A missense Glu298Asp variant in the endothelial nitric oxide synthase gene is associated with coronary spasm in the Japanese

Human Genetics

Volumn 103, Issue 1, 1998, Pages 65-69

  Yoshimura, Michihiro ^a   Yasue, Hirofumi ^a   Nakayama, Masafumi ^a   Shimasaki, Yukio ^a   Sumida, Hitoshi ^a   Sugiyama, Seigo ^a   Kugiyama, Kiyotaka ^a   Ogawa, Hisao ^a   Ogawa, Yoshihiro ^b   Saito, Yoshihiko ^b   Miyamoto, Yoshihiro ^b   Nakao, Kazuwa ^b  

^a KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

^b KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINE; NITRIC OXIDE; NITRIC OXIDE SYNTHASE;

ADULT; AGED; ANGINA PECTORIS; ARTICLE; BLOOD VESSEL TONE; CONTROLLED STUDY; CORONARY ARTERY SPASM; ENVIRONMENTAL FACTOR; EXON; FEMALE; HEREDITY; HUMAN; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; SCREENING; VASCULAR ENDOTHELIUM;

ADULT; AGED; AMINO ACID SUBSTITUTION; ASPARTIC ACID; CORONARY VASOSPASM; EXONS; FEMALE; GENES, DOMINANT; GLUTAMIC ACID; HETEROZYGOTE; HOMOZYGOTE; HUMANS; JAPAN; MALE; MIDDLE AGED; NITRIC OXIDE SYNTHASE; NITRIC OXIDE SYNTHASE TYPE III; POINT MUTATION; POLYMERASE CHAIN REACTION; VARIATION (GENETICS);

ANGINA;

EID: 0031659845     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050785     Document Type: Article

References (43)

1. Bassenge E (1994) Coronary vasomotor responses: role of endothelium and nitrovasodilators. Cardiovasc Drugs Ther 8:600-612
2. Bertrand ME, LaBlanche JM, Tilmant PY, Thieuleux FA, Delforge MR, Carre AG, Asseman P, Berzin B, Libersa C, Laurent JM (1982) Frequency of provoked coronary arterial spasm in 1089 consecutive patients undergoing coronary arteriography. Circulation 65:1299-1306
3. Caralis DG, Deligonul U, Kern MJ, Cohen JD (1992) Smoking is a risk factor for coronary spasm in young women. Circulation 85:905-909
4. Chu A, Chambers DE, Lin CC, Kuehl WD, Palmer RMJ, Moncada S, Cobb FR (1991) Effects of inhibition of nitric oxide formation on basal vasomotion and endothelium-dependent responses of the coronary arteries in awake dogs. J Clin Invest 87:1964-1968
5. Conti CR (1983) Coronary-artery spasm and myocardial infarction. N Engl J Med 309:238-239
6. Cooke JP, Rossitch E, Andon NA Jr, Loscalzo J, Dzau VJ (1991) Flow activates an endothelial potassium channel to release an endogenous nitrovasodilator. J Clin Invest 88:1663-1671
7. Furchgott RF (1983) Role of endothelium in response of vascular smooth muscle. Circ Res 53:557-573
8. Hillis LD, Braunwald E (1978) Coronary-arter y spasm. N Engl J Med 299:695-702
9. Hoshio A, Kotake H, Mashiba H (1989) Significance of coronary artery tone in patients with vasospastic angina. J Am Coll Cardiol 14:604-609
10. Janssens SP, Shimouchi A, Quetermous T, Bloch DB, Bloch KD (1992) Cloning and expression of a cDNA encoding human endothelium-derived relaxing factor/nitric oxide synthase. J Biol Chem 267:14519-14522
11. Kugiyama K, Yasue H, Okumura K, Ogawa H, Fujimoto K, Nakao K, Yoshimura M, Motoyama T, Inobe Y, Kawano H (1996) Nitric oxide activity is deficient in spasm arteries of patients with coronary spastic angina. Circulation 94:266-272
12. Kugiyama K, Ohgushi M, Motoyama T, Sugiyama S, Ogawa H, Yoshimura M, Inobe Y, Hirashima O, Kawano H, Soejima H, Yasue H (1997a) Nitric oxide-mediated flow-dependent dilation is impaired in coronary arteries in patients with coronary spastic angina. J Am Coll Cardiol 30:920-926
13. Kugiyama K, Ohgushi M, Sugiyama S, Motoyama T, Kawano H, Hirashima O, Yasue H (1997b) Supersensitive dilator response to nitroglycerin but not atrial natriuretic peptide in spastic coronary arteries in coronary spastic angina. Am J Cardiol 79:606-610
14. Lamas S, Marsden PA, Li GK, Tempst P, Michel T (1992) Endothelial nitric oxide synthase: molecular cloning and characterization of a distinct constitutive enzyme isoform. Proc Natl Acad Sci USA 89:6348-6352
15. Lefroy DC, Crake T, Uren NG, Davies GJ, Maseri A (1993) Effect of inhibition of nitric oxide synthesis on epicardial coronary artery caliber and coronary blood flow in humans. Circulation 88:43-54
16. Ludmer PL, Selwyn AP, Shook TL, Wayne RR, Mudge GH, Alexander RW, Ganz P (1986) Paradoxical vasoconstriction induced by acetylcholine in atherosclerotic coronary arteries. N Engl J Med 315:1046-1051
17. Marsden PA, Schappert KT, Chen HS, Flowers M, Sundell CL, Wilcox JN, Lamus S, Michel T (1992) Molecular cloning and characterization of human endothelial cell nitric oxide synthase. FEBS Lett 307:287-293
18. Marsden PA., Heng HHQ, Scherer SW, Stewart RJ, Hall AV, Shi XM, Tsui LC, Schappert KT (1993) Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene. J Biol Chem 268:17478-17488
19. Maseri A, Davies G, Hackett D, Kaski JC (1990) Coronary artery spasm and vasoconstriction. The case for a distinction. Circulation 81:1983-1991
20. Miyahara K, Kawamoto T, Sase K, Yui Y, Toda K, Yang LX, Hattori R, Aoyama T, Yamamoto Y, Doi Y, Ogoshi S, Hashimoto K, Kawai C, Sasayama S, Shizuta Y (1994) Cloning and structural characterization of the human endothelial nitric-oxide-synthase gene. Eur J Biochem 223:719-726
21. Miwa K, Fujita M, Ejiri M, Sasayama S (1990) Comparative sensitivity of intracoronary injection of acetylcholine for the induction of coronary spasm in patients with various types of angina pectoris. Am Heart J 120:544-550
22. Moncada S, Palmer RM, Higgs EA (1991a) Nitric oxide: physiology, pathophysiology, and pharmacology. Pharmacol Rev 43:109-142
23. Moncada S, Rees DD, Schulz R, Palmer RMJ (1991b) Development and mechanism of a specific supersensitivity to nitrovasodilators after inhibition of vascular nitric oxide synthesis in vivo. Proc Natl Acad Sci USA 88:2166-2170
24. Motoyama T, Kawano H, Kugiyama K, Okumura K, Ohgushi M, Yoshimura M, Hirashima O, Yasue H (1997) Flow-mediated, endothelium-dependent dilation of the brachial arteries is impaired in patients with coronary spastic angina. Am Heart J 133:263-267
25. Murad F (1986) Cyclic guanosine monophosphate as a mediator of vasodilation. J Clin Invest 78:1-5
26. Nadaud S, Bonnardeaux A, Lathrop M, Soubrier F (1994) Gene structure, polymorphism and mapping of the human endothelial nitric oxide synthase gene. Biochem Biophys Res Commun 198:1027-1033
27. Nishida K, Harrison DG, Navas JP, Fisher AA, Dockery SP, Uematsu M, Nerem RM, Alexander RW, Murphy TJ (1992) Molecular cloning and characterization of the constitutive bovine aortic endothelial cell nitric oxide synthase. J Clin Invest 90:2092-2096
28. Okumura K, Yasue H, Horio Y, Takaoka K, Matsuyama K, Kugiyama K, Fujii H, Morikami Y (1988) Multivessel coronary spasm in patients with variant angina: a study with intracoronary injection of Acetylcholine. Circulation 77:535-542
29. Okumura K, Yasue H, Matsuyama K, Ogawa H, Kugiyama K, Ishizaka H, Sumida H, Fujii H, Matsunaga T, Tsunoda R (1996) Diffuse disorder of coronary artery vasomotility in patients with coronary spastic angina. Hyperreactivity to the constrictor effects of acetylcholine and the dilator effects of nitroglycerin. J Am Coll Cardiol 27:45-52
30. Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutation and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874-879
31. Quyyumi AA, Dakak N, Andrews NP, Gilligan DM, Panza JA, Cannon RO III (1995) Contribution of nitric oxide to metabolic coronary vasodilation in the human heart. Circulation 92:320-326
32. Saiki RK, Scharf S, Faloona F, Mullis KB, Horn GT, Erlich HA, Arnheim N (1985) Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle ell anemia. Science 230:1350-1354
33. Schaid DJ, Sommer SS (1993) Genotype relative risks: methods for design and analysis of candidate-gene association studies. Am J Hum Genet 53:1114-1126
34. Schulz GE, Friedman BJ, Chou PY, Fasman GD, Finkelstein AV, Lim VI, Pititsyn OB, Kabat EA, Wu TT, Levitt M, Robson B, Nagano K (1974) Comparison of predicted and experimentally determined secondary structure of adenyl kinase. Nature 250:140-142
35. Sessa WC, Harrison JK, Barber CM, Zeng D, Durieux ME, D'Angelo DD, Lynch KR, Peach MJ (1992) Molecular cloning and expression of a cDNA encoding endothelial cell nitric oxide synthase. J Biol Chem 267:15274-15276
36. Sugiishi M., Takatsu F (1993) Cigarette smoking is a major risk factor for coronary spasm. Circulation 87:76-79
37. Vita, JA, Treasure CB, Nabel EG, McLenachan JM, Fish RD, Yeung AC, Vekshtein VI, Selwyn AP, Ganz P (1990) Coronary vasomotor response to acetylcholine relates to risk factors for coronary artery disease. Circulation 81:491-497
38. Wang XL, Sim AS, Badenhop RF, McCredie RM, Wilcken DEL (1996) A smoking-dependent risk of coronary artery disease associated with a polymorphism of endothelial nitric oxide synthase gene. Nat Med 2:41-45
39. Yasue H, Kugiyama K (1990) Coronary artery spasm: Japanese view. Coronary Artery Dis 1:668-673
40. Yasue H, Omote S, Takizawa A, Nagao M, Miwa K, Tanaka S. (1979) Circadian variation of exercise capacity in patient with Prinzmetal's variant angina: role of exercise-induced coronary arterial spasm. Circulation 59:938-948
41. Yasue H, Omote S, Takizawa A, Nagao M (1983) Coronary arterial spasm in ischemic heart disease and its pathogenesis. A review. Circ Res 52 (Suppl I):147-152
42. Yasue H, Horio Y, Nakamura N, Fujii H, Imoto N, Sonoda R, Kugiyama K, Obata K, Morikami Y, Kimura T (1986) Induction of coronary artery spasm by acetylcholine in patients with variant angina: possible role of the parasympathetic nervous system in the pathogenesis of coronary artery spasm. Circulation 74:955-963
43. Yasue H, Matsuyama K, Matsuyama K, Okumura K, Morikami Y, Ogawa H (1990) Responses of angiographically normal human coronary arteries to intracoronary injection of acetylcholine by age and segment. Possible role of early coronary atherosclerosis. Circulation 81:482-490