Angiotensin-converting enzyme gene polymorphisms in patients with pulmonary sarcoidosis: Impact on disease severity

American Journal of PharmacoGenomics

Volumn 3, Issue 4, 2003, Pages 233-243

  Schürmann, Manfred ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CAPTOPRIL; DIPEPTIDYL CARBOXYPEPTIDASE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; GAMMA INTERFERON; HLA ANTIGEN CLASS 2; HLA DR ANTIGEN; INTERLEUKIN 1; INTERLEUKIN 12; INTERLEUKIN 6; METALLOPROTEINASE; TUMOR NECROSIS FACTOR ALPHA;

ALLELE; ATHEROSCLEROSIS; BERYLLIOSIS; BLAU SYNDROME; BLOOD PRESSURE REGULATION; BLOOD VOLUME; CARDIOVASCULAR RISK; CHROMOSOME 17; CIGARETTE SMOKING; CLINICAL TRIAL; CROHN DISEASE; CYTOKINE RELEASE; DIAGNOSTIC ACCURACY; DISEASE ACTIVITY; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE PREDISPOSITION; DISEASE SEVERITY; DNA POLYMORPHISM; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; ENZYME INHIBITION; ENZYME SYNTHESIS; ETHNOLOGY; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; GRANULOMATOUS INFLAMMATION; HUMAN; HYPERTENSION; IMMUNOPATHOGENESIS; INTRON; LUNG; LUNG ALVEOLUS MACROPHAGE; LYMPH NODE; META ANALYSIS; MONOGENIC DISORDER; NONHUMAN; PRIORITY JOURNAL; PROGNOSIS; PROPIONIBACTERIACEAE; PROTEIN FUNCTION; PROTEIN STRUCTURE; PUBLICATION; REVIEW; SARCOIDOSIS;

ANIMALS; HUMANS; INFLAMMATION; PEPTIDYL-DIPEPTIDASE A; POLYMORPHISM, GENETIC; SARCOIDOSIS, PULMONARY; SEVERITY OF ILLNESS INDEX;

INSERTION SEQUENCES; PROPIONIBACTERIACEAE;

EID: 0043194347     PISSN: 11752203     EISSN: None     Source Type: Journal    
DOI: 10.2165/00129785-200303040-00002     Document Type: Review

References (108)

1. Baudin B. New aspects on angiotensin-converting enzyme: from gene to disease. Clin Chem Lab Med 2002; 40: 256-65
2. Corvol P, Michaud A, Soubrier F, et al. Recent advances in knowledge of the structure and function of the angiotensin I converting enzyme. J Hypertens 1995; 13 Suppl. 3: S3-10
3. Baudin B, Berard M, Carrier JL, et al. Vascular origin determines angiotensin I-converting enzyme expression in endothelial cells. Endothelium 1997; 5: 73-84
4. Oppong SY, Hooper NM. Characterization of a secretase activity which releases angiotensin-converting enzyme from the membrane. Biochem J 1993; 292: 597-603
5. Skidgel RA, Erdos EG. The broad substrate specificity of human angiotensin I converting enzyme. Clin Exp Hypertens A 1987; 9: 243-59
6. Mattei MG, Hubert C, Alhenc-Gelas F, et al. Angiotensin-I converting enzyme gene is on chromosome 17. Cytogenet Cell Genet 1989; 51: 1041
7. Ehlers MR, Fox EA, Strydom DJ, et al. Molecular cloning of human testicular angiotensin-converting enzyme: the testis isozyme is identical to the C-terminal half of endothelial angiotensin-converting enzyme. Proc Natl Acad Sci U S A 1989; 8: 7741-5
8. Howard TE, Shai SY, Langford KG, et al. Transcription of testicular angiotensin-converting enzyme (ACE) is initiated within the 12th intron of the somatic ACE gene. Mol Cell Biol 1990; 10: 4294-302
9. Rigat B, Hubert C, Corvol P, et al. PCR detection of the insertion/deletion polymorphism of the human angiotensin converting enzyme gene (DCPI) (dipeptidyl carboxypeptidase 1). Nucleic Acids Res 1992; 20: 1433
10. Rotimi C, Puras A, Cooper R, et al. Polymorphisms of renin-angiotensin genes among Nigerians, Jamaicans, and African Americans. Hypertension 1996; 27: 558-63
11. Saha N, Talmud PJ, Tay JS, et al. Lack of association of angiotensin-converting enzyme (ACE): gene insertion/deletion polymorphism with CAD in two Asian populations. Clin Genet 1996; 50: 121-5
12. Rieder MJ, Taylor SL, Clark AG, et al. Sequence variation in the human angiotensin converting enzyme. Nat Genet 1999; 22: 59-62
13. Tiret L, Rigat B, Visvikis S, et al. Evidence, from combined segregation and linkage analysis, that a variant of the angiotensin I-converting enzyme (ACE) gene controls plasma ACE levels. Am J Hum Genet 1992; 51: 197-205
14. Zhu X, McKenzie CA, Forrester T, et al. Localization of a small genomic region associated with elevated ACE. Am J Hum Genet 2000; 67: 1144-53
15. Keavney B, McKenzie CA, Connell JM, et al. Measured haplotype analysis of the angiotensin-I converting enzyme gene. Hum Mol Genet 1998; 7: 1745-51
16. Luisetti M, Martinetti M, Cuccia M, et al. Familial elevation of serum angiotensin converting enzyme activity. Eur Respir J 1990; 3: 441-6
17. Okabe T, Fujisawa M, Yotsumoto H, et al. Familial elevation of serum angiotensin converting enzyme. Q J Med 1985; 55: 55-61
18. Kramers C, Danilov SM, Deinum J, et al. Point mutation in the stalk of angiotensin-converting enzyme causes a dramatic increase in serum angiotensin-converting enzyme but no cardiovascular disease. Circulation 2001; 104: 1236-40
19. Fogarty DG, Maxwell AP, Doherty CC, et al. ACE gene typing [letter]. Lancet 1994;343:851
20. Lindpaintner K, Pfeffer MA, Kreutz R, et al. A prospective evaluation of an angiotensin-converting-enzyme gene polymorphism and the risk of ischemic heart disease. N Engl J Med 1995; 332: 706-11
21. Odawara M, Matsunuma A, Yamashita K. Mistyping frequency of the angiotensin-converting enzyme gene polymorphism and an improved method for its avoidance. Hum Genet 1997; 100: 163-6
22. Cambien F, Poirier O, Lecerf L, et al. Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction. Nature 1992; 359: 641-4
23. Agerholm-Larsen B, Nordestgaard BG, Tybjaerg-Hansen A. ACE gene polymorphism in cardiovascular disease: meta-analyses of small and large studies in whites. Arterioscler Thromb Vasc Biol 2000; 20: 484-92
24. Keavney B, McKenzie C, Parish S, et al. Large-scale test of hypothesised associations between the angiotensin-converting-enzyme insertion/deletion polymorphism and myocardial infarction in about 5000 cases and 6000 controls. International Studies of Infarct Survival (ISIS) Collaborators. Lancet 2000; 355: 434-42
25. Kehoe PG, Russ C, Mcllory S, et al. Variation in DCPI, encoding ACE, is associated with susceptibility to Alzheimer disease. Nat Genet 1999; 21: 71-2
26. Buss S, Muller-Thomsen T, Hock C, et al. No association between DCP1 genotype and late-onset Alzheimer disease. Am J Med Genet 2002; 114: 440-5
27. Arinami T, Li L, Mitsushio H, et al. An insertion/deletion polymorphism in the angiotensin converting enzyme gene is associated with both brain substance P contents and affective disorders. Biol Psychiatry 1996; 40: 1122-7
28. Segman RH, Shapira Y, Modai I, et al. Angiotensin converting enzyme gene insertion/deletion polymorphism: case-control association studies in schizophrenia, major affective disorder, and tardive dyskinesia and a family-based association study in schizophrenia. Am J Med Genet 2002; 114: 310-4
29. Williams AG, Rayson MP, Jubb M, et al. The ACE gene and muscle performance [letter]. Nature 2000; 403: 614
30. Nazarov IB, Woods DR, Montgomery HE, et al. The angiotensin converting enzyme I/D polymorphism in Russian athletes. Eur J Hum Genet 2001; 9: 797-801
31. Montgomery HE, Marshall R, Hemingway H, et al. Human gene for physical performance. Nature 1998; 393: 221-2
32. National Center for Biotechnology Information. Online Mendelian inheritance in man [online]. Available from URL: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?.106180 [Accessed 2003 May 6]
33. Marre M, Jeunemaitre X, Gallois Y, et al. Contribution of genetic polymorphism in the renin-angiotensin system to the development of renal complications in insulin-dependent diabetes: Genetique de la Nephropathie Diabetique (GENEDIAB) study group. J Clin Invest 1997; 99: 1585-95
34. Doria A. Genetic markers of increased susceptibility to diabetic nephropathy. Horm Res 1998; 50 Suppl. 1: 6-11
35. Amant C, Bauters C, Bodart JC, et al. D allele of the angiotensin I-converting enzyme is a major risk factor for restenosis after coronary stenting. Circulation 1997; 96: 56-60
36. Ribichini F, Stcffenino G, Dellavalle A, et al. Plasma activity and insertion/deletion polymorphism of angiotensin I-converting enzyme: a major risk factor and a marker of risk for coronary stent restenosis. Circulation 1998; 97: 147-5436
37. Schachter F, Faure-Delanef L, Guenot F, et al. Genetic associations with human longevity at the APOE and ACE loci. Nat Genet 1994; 6: 29-32
38. Hunninghake GW, Costabel U, Ando M, et al. Statement on sarcoidosis: joint statement of the American Thoracic Society (ATS), the European Respiratory Society (ERS) and the World Association of Sarcoidosis and Other Granulomatous Disorders (WASOG) adopted by the ATS Board of Directors and by the ERS Executive Committee, February 1999. Am J Respir Crit Care Med 1999; 160: 736-55
39. Muller-Quernheim J. Sarcoidosis: immunopathogenetic concepts and their clinical application. Eur Respir J 1998; 12: 716-38
40. Newman LS, Rose CS, Maier LA. Sarcoidosis. N Engl J Med 1997; 336: 1224-34
41. Rybicki BA, Major M, Popovich J, et al. Racial differences in sarcoidosis incidence: a 5-year study in a health maintenance organization. Am J Epidemiol 1997; 145: 234-41
42. Hillerdal G, Nou E, Osterman K, et al. Sarcoidosis: epidemiology and prognosis: a 15-year European study. Am Rev Respir Dis 1984; 130: 29-32
43. Edmondstone WM, Wilson AG. Sarcoidosis in Caucasians, Blacks and Asians in London. Br J Dis Chest 1985 Jan; 79: 27-36
44. Baughman RP, Teirstein AS, Judson MA, et al. Clinical characteristics of patients in a case control study of sarcoidosis. Am J Respir Crit Care Med 2001; 164: 1885-9
45. Wiman LG. Familial occurrence of sarcoidosis. Scand J Respir Dis Suppl 1972; 80: 115-9
46. Elford J, Fitch P, Kaminski E, et al. Five cases of sarcoidosis in one family: a new immunological link? Thorax 2000; 55: 343-4
47. Kirsten D. Sarcoidosis in Germany: analysis of a questionnaire survey in 1992 of patients of the German Sarcoidosis Group. Pneumologie 1995; 49: 378-82
48. Wirnsberger RM, de Vries J, Wouters EF, et al. Clinical presentation of sarcoidosis in the Netherlands an epidemiological study. Neth J Med 1998; 53: 53-60
49. McGrath DS, Daniil Z, Foley P, et al. Epidemiology of familial sarcoidosis in the UK. Thorax 2000; 55: 751-4
50. Fite E, Alsina JM, Anto JM, et al. Sarcoidosis: family contact study. Respiration 1998; 65: 34-9
51. Rybicki BA, lannuzzi 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: 2085-91
52. Cummings MM. An evaluation of the possible relationship of pine pollen to sarcoidosis. Acta Med Scand Suppl 1964; 425: 48-50
53. Bresnitz EA, Stolley PD, Israel HL, et al. Possible risk factors for sarcoidosis: a case-control study. Ann N Y Acad Sci 1986; 465: 632-42
54. Kon OM, du Bois RM. Mycobacteria and sarcoidosis. Thorax 1997; 52 Suppl. 3: S47-51
55. Iwai K. Propionibacterium acnes in sarcoidosis. Sarcoidosis 1989; 6: 73-5
56. Eishi Y, Suga M, Ishige I, et al. Quantitative analysis of mycobacterial and propionibacterial DNA in lymph nodes of Japanese and European patients with sarcoidosis. J Clin Microbiol 2002; 40: 198-204
57. McGrath DS, Goh N, Foley PJ, et al. Sarcoidosis: genes and microbes: soil or seed? Sarcoidosis Vasc Diffuse Lung Dis 2001; 18: 149-64
58. Grunewald J, Berlin M, Olerup O, et al. Lung T-helper cells expressing T-cell receptor AV2S3 associate with clinical features of pulmonary sarcoidosis. Am J Respir Crit Care Med 2000; 161: 814-8
59. Klein JT, Horn TD, Forman JD, et al. Selection of oligoclonal V beta-specific T cells in the intradermal response to Kveim-Siltzbach reagent in individuals with sarcoidosis. J Immunol 1995; 154: 1450-60
60. Moller DR. Cells and cytokines involved in the pathogenesis of sarcoidosis. Sarcoidosis Vasc Diffuse Lung Dis 1999; 16: 24-31
61. Martinetti M, Luisetti M, Cuccia M. HLA and sarcoidosis: new pathogenetic insights. Sarcoidosis Vasc Diffuse Lung Dis 2002; 19: 83-95
62. 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: 1601-5
63. Foley PJ, McGrath DS, Puscinska E, et al. Human leukocyte antigen-DRB1 position 11 residues are a common protective marker for sarcoidosis. Am J Respir Cell Mol Biol 2001; 25: 272-7
64. Seitzer U, Swider C, Stuber F, et al. Tumour necrosis factor alpha promoter gene polymorphism in sarcoidosis. Cytokine 1997; 9: 787-90
65. Seitzer U, Gerdes J, Muller-Quernheim J. Evidence for disease phenotype associated haplotypes (DR.TNF) in sarcoidosis. Sarcoidosis Vasc Diffuse Lung Dis 2001; 18: 279-83
66. Schürmann 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: 861-4
67. Schürmann M, Reichel P, Müller-Myhsok B, et al. Results from a genome-wide search for predisposing genes in sarcoidosis. Am J Respir Crit Care Med 2001; 164: 840-6
68. Lieberman J. Elevation of serum angiotensin-converting-enzyme (ACE) level in sarcoidosis. Am J Med 1975; 59: 365-72
69. Pertschuk LP, Silverstein E, Friedland J. Immunohistologic diagnosis of sarcoidosis: detection of angiotensin-converting enzyme in sarcoid granulomas. Am J Clin Pathol 1981; 75: 350-4
70. Okabe T, Yamagata K, Fujisawa M, et al. Increased angiotensin-converting enzyme in peripheral blood monocytes from patients with sarcoidosis. J Clin Invest 1985; 75: 911-4
71. Gilbert S, Steinbrech DS, Landas SK, et al. Amounts of angiotensin-converting enzyme mRNA reflect the burden of granulomas in granulomatous lung disease. Am Rev Respir Dis 1993; 148: 483-6
72. Arbustini E, Grasso M, Leo G, et al. Polymorphism of angiotensin-converting enzyme gene in sarcoidosis. Am J Respir Crit Care Med 1996; 153: 851-4
73. Furuya K, Yamaguchi E, Itoh A, et al. Deletion polymorphism in the angiotensin I converting enzyme (ACE) gene as a genetic risk factor for sarcoidosis. Thorax 1996; 51: 777-80
74. Sharma P, Smith I, Maguire G, et al. Clinical value of ACE genotyping in diagnosis of sarcoidosis. Lancet 1997; 349: 1602-3
75. 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: 1566-70
76. Schürmann M, Reichel P, Müller-Myhsok B, et al. Angiotensin-converting enzyme (ACE) gene polymorphisms and familial occurrence of sarcoidosis. J Intern Med 2001; 249: 77-83
77. Tomita H, Ina Y, Sugiura Y, et al. Polymorphism in the angiotensin-converting enzyme (ACE) gene and sarcoidosis. Am J Respir Crit Care Med 1997; 156: 255-9
78. Takemoto Y, Sakatani M, Takami S, et al. Association between angiotensin II receptor gene polymorphism and serum angiotensin converting enzyme (SACE) activity in patients with sarcoidosis. Thorax 1998; 53: 459-62
79. McGrath DS, Foley PJ, Petrek M, et al. Ace gene I/D polymorphism and sarcoidosis pulmonary disease severity. Am J Respir Crit Care Med 2001; 164: 197-201
80. Garrib A, Zhou W, Sherwood R, et al. Angiotensin-converting enzyme (ACE) gene polymorphism in patients with sarcoidosis. Biochem Soc Trans 1998; 26: S137
81. Csaszar A, Halmos B, Palicz T, et al. Interpopulation effect of ACE I/D polymorphism on serum concentration of ACE in diagnosis of sarcoidosis [letter]. Lancet 1997; 350: 518
82. Niimi T, Tomita H, Sato S, et al. Bronchial responsiveness and angiotensin-converting enzyme gene polymorphism in sarcoidosis patients. Chest 1998; 114: 495-9
83. Pietinalho A, Furuya K, Yamaguchi E, et al. The angiotensin-converting enzyme DD gene is associated with poor prognosis in Finnish sarcoidosis patients. Eur Respir J 1999; 13: 723-6
84. Papadopoulos KI, Melander O, Orho-Melander M, et al. Angiotensin converting enzyme (ACE) gene polymorphism in sarcoidosis in relation to associated autoimmune diseases. J Intern Med 2000; 247: 71-7
85. Planck A, Eklund A, Yamaguchi E, et al. Angiotensin-converting enzyme gene polymorphism in relation to HLA-DR in sarcoidosis. J Intern Med 2002; 251: 217-22
86. Blau EB. Familial granulomatous arthritis, iritis, and rash. J Pediatr 1985; 107: 689-93
87. James DG. A comparison of Blau's syndrome and sarcoidosis. Sarcoidosis 1994; 11: 100-1
88. Miceli-Richard C, Lesage S, Rybojad M, et al. CARD15 mutations in Blau syndrome. Nat Genet 2001; 29: 19-20
89. 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: 3041-5
90. Raphael SA, Blau EB, Zhang WH, et al. Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis. Am J Dis Child 1993; 147: 842-8
91. Newman LS. Immunology, genetics, and epidemiology of beryllium disease. Chest 1996; 109 (3 Suppl.): 40S-3S
92. Saltini C, Amicosante M. Beryllium disease. Am J Med Sci 2001; 321: 89-98
93. Newman LS, Orton R, Kreiss K. Serum angiotensin converting enzyme activity in chronic beryllium disease. Am Rev Respir Dis 1992; 146: 39-42
94. Maier LA, Raynolds MV, Young DA, et al. Angiotensin-1 converting enzyme polymorphisms in chronic beryllium disease. Am J Respir Crit Care Med 1999; 159: 1342-50
95. 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
96. Podolsky DK. Inflammatory bowel disease. N Engl J Med 1991; 325: 928-37
97. Matsuda T, Suzuki J, Furuya K, et al. Serum angiotensin I-converting enzyme is reduced in Crohn's disease and ulcerative colitis irrespective of genotype. Am J Gastroenterol 2001; 96: 2705-10
98. Schrier DJ, Ripani LM, Katzenstein AL, et al. Role of angiotensin-converting enzyme in Bacille Calmette-Guerin-induced granulomatous inflammation: increased angiotensin-converting enzyme levels in lung lavage and suppression of inflammation with captopril. J Clin Invest 1982; 69: 651-7
99. Deepe Jr GS, Taylor CL, Srivastava L, et al. Impairment of granulomatous inflammatory response to Histoplasma capsulatum by inhibitors of angiotensin-converting enzyme. Infect Immun 1985; 48: 395-401
100. Epstein WL, Higuchi M, Izaki S, et al. Effect of captopril on transplanted schistosome egg granulomas in skin. J Invest Dermatol 1985; 85: 212-5
101. Schindler R, Dinarello CA, Koch KM. Angiotensin-converting-enzyme inhibitors suppress synthesis of tumour necrosis factor and interleukin 1 by human peripheral blood mononuclear cells. Cytokine 1995; 7: 526-33
102. Peeters AC, Netea MG, Kullberg BJ, et al. The effect of renin-angiotensin system inhibitors on pro- and anti-inflammatory cytokine production. Immunology 1998; 94: 376-9
103. Constantinescu CS, Goodman DB, Ventura ES. Captopril and lisinopril suppress production of interleukin-12 by human peripheral blood mononuclear cells. Immunol Lett 1998; 62: 25-31
104. Lapteva N, Ide K, Nieda M, et al. Activation and suppression of renin-angiotensin system in human dendritic cells. Biochem Biophys Res Commun 2002; 296: 194-200
105. Viinikainen A, Nyman T, Fyhrquist F, et al. Downregulation of angiotensin converting enzyme by TNF-alpha in differentiating human macrophages. Cytokine 2002; 18: 304-10
106. Yusuf S, Sleight P, Pogue J, et al. Effects of an angiotensin-converting-enzyme inhibitor, ramipril, on cardiovascular events in high-risk patients. The Heart Outcomes Prevention Evaluation Study Investigators. N Engl J Med 2000; 342: 145-53
107. Viberti G, Chaturvedi N. Angiotensin converting enzyme inhibitors in diabetic patients with microalbuminuria or normoalbuminuria. Kidney Int Suppl 1997; 63: S32-5
108. Steen VD, Medsger TA. Case-control study of corticosteroids and other drugs that either precipitate or protect from the development of scleroderma renal crisis. Arthritis Rheum 1998; 41: 1613-9