-94.
29. Schurmann M, Reichel P, Muller-Myhsok B, Schlaak M, Muller-Quernheim J, Schwinger E. Results from a genome-wide search for predisposing genes in sarcoidosis. Am J Respir Crit Care Med 2001; 164:840-846.
30. Foley PJ, Lympany PA, Puscinska E, Zielinski J, Welsh KI, du Bois RM. Analysis of MHC encoded antigen-processing genes TAP1 and TAP2 polymorphisms in sarcoidosis. Am J Respir Crit Care Med 1999;160:1009-1014.
31. Rybicki B, Poisson LM, Maliarik M, Sheffer RG, Chen KM, Major M, Chase CA, Iannuzzi MC. The major histocompatibility complex gene region and sarcoidosis susceptibility in African Americans. Am J Respir Crit Care Med 2003;167:444-449.
32. Morton NE, Collins A. Tests and estimates of allelic association in complex inheritance. Proc Natl Acad Sci USA 1998;95:11389-11393.
33. Witte JS, Gauderman WJ, Thomas DC. Asymptotic bias and efficiency in case-control studies of candidate genes and gene-environment interactions: basic family designs. Am J Epidemiol 1999;149:693-705.
34. ACCESS Research Group. Design of a case control etiologic study of sarcoidosis (ACCESS). J Clin Epidemiol 1999;52:1173-1186.
35. James DG, Neville E, Siltzbach LE. A worldwide review of sarcoidosis. Ann N Y Acad Sci 1976;278:321-334.
36. Judson MA, Baughman RP, Teirstein AS, Terrin ML, Yeager H Jr. Defining organ involvement in sarcoidosis: the ACCESS proposed instrument. ACCESS Research Group: a case control etiologic study of sarcoidosis. Sarcoidosis Vasc Diffuse Lung Dis 1999;16:75-86.
37. Zoghbi HY, Sandkuyl LA, Ott J, Daiger SP, Pollack M, O'Brien WE, Beaudet AL. Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis. Am J Hum Genet 1989;44:255-263.
38. Laird NM, Horvath S, Xu X. Implementing a unified approach to family-based tests of association. Genet Epidemiol 2000;19:S36-S42.
39. Horvath S, Laird NM. A discordant-sibship test for disequilibrium and linkage: no need for parental data. Am J Hum Genet 1998;63:1886-1897.
40. SAS/STAT users guide, version 8. Cary, NC: SAS Institute; 1989.
41. Agresti A. Categorical data analysis. New York: John Wiley & Sons; 1990.
42. Wolf PR, Ploegh HL. How MHC Class II molecules acquire peptide cargo: biosynthesis and trafficking through the endocytic pathway. Annu Rev Cell Dev Biol 1995;11:267-306.
43. Kwok WW, Domeier ML, Raymond FC, Byers P, Nepom GT. Allele-specific motifs characterize HLA-DQ interactions with a diabetes-associated peptide derived from glutamic acid decarboxylase. J Immunol 1996;156:2171-2177.
44. Schurmann M, Bein G, Kirsten D, Schlaak M, Muller-Quernheim J, Schwinger E. HLA-DQB1 and HLA-DPB1 genotypes in familial sarcoidosis. Respir Med 1998;92:649-652.
45. Ishihara M, Ohno S, Ishida T, Ando H, Naruse T, Nose Y, Inoko H. Molecular genetic studies of HLA Class II alleles in sarcoidosis. Tissue Antigens 1994;43:238-241.
46. Sato H, Grutters JC, Pantelidis P, Mizzon AN, Ahmad T, Van Houte A, Lammers J, van den Bosch J, Welsh KI, du Bois RM. 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.
47. Visser H, Vos K, Zanelli E, Verduyn W, Schreuder GM, Speyer I, Breedveld FC, Hazes JM. Sarcoid arthritis: clinical characteristics, diagnostic aspects, and risk factors. Ann Rheum Dis 2002;61:499-504.
48. Terasaki PI, Gjertson DW, editors. HLA 1997. Los Angeles, CA: UCLA Tissue Typing Laboratory; 1997.
49. Schreuder GM, Hurley CK, Marsh SG, Lau M, Maiers M, Kollman C, Noreen HJ. The HLA dictionary 2001: a summary of HLA-A, -B, -C, -DRB1/3/4/5, -DQB1 alleles and their association with serologically defined HLA-A, -B, -C, -DR, and -DQ antigens. Hum Immunol 2001;62:826-849.
50. Pritchard JK, Rosenberg NA. Use of unlinked genetic markers to detect population stratification in association studies. Am J Hum Genet 1999;65:220-228.
51. Falk CT, rubinstein P. Haplotype relative risks: an easy reliable way to construct a proper control sample for risk calculations. Ann Hum Genet 1987;51:227-233.
52. Teirstein AS, Siltzbach LE, Berger H. Patterns of sarcoidosis in three population groups in New York City. Ann N Y Acad Sci 1976;278:371-376.
53. Keller A. Hospital,age, racial, occupational, geographical, clinical, and survivorship characteristics in the epidemiology of sarcoidosis. Am J Epidemiol 1971;94:222-230.
54. Rybicki BA, Iyengar SK, Harris T, Liptak R, Elston RC, Sheffer R, Chen KM, Major M, Maliarik MJ, Iannuzzi MC. The distribution of long range admixture linkage disequilibrium in an African-American population. Hum Hered 2002;53:187-196.
55. Parra EJ, Marcini A, Akey J, Martinson J, Batzer MA, Cooper R, Forrester T, Allison DB, Deka R, Ferrell RE, et al. Estimating African American admixture proportions by use of population-specific alleles. Am J Hum Genet 1998;63:1839-1851.
56. Begovich AB, McClure GR, Suraj VC, Helmuth RC, Fildes N, Bugawan TL, Erlich HA, Klitz W. Polymorphism, recombination, and linkage disequilibrium within the HLA Class II region. J Immunol 1992;148:249-258.
57. Zachary AA, Bias WB, Johnson A, Rose SM, Leffell MS. Antigen, allele, and haplotype frequencies report of the ASHI minority antigens workshops. 1. African-Americans. Hum Immunol 2001;62:1127-1136.
58. Mignot E, Kimura A, Lattermann A, Lin X, Yasunaga S, Mueller-Eckhardt G, Rattazzi C, Lin L, Guilleminault C, Grumet FC, et al. Extensive HLA Class II studies in 58 non-DRB1*15 (DR2) narcoleptic patients with cataplexy. Tissue Antigens 1997;49:329-341.
59. Raju R, Munn SR, David CS. T cell recognition of human pre-proinsulin peptides depends on the polymorphism at HLA DQ locus: a study using HLA DQ8 and DQ6 transgenic mice. Hum Immunol 1997;58:21-29.
60. + T cells from human DQ transgenic mice. J Clin Invest 1998;102:947-957.