Hemorheologic profile in systemic sclerosis: Role of NOS3 -786T>C and 894G>T polymorphisms in modulating both the hemorheologic parameters and the susceptibility to the disease

Arthritis and Rheumatism

Volumn 54, Issue 7, 2006, Pages 2263-2270

  Fatini, Cinzia ^a,b   Mannini, Lucia ^a   Sticchi, Elena ^a   Rogai, Veronica ^b   Guiducci, Serena ^b   Conforti, Maria Letizia ^b   Cinelli, Marina ^b   Pignone, Alberto Moggi ^b   Bolli, Paola ^a   Abbate, Rosanna ^a   Cerinic, Marco Matucci ^b  

^a CAREGGI UNIVERSITY HOSPITAL   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

NITRIC OXIDE SYNTHASE;

ADULT; AGED; ALLELE; ARTICLE; BLOOD RHEOLOGY; BLOOD VISCOSITY; CONFIDENCE INTERVAL; CONTROLLED STUDY; ERYTHROCYTE DEFORMABILITY; FEMALE; FLOW KINETICS; GENE; GENETIC POLYMORPHISM; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROANGIOPATHY; MICROCIRCULATION; NOS3 GENE; PATHOGENESIS; PRIORITY JOURNAL; RISK ASSESSMENT; SHEAR RATE; SYSTEMIC SCLEROSIS;

AGED; ALLELES; BLOOD CIRCULATION; BLOOD FLOW VELOCITY; BLOOD VISCOSITY; DNA; ERYTHROCYTE DEFORMABILITY; FEMALE; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MICROCIRCULATION; MIDDLE AGED; MULTIVARIATE ANALYSIS; NITRIC OXIDE SYNTHASE TYPE III; POLYMORPHISM, GENETIC; SCLERODERMA, SYSTEMIC;

EID: 33745935370     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/art.21933     Document Type: Article

References (45)

1. LeRoy EC. Systemic sclerosis: a vascular perspective. Rheum Dis Clin North Am 1996;22:675-94.
2. Rustin MH, Kovacs IB, Sowemino-Coker S, Maddison P, Kirby JD. Differences in red cell behavior between patients with Raynaud's phenomenon and systemic sclerosis. Br J Dermatol 1985;113:265-72.
3. Picart C, Carpentier PH, Galliard H, Piau JM. Blood yield stress in systemic sclerosis. Am J Physiol 1999;276:H771-7.
4. Picart C, Carpentier PH, Brasseur S, Galliard H, Piau JM. Systemic sclerosis: blood rheometry and laser Doppler imaging of digital cutaneous microcirculation during local cold exposure. Clin Hemorheol 1998;18:47-58.
5. Klingel R, Fassbender C, Fassbender T, Erdtracht B, Berrouschot J. Rheopheresis: rheologic, functional, and structural aspects. Ther Apher 2000;4:348-57.
6. Solans R, Motta C, Sola R, La Ville AE, Lima J, Simeon P, et al. Abnormalities of erythrocyte membrane fluidity, lipid composition, and lipid peroxidation in systemic sclerosis: evidence of free radical-mediated injury. Arthritis Rheum 2000;43:894-900.
7. Pohl U, Holtz J, Busse R, Bassenge E. Crucial role of endothelium in the vasodilator response to increased flow in vivo. Hypertension 1986;8:37-44.
8. Cooke JP, Rossitch E Jr, Andon NA, Loscalzo J, Dzau VJ. Flow activates an endothelial potassium channel to release an endogenous nitrovasodilator. J Clin Invest 1991;88:1663-71.
9. Ignarro LJ. Endothelium-derived nitric oxide: actions and properties. FASEB J 1989;3:31-6.
10. Loscalzo J. Nitric oxide insufficiency, platelet activation, and arterial thrombosis. Circ Res 2001;88:756-62.
11. Fatini C, Mannini L, Sticchi E, Cecchi E, Bruschettini A, Leprini E, et al. eNOS gene affects red cell deformability: role of T-786C, G894T, and 4a/4b polymorphisms. Clin Appl Thromb Hemost 2005;11:481-8.
12. Cotton SA, Herrick AL, Jayson MI, Freemont AJ. Endothelial expression of nitric oxide syntheses and nitrotyrosine in systemic sclerosis skin. J Pathol 1999;189:273-8.
13. Romero LI, Zhang DN, Cooke JP, Ho HK, Avalos E, Herrera R, et al. Differential expression of nitric oxide by dermal microvascular endothelial cells from patients with scleroderma. Vasc Med 2000;5:147-58.
14. Fatini C, Gensini F, Sticchi E, Battaglini B, Angotti C, Conforti ML, et al. High prevalence of polymorphisms of angiotensin-converting enzyme (I/D) and endothelial nitric oxide synthase (Glu298Asp) in patients with systemic sclerosis. Am J Med 2002;112:540-4.
15. Biondi ML, Marasini B, Leviti S, Turri O, Bernini M, Seminati R, et al. Genotyping method for point mutation detection in the endothelial nitric oxide synthase exon 7 using fluorescent probes. Clinical validation in systemic sclerosis patients. Clin Chem Lab Med 2001;39:281-2.
16. phox NADPH oxidase subunit (C242T) polymorphisms with systemic sclerosis in a cohort of French Caucasian patients. Clin Chim Acta 2004;350:51-5.
17. Assassi S, Mayes M, McNearney T, Fischbach M, Reveille JD, Arnett FC, et al. Polymorphisms of endothelial nitric oxide synthase and angiotensin- converting enzyme in systemic sclerosis. Am J Med 2005;118:907-11.
18. Tikly M, Gulumian M, Marshall S. Lack of association of eNOS(G894T) and p22phox NADPH oxidase subunit (C242T) polymorphisms with systemic sclerosis in a cohort of French Caucasian patients [letter]. Clin Chim Acta 2005;358:196-7.
19. ESH/ESC hypertension guidelines committee. Practice guidelines for primary care physicians: 2003 ESH/ESC Hypertension guidelines. Hypertension 2003;21:1779-86.
20. LeRoy EC, Black C, Fleischmajer R, Jablonska S, Krieg T, Medsger TA Jr, et al. Scleroderma (systemic sclerosis): classification, subsets and pathogenesis. J Rheumatol 1988;15:202-5.
21. Clements P, Lachenbruch P, Seibold J, White B, Weiner S, Martin R, et al. Inter and intraobserver variability of total skin thickness score (modified Rodnan TSS) in systemic sclerosis. J Rheumatol 1995;22:1281-5.
22. Cutolo M, Sulli A, Pizzorni C, Accardo S. Nailfold videocapillaroscopy assessment of microvascular damage in systemic sclerosis. J Rheumatol 2000;27:155-60.
23. Kahaleh B, Meyer O, Scorza R. Assessment of vascular involvement. CHn Exp Rheumatol 2003;21:S9-14.
24. ACC/AHA 2005 guideline update for the diagnosis and management of chronic heart failure in the adult: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Update the 2001 Guidelines for the Evaluation and Management of Heart Failure) [published erratum appears in J Am Coll Cardiol 2006;47:1503-5]. J Am Coll Cardiol 2005;46:e1-82.
25. Fatini C, Sofi F, Sticchi E, Gensini F, Gori AM, Fedi S, et al. Influence of endothelial nitric oxide synthase gene polymorphisms (G894T, 4a4b, T-786C) and hyperhomocysteinemia on the predisposition to acute coronary syndromes. Am Heart J 2004;147:516-21.
26. Mannini L, Paniccia R, Cecchi E, Alessandrello Liotta A, Leprini E, Berloco P, et al. Reduced erythrocyte deformability and hypercoagulability in idiopathic sudden sensorineural hearing loss. Clin Hemorheol 2005;33:47-55.
27. Ramakrishnan S, Grebe R, Singh M, Schmid-Schonbein H. Evaluation of hemorheological risk factor profile in plasmacytoma patients. Clin Hemorheol 1999;20:11-9.
28. Nakayama T, Yasue H, Yoshimura M, Shimasaki Y, Kugiyama K, Ogawa H, et al. T-786C mutation in the 5′-flanking region of the endothelial nitric oxide synthase gene is associated with coronary spasm. Circulation 1999;99:2864-70.
29. Cattaruzza M, Guzik TJ, Slodowski W, Pelvan A, Becker J, Halle M, et al. Shear stress insensitivity of endothelial nitric oxide synthase expression as a genetic risk factor for coronary heart disease. Circ Res 2004;95:841-7.
30. Sandrim VC, Coelho EB, Nobre F, Arado G, Lanchote VL, Tanus-Santos JE. Susceptible and protective eNOS haplotypes in hypertensive black and white subjects. Atherosclerosis 2005. E-pub ahead of print.
31. Allanore Y, Borderie D, Hilliquin P, Hernvann A, Levacher M, Lemarechal H, et al. Low levels of nitric oxide (NO) in systemic sclerosis: inducible NO synthase production is decreased in cultured peripheral blood monocyte/macrophage cells. Rheumatology (Oxford) 2001;40:1089-96.
32. Metzger IF, Souza-Costa DC, Marroni AS, Nagassaki S, Desta Z, Flockhart DA, et al. Endothelial nitric oxide synthase gene haplotypes associated with circulating concentrations of nitric oxide products in healthy men. Pharmacogenet Genomics 2005;15:565-70.
33. Hoffmann IS, Tavares-Mordwinkin R, Castejon AM, Alfieri AB, Cubeddu LX. Endothelial nitric oxide polymorphism, nitric oxide production, salt sensitivity and cardiovascular risk factors in Hispanics. J Hum Hypertens 2005;19:233-40.
34. Marroni AS, Metzger IF, Souza-Costa DC, Nagassaki S, Sandrim VC, Correa RX, et al. Consistent interethnic differences in the distribution of clinically relevant endothelial nitric oxide synthase genetic polymorphisms. Nitric Oxide 2005;12:177-82.
35. Korbut R, Gryglewski RJ. Nitric oxide from polymorphonuclear leukocytes modulates red blood cell deformability in vitro. Eur J Pharmacol 1993;234:17-22.
36. Bor-Kucukatay M, Wenby RB, Meiselman HJ, Baskurt OK. Effects of nitric oxide on red blood cell deformability. Am J Physiol Heart Circ Physiol 2003;284:H1577-84.
37. Bateman RM, Jagger JE, Sharpe MD, Ellsworth ML, Mehta S, Ellis CG, et al. Erythrocyte deformability is a nitric oxide-mediated factor in decreased capillary density during sepsis. Am J Physiol Heart Circ Physiol 2001;280:H2848-56.
38. Korbut R, Gryglewski RJ. The effect of prostacyclin and nitric oxide on deformability of red blood cells in septic shock in rats. J Physiol Pharmacol 1996;47:591-9.
39. + exchange by soluble and particulate guanylate cyclase. Am J Physiol Cell Physiol 1996;271:C1556-64.
40. +-ATPase activity through cyclic GMP pathway in proximal rat trachea. Eur J Pharmacol 1999;367:307-14.
41. 2+ uptake into platelet membrane vesicles. Biochem Biophys Res Commun 1996;222:780-5.
42. Tietjen GW, Chien S, LeRoy EC, Gavras I, Gavras H, Gump FE, et al. Blood viscosity, plasma proteins, and Raynaud syndrome. Arch Surg 1975;110:1343-6.
43. Tesauro M, Thompson WC, Rogliani P, Qi L, Chaudhary PP, Moss J. Intracellular processing of endothelial nitric oxide synthase isoforms associated with differences in severity of cardiopulmonary diseases: cleavage of proteins with aspartate vs. glutamate at position 298. Proc Natl Acad Sci U S A 2000;6:2832-5.
44. Wang XL, Mahaney MC, Sim AS, Wang J, Wang J, Blangero J, et al. Genetic contribution of the endothelial constitutive nitric oxide synthase gene to plasma nitric oxide levels. Arterioscler Thromb Vasc Biol 1997;17:3147-53.
45. Tsukada T, Yokoyama K, Arai T, Takemoto F, Hara S, Yamada A, et al. Evidence of association of the ecNOS gene polymorphism with plasma NO metabolite levels in humans. Biochem Biophys Res Commun 1998;245:190-3.