NOS2 polymorphisms associated with the susceptibility to pulmonary arterial hypertension with systemic sclerosis: Contribution to the transcriptional activity

Arthritis Research and Therapy

Volumn 8, Issue 4, 2006, Pages

  Kawaguchi, Yasushi ^a,a   Hara, Masako ^a   Kawamoto, Manabu ^a   Sugiura, Tomoko ^a   Katsumata, Yasuhiro ^a   Okada, Jun ^a   Kondo, Hirobumi ^b   Okubo, Mitsuo ^c   Kamatani, Naoyuki ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b KITASATO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c SAITAMA MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOTHELIN 1; INDUCIBLE NITRIC OXIDE SYNTHASE; NITRIC OXIDE;

ADOLESCENT; ADULT; AGED; BLOOD; COMPLICATION; FEMALE; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC TRANSCRIPTION; GENETICS; HAPLOTYPE; HUMAN; HYPERTENSION, PULMONARY; MALE; MIDDLE AGED; OSMOLARITY; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC SCLEROSIS; TANDEM REPEAT; VERY ELDERLY;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ENDOTHELIN-1; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; HYPERTENSION, PULMONARY; MALE; MIDDLE AGED; NITRIC OXIDE; NITRIC OXIDE SYNTHASE TYPE II; OSMOLAR CONCENTRATION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; SCLERODERMA, SYSTEMIC; TANDEM REPEAT SEQUENCES; TRANSCRIPTION, GENETIC;

EID: 70449586522     PISSN: 14786354     EISSN: 14786362     Source Type: Journal    
DOI: 10.1186/ar1984     Document Type: Article

References (48)

1. Varga J, Korn JH: Pathogenesis. Emphasis on human data. In Systemic Sclerosis 2nd edition. Edited by: Clements PJ, Furst DE. Philadelphia: Williams & Wilkins; 2004:63-97.
2. Coghlan JG, Mukerjee D: The heart and pulmonary vasculature in scleroderma: Clinical features and pathobiology. Curr Opin Rheumatol 2001, 13:495-499.
3. Kawut SM, Taichman DB, Archer-Chicko CL, Palevsky HI, Kimmel SE: Hemodynamics and survival in patients with pulmonary arterial hypertension related to systemic sclerosis. Chest 2003, 123:344-350.
4. Cooke JP: A novel mechanism for pulmonary arterial hypertension. Circulation 2003, 108:1420-1421.
5. Stewart DJ, Levy RD, Cernacek P, Langleben D: Increased plasma endothelin-1 in pulmonary hypertension: Marker or mediator of disease? Ann Intern Med 1991, 114:464-469.
6. Giaid A, Yanagisawa M, Langleben D, Michel RP, Levy R, Shennib H, Kimura S, Masaki T, Duguid WP, Stewart DJ: Expression of endothelin-1 in the lungs of patients with pulmonary hypertension. N Engl J Med 1993, 328:1732-1739.
7. Rubens C, Ewert R, Halank M, Wensel R, Orzechowski HD, Schultheiss HP, Hoeffken G: Big endothelin-1 and endothelin-1 plasma levels are correlated with the severity of primary pulmonary hypertension. Chest 2001, 120:1562-1569.
8. Kharitonov SA, Cailes JB, Black CM, du Bois RM, Barnes PJ: Decreased nitric oxide in the exhaled air of patients with systemic sclerosis with pulmonary hypertension. Thorax 1997, 52:1051-1055.
9. Rolla G, Colagrande P, Scappaticci E, Chiavassa G, Dutto L, Cannizzo S, Bucca C, Morello M, Bergerone S, Bardini D, et al.: Exhaled nitric oxide in systemic sclerosis: Relationships with lung involvement and pulmonary hypertension. J Rheumatol 2000, 27:1693-1698.
10. Kaneko FT, Arroliga AC, Dweik RA, Comhair SA, Laskowski D, Oppedisano R, Thomassen MJ, Erzurum SC: Biochemical reaction reaction products of nitric oxide as quantitative markers of primary pulmonary hypertension Am J Respir Crit Care Med 1998, 158:917-923.
11. Cella G, Bellotto F, Tona F, Sbarai A, Mazzaro G, Motta G, Fareed J: Plasma markers of endothelial dysfunction in pulmonary hypertension. Chest 2001, 120:1226-1230.
12. Machado RF, Londhe Nerkar MV, Dweik RA, Hammel J, Janocha A, Pyle J, Laskowski D, Jennings C, Arroliga AC, Erzurum SC: Nitric oxide and pulmonary arterial pressures in pulmonary hypertension. Free Radic Biol Med 2004, 37:1010-1017.
13. Morelli S, Ferri C, Polettini E, Bellini C, Gualdi GF, Pittoni V, Valesini G, Santucci A: Plasma endothelin-1 levels, pulmonary hypertension, and lung fibrosis in patients with systemic sclerosis. Am J Med 1995, 99:255-260.
14. Yamane K, Miyauchi T, Suzuki N, Yuhara T, Akama T, Suzuki H, Kashiwagi H: Significance of plasma endothelin-1 levels in patients with systemic sclerosis. J Rheumatol 1992, 19:1566-1571.
15. Yamamoto T, Katayama I, Nishioka K: Nitric oxide production and inducible nitric oxide synthase expression in systemic sclerosis. J Rheumatol 1998, 25:314-317.
16. Andersen GN, Caidahl K, Kazzam E, Petersson AS, Waldenstrom A, Mincheva-Nilsson L, Rantapaa-Dahlqvist S: Correlation between increased nitric oxide production and markers of endothelial activation in systemic sclerosis: Findings with the soluble adhesion molecules E-selectin, intercellular adhesion molecule 1, and vascular cell adhesion molecule 1. Arthritis Rheum 2000, 43:1085-1093.
17. Cotton SA, Herrick AL, Jayson MI, Freemont AJ: Endothelial expression of nitric oxide synthases and nitrotyrosine in systemic sclerosis skin J Pathol 1999, 189:273-278.
18. Sud A, Khullar M, Wanchu A, Bambery P: Increased nitric oxide production in patients with systemic sclerosis. Nitric Oxide 2000, 4:615-619.
19. Kahaleh BM, Pan-Sheng F, Cerinic MM, Stefanovic Racic M, Ignarro L: Study of endothelial dependent relaxation in scleroderma. Arthritis Rheum 1993, 36:S180.
20. Allanore Y, Borderie D, Hilliquin P, Hernvann A, Levacher M, Lemarechal H, Ekindjian OG, Kahan A: Low levels of nitric oxide (NO) in systemic sclerosis: Inducible NO synthase production is decreased in cultured peripheral blood monocyte/macrophage cells. Rheumatology 2001, 40:1089-1096.
21. Takagi K, Kawaguchi Y, Hara M, Sugiura T, Harigai M, Kamatani N: Serum nitric oxide (NO) levels in systemic sclerosis patients: correlation between NO levels and clinical features. Clin Exp Immunol 2003, 134:538-544.
22. Palmer RM, Ashton DS, Moncada S: Vascular endothelial cells synthesize nitric oxide from L-arginine. Nature 1988, 333 664-666.
23. Forstermann U, Gath I, Schwarz P, Closs EI, Kleinert H: Isoforms of nitric oxide synthase. Properties, cellular distribution and expressional control. Biochem Pharmacol 1995, 50 1321-1332.
24. Nathan C, Xie QW: Regulation of biosynthesis of nitric oxide. J Biol Chem 1994, 269:13725-13728.
25. Channick RN, Simonneau G, Sitbon O, Robbins IM, Frost A, Tapson VF, Badesch DB, Roux S, Rainisio M, Bodin F, Rubin LJ: Effects of the dual endothelin-receptor antagonist bosentan in patients with pulmonary hypertension: A randomized placebocontrolled study. Lancet 2001, 358:1119-1123.
26. Rubin LJ, Badesch DB, Barst RJ, Galie N, Black CM, Keogh AK, Pulido T, Frost A, Roux S, Leconte I, et al.: Bosentan in patients with pulmonary arterial hypertension: A randomized, placebo controlled, multicenter study. N Engl J Med 2002, 346:896-903.
27. Mehta S: Sildenafil for pulmonary arterialEhypertension: exciting, but protection required. Chest 2003, 123:989-992.
28. McMullan DM, Bekker JM, Johengen MJ, Hendricks-Munoz K, Gerrets R, Black SM, Fineman JR: Inhaled nitric oxide-induced rebound pulmonary hypertension: A role for endothelin-1. Am J Physiol Heart Circ Physiol 2001, 280:H777-H785.
29. Ghofrani HA, Pepke-Zaba J, Barbera JA, Channick R, Keogh AM, Gomez-Sanchez MA, Kneussl M, Grimminger F: Nitric oxide pathway and phosphodiesterase inhibitors in pulmonary arterial hypertension. J Am Coll Cardiol 2004, 43:68S-72S.
30. Johannesen J, Tarnow L, Parving H-H, Nerup J, Pociot F: CCTTTrepeat polymorphism in the human NOS2-promoter confers low risk of diabetic nephropathy in type 1 diabetic patients. Diabetes Care 2000, 23:560-562.
31. Konno S, Hizawa N, Yamaguchi E, Jinushi E, Nishimura M: (CCTTT)n repeat polymorphism in the NOS2 gene promoter is associated with atopy J Allergy 2001, 108:810-814.
32. Hobbs MR, Udhayakumar V, Levesque MC, Booth J, Roberts JM, Tkachuk A: A new NOS2 promoter polymorphism associated with increased nitric oxide production and protection from severe malaria in Tanzanian and Kenyan children. Lancet 2002, 360:1468-1475.
33. Subcommittee for Scleroderma Criteria of the American Rheumatism Association Diagnostic and Therapeutic Criteria Committee: Preliminary criteria for the classification of systemic sclerosis (scleroderma). Arthritis Rheum 1980, 23:581-590.
34. LeRoy EC, Black C, Fleischmajer R, Jablonska S, Krieg T, Medsger TA Jr, Rowell N, Wollheim F: Scleroderma (systemic sclerosis): classification subsets and pathogenesis. J Rheumatol 1988, 15:202-205.
35. Rich S, Dantzker DR, Ayres SM, Bergofsky EH, Brundage BH, Detre KM, Fishman AP, Goldring RM, Groves BM, Koerner SK, et al.: Primary pulmonary hypertension. A national prospective study. Ann Intern Med 1987, 107:216-223.
36. Ito T, Inoue E, Kamatani N: Association test algorithm between a qualitative phenotype and a haplotype or haplotype set using simultaneous estimation of haplotype frequencies, diplotype configurations and diplotype-based penetrances. Genetics 2004, 168:2339-2348.
37. Giaid A, Saleh D: Reduced expression of endothelial nitric oxide synthase in the lungs of patients with pulmonary hypertension. N Engl J Med 1995, 333:214-221.
38. Xue C, Johns RA: Endothelial nitric oxide synthase in the lungs of patients with pulmonary hypertension. N Engl J Med 1995, 333 1642-1644.
39. Xue C, Johns RA: Upregulation of nitric oxide synthase correlates temporally with onset of pulmonary vascular remodeling in the hypoxic rat. Hypertension 1996, 28:743-753.
40. Demoncheaux EAG, Higenbottam TW, Kiely DG, Wong J-M, Wharton S, Varcoe R, Siddons T, Spivey AC, Hall K, Gize AP: Decreased whole body endogenous nitric oxide production in patients with primary pulmonary hypertension. J Vasc Res 2005, 42:133-136.
41. Humbert M, Monti G, Brenot F, Sitbon O, Portier A, Grangeot- Keros L, Duroux P, Galanaud P, Simonneau G, Emilie D: Increased interleukin-1 and interleukin-6 serum concentrations in severe primary pulmonary hypertension. Am J Respir Crit Care Med 1995, 151 1628-1631.
42. Kadono T, Kikuchi K, Ihn H, Takehara K, Tamaki K: Increased production of interleukin 6 and interleukin 8 in scleroderma fibroblasts J Rheumatol 1998, 25:296-301.
43. Kawaguchi Y, Suzuki K, Hara M, Hidaka T, Ishizuka T, Kawagoe M, Nakamura H: Increased endothelin-1 production in fibroblasts derived from patients with systemic sclerosis. Ann Rheum Dis 1994, 53 506-510.
44. Kawaguchi Y: IL-1β gene expression and protein production by fibroblasts from patients with systemic sclerosis. Clin Exp Immunol 1994, 97:445-450.
45. Gay G, Webb DJ: The endothelin system and its potential as a therapeutic target in cardiovascular disease. Pharmacol Ther 1996, 72:109-148.
46. Burgner D, Usen S, Rockett K, Jallow M, Ackerman H, Cervino A, Pinder M, Kwiatkowski DP: Nucleotide and haplotypic diversity of the NOS2A promoter region and its relationship to cerebral malaria. Hum Genet 2003, 112:379-386.
47. Warpeha KM, Xu W, Liu L, Charles IG, Patterson CC, Ah-Fat F, Harding S, Hart PM, Chakravarthy U, Hughes AE: Genotyping and functional analysis of a polymorphic (CCTTT)n repeat of NOS2A in diabetic retinopathy. FASEB J 1999, 13:1825-1832.
48. Boutlis CS, Hobbs MR, Marsh RL, Misukonis MA, Tkachuk AN, Lagog M, Booth J, Granger DL, Bockarie MJ, Mgone CS, et al.: Inducible nitric oxide synthase (NOS) promoter CCTTT repeat polymorphism: Relationship to in vivo nitric oxide production/NOS activity in an asymptomatic malaria-endemic population. Am J Trop Med Hyg 2003, 69 569-573.