Role of genetic changes in the progression of cardiovascular diseases

International Journal of Biomedical Science

Volumn 7, Issue 4, 2011, Pages

  Sheweita, S A ^a,b   Baghdadi, H ^a   Allam, A R ^b  

^a ALEXANDRIA UNIVERSITY   (Egypt)

^b TAIBAH UNIVERSITY   (Saudi Arabia)

Author keywords

Cardiovascular diseases; Genetic polymorphisms of nitric oxidesynthase; Hyperhomocysteinemia polymorphisms; Hyperlipidemia; Paraoxonase polymorphisms

Indexed keywords

ADENINE; ARYLDIALKYLPHOSPHATASE; CYSTATHIONINE BETA SYNTHASE; CYTOSINE; ENDOTHELIAL NITRIC OXIDE SYNTHASE; FIBRINOGEN; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; GLUTATHIONE PEROXIDASE 3; GLUTATHIONE TRANSFERASE; HIGH DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN; NITRIC OXIDE; POLYPEPTIDE; REACTIVE OXYGEN METABOLITE; THYMINE; 5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ARYLDIALKYLPHOSPHATASE 1; GLUTATHIONE TRANSFERASE M1; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPOPROTEIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE; PROPROTEIN CONVERTASE SUBTILISIN LIKE KEXIN TYPE 9; SERINE PROTEINASE; UNCLASSIFIED DRUG;

ALLELE; ARTERY THROMBOSIS; ATHEROGENESIS; ATHEROMA; BASE PAIRING; BLOOD CLOTTING; BRAIN INFARCTION; CARDIOVASCULAR DISEASE; CARDIOVASCULAR RISK; CEREBROVASCULAR ACCIDENT; CEREBROVASCULAR DISEASE; CORONARY ARTERY DISEASE; CORONARY ARTERY SPASM; CYSTATHIONINE BETA SYNTHASE DEFICIENCY; DISEASE COURSE; DISEASE PREDISPOSITION; DYSLIPIDEMIA; ENDOTHELIAL NITRIC OXIDE SYNTHASE GENE; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; ENZYME DEFICIENCY; GENE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; GLUTATHIONE PEROXIDASE 3 GENE; GLUTATHIONE PEROXIDASE BLOOD LEVEL; HIGH RISK POPULATION; HOMOZYGOSITY; HUMAN; HYPERHOMOCYSTEINEMIA; IN VITRO STUDY; IN VIVO STUDY; INTRON; LIPOPROTEIN METABOLISM; LOW DENSITY LIPOPROTEIN RECEPTOR GENE; METHYLENETETRAHYDROFOLATE REDUCTASE GENE; NUCLEIC ACID BASE SUBSTITUTION; PATHOGENESIS; POINT MUTATION; PROMOTER REGION; REVIEW; VARIABLE NUMBER OF TANDEM REPEAT; VASODILATATION; ATHEROSCLEROSIS; DISEASE ASSOCIATION; DISEASE SEVERITY; GENE FUNCTION; GENE MUTATION; GLUTATHIONE PEROXIDASE GENE; LIPID OXIDATION; LOW DENSITY LIPOPROTEIN GENE; PROTEIN DEPLETION; RISK FACTOR;

EID: 84855488667     PISSN: 15509702     EISSN: 15552810     Source Type: Journal    
DOI: None     Document Type: Review

References (133)

1. Karasek J, Widimsky P, Ostadal P, Hrabakova H, et al. Acute heart failure registry from high-volume university hospital ED: comparing European and US data. Am. J. Emerg. Med. 2011 Jun 2. PMID: 21641150 (Epub ahead of print).
2. Orlova IA, Nuraliev EY, Yarovaya EB, Ageev FT. Prognostic value of changes in arterial stiffness in men with coronary artery disease. Vasc. Health Risk. Manag. 2010; 4 (6): 1015-1021.
3. Ross R, Fuster V. The pathogenesis of atherosclerosis. In: Fuster V, Ross R, Topol EJ, eds. Atherosclerosis and coronary artery disease. Philadelphia, PA: Lippincott-Raven. 1996; p441-601.
4. Okazaki S, Furukado S, Abe Y, Tanaka M, et al. Association of inflammatory markers and carotid intima-media thickness with the risk of cardiovascular events in high-risk patients. Cerebrovasc. Dis. 2010; 30 (2): 180-187.
5. Smet BJ, Zijlstra F, Rihal CS, Holmes DR. Mahmoud KD Sudden cardiac death: epidemiology, circadian variation, and triggers. Curr. Probl. Cardiol. 2011; 36 (2): 56-80.
6. Kyrle PA, Rosendaal FR, Eichinger S. Risk assessment for recurrent venous thrombosis. Lancet. 210; 376 (9757): 2032-2039.
7. Falcão-Pires I, & Leite-Moreira AF. Diabetic cardiomyopathy: understanding the molecular and cellular basis to progress in diagnosis and treatment. Heart Fail Rev. 2011. PMID: 21626163 (Epub ahead of print).
8. Ajabnoor MA, AL-Ama MN, Banjar Z, Rafee AA, et al. Homocysteine level and other biochemical parameters in cardiovascular disease patients with diabetes mellitus. Med. Sci. Monit. 2003; 9 (12): CR523-527.
9. Chen Q, Reis SE, Kammerer C, Craig W, et al. Association of antioxidized LDL and candidate genes with severity of coronary stenosis in the Women's Ischemia Syndrome Evaluation study. J. Lipid. Res. 2011; 52 (4): 801-807.
10. Sheweita SA. Risk factors of cardiovascular diseases: Hyperlipidemia, smoking, and diabetes mellitus. J. Egyp. Societ. Cardiovasc. Dise. 2010; 2: 23-35.
11. Czernichow S, Thomas D, Bruckert E. N-6 Fatty acids and cardiovascular health: a review of the evidence for dietary intake recommendations. Br. J. Nutr. 2010; 104 (6): 788-796.
12. McNamara DJ, Kolb R, Parker TS, et al. Heterogeneity of cholesterol homeostasis in man: Response to changes in dietary fat quality and cholesterol quantity. J. Clin. Invest. 1987; 79: 1729-1739.
13. Schaefer EJ, Lamon-Fava S, Ausman LM, et al. Individual variability in lipoprotein cholesterol response to National Cholesterol Education Program Step 2 diets. Am. J. Clin. Nutr. 1997; 65: 823-830.
14. Reiner Z, Sonicki Z, Tedeschi-Reiner E. Public perceptions of car diovascular risk factors in Croatia: The PERCRO survey. Prev. Med. 2010; 51 (6): 494-496.
15. Katan MB, Beynen AC, de Vries JH, Nobels A. Existence of consistent hypo-and hyperresponders to dietary cholesterol in man. Am. J. Epidemiol. 1986; 123: 221-234.
16. Beynen AC, Katan MB, van Zutphen LFM. Hypo-and hyperresponders: individual differences in the response of serum cholesterol concentration to changes in diet. Adv. Lipid Res. 1987; 22: 115-171.
17. Talmud PJ, Drenos F, Shah S, Shah T, et al. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Am. J. Hum. Genet. 2009; 85 (5): 628-642.
18. Nabel, E.G. Cardiovascular disease. N. Engl. J. Med. 2003; 349: 60-72.
19. Yong EL, Li J, Liu MH. Single gene contributions: genetic variants of peroxisome proliferator-activated receptor (isoforms alpha, beta/delta and gamma) and mechanisms of dyslipidemias. Curr. Opin. Lipidol. 2008; 19 (2): 106-112.
20. Masson LF, McNeill G, Avenell A. Genetic variation and the lipid response to dietary intervention: asystematic review. Am. J. Clin. Nutr. 2003; 77: 1098-1011.
21. Garg A, Simha V. Update on Dyslipidemia. J. Clin. Endocrinol. Metab. 2007; 92 (5): 1581-1589.
22. Goldstein JL, Brown MS. The LDL receptor locus and the genetics of familial hypercholesterolemia. Ann. Rev. Genet. 1979; 13: 259-289.
23. Eden ER, Naoumova RP, Burden JJ, McCarthy MI, et al. Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families. Am. J. Hum. Genet. 2001; 68 (3): 653-660.
24. Van Aalst-Cohen ES, Jansen AC, Tanck MW, Defesche JC, et al. Diagnosing familial hypercholesterolaemia: the relevance of genetic testing. Eur. Heart J. 2006; 27: 2240-2246.
25. Marais AD, Firth JC, Blom DJ. Homozygous familial hypercholesterolemia and its management. Semin. Vasc. Med. 2004; 4 (1): 43-50.
26. Gasparovic J, Basistova Z, Fabryova L, Wsolova L, et al. Familial defective apolipoprotein B-100 in Slovakia: Are differences in prevalence of familial defective apolipoprotein B-100 explained by ethnicity?. Atheroscl. 2007; 194 (2): e95-107.
27. Millan E, Ascaso JF, Carmena R. Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligandbinding domain and the R3500Q mutation of the apoB gene in patients from a South European population. Transl. Res. 2008; 151 (3): 162-167.
28. Kotzka J, Knebel B, Janssen OE, Schaefer JR, et al. Identification of a gene variant in the master regulator of lipid metabolism SREBP-1 in a family with a novel form of severe combined hypolipidemia. Atheroscl. 2011. PMID: 21645898 (Epub ahead of print).
29. Soufi M, Sattler AM, Maerz W, Starke A, et al. A new but frequent mutation of apoB-100-apoB His3543Tyr. Atheroscl. 2004; 174: 11-16.
30. Fouchier SW, Kastelein JJ, Defesche JC. Update of the molecular basis of familial hypercholesterolemia in The Netherlands. Hum. Mutat. 2005; 26: 550-556.
31. Fouchier SW, Defesche JC, Kastelein JJ, Sijbrands EJ. Familial defective apolipoprotein B versus familial hypercholesterolemia: an assessment of risk. Semin. Vasc. Med. 2004; 4: 259-264.
32. Schaefer JR, Scharnagl H, Baumstark MW, Schweer H, et al. Homozygous familial defective apolipoprotein B-100. Enhanced removal of apolipoprotein E-containing VLDLs and decreased production of LDLs. Arterio. Thromb. Vasc. Biol. 1997; 17: 348-353.
33. Etxebarria A, Palacios L, Stef M, Tejedor D, et al. Functional characterization of splicing and ligand-binding domain variants in the LDL receptor. Hum. Mutat. 2011. doi: 10.1002 [Epub ahead of print].
34. Maxwell KN, Fisher EA, Breslow JL. Overexpression of PCSK9 accelerates the degradation of the LDLR in a post-endoplasmic reticulum compartment. Proc. Natl. Acad. Sci. USA. 2005; 102: 2069-2074.
35. Diakou M, Miltiadous G, Xenophontos SL, Manoli P, et al. Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece. Eur. J. Intern. Med. 2011; 22 (5): e55-59.
36. Timms KM, Wagner S, Samuels ME, Forbey K, et al. A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. Hum. Genet. 2004; 114: 349-353.
37. Vaca G, Vàzquez A, Magaña MT, Ramìrez ML, et al. Mutational analysis of the LDL receptor and APOB genes in Mexican individuals with autosomal dominant hypercholesterolemia. Atheroscl. 2011; 218 (2): 391-396.
38. Marduel M, Carrié A, Sassolas A, et al., Molecular spectrum of autosomal dominant hypercholesterolemia in France. Hum. Mutat. 2010; 31 (11): E1811-1824.
39. Cohen J, Pertsemlidis A, Kotowski IK, Graham R, et al. Low, LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat. Genet. 2005; 37: 161-165.
40. Cohen JC, Boerwinkle E, Mosley Jr. TH, Hobbs HH. Sequence variations in PCSK9., low LDL., and protection against coronary heart disease. N. Engl. J. Med. 2006; 354: 1264-1272.
41. Tibolla G, Norata GD, Artali R, Meneghetti F, et al. Proprotein convertase subtilisin/kexin type 9 (PCSK9): From structure-function relation to therapeutic inhibition. Nutr. Metab. Cardiovasc. Dis. 2011; 21 (11): 835-843.
42. Haddad L, Day IN, Hunt S, Williams RR, et al. Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred. J. Lipid Res. 1999; 40: 1113-1122.
43. Garuti R, Jones C, Li WP, Michaely P, et al. The modular adaptor protein autosomal recessive hypercholesterolemia (ARH) promotes low density lipoprotein receptor clustering into clathrin-coated pits. J. Biol. Chem. 2005; 280: 40996-41004.
44. Pisciotta L, Oliva CP, Pes GM, Di Scala L, et al. Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison. Atheroscl. 2006; 188: 398-405.
45. Berge KE, Tian H, Graf GA, Yu L, et al. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Scien. 2000; 290: 1771-1775.
46. Lee MH, Lu K, Hazard S, Yu H, et al. Identification of a gene., ABCG5 important in the regulation of dietary cholesterol absorption. Nat. Genet. 2001; 27: 79-83.
47. Hazard SE, Patel SB. Sterolins ABCG5 and ABCG8 regulators of whole body dietary sterols. Pflugers Arch. 2007; 453: 745-752.
48. Rodríguez F, Yaridé E, Trujillo H, Macías A, et al. Concerning the Significance of Paraoxonase-1 and SR-B1Genes in Atherosclerosis. Rev. Esp. Cardiol. 2006; 59 (2): 154-164.
49. Soran H, Younis NN, Charlton-Menys V, Durrington P. Variation in paraoxonase-1 activity and atherosclerosis. Curr Opin Lipidol. 2009; 20 (4): 265-274.
50. Deakin S, Leviev I, Gomeraschi M, Calabresi L, et al. Enzymatically active paraoxonase-1 is located at the external membrane of producing cells and released by a high-affinity, saturable, desorption mechanism. J. Biol. Chem. 2002; 277: 4301-4318.
51. Précourt LP, Amre D, Denis MC, Lavoie JC, et al. The three-gene paraoxonase family: physiologic roles, actions and regulation. Atheroscl. 2011; 214 (1): 20-36.
52. Costa LG, Cole TB, Jarvik GP, Furlong CE. Functional genomics of the paraoxonase (PON1) polymorphisms: effect on pesticide sensitivity, cardiovascular disease and drug metabolism. Ann. Rev. Med. 2003; 54: 371-392.
53. Chi DS, Ling WH, Ma J, Xia M, et al. Study of the association between paraoxonase1 55 Met/Leu, paraoxonase2 148 Ala/Gly and manganese superoxide dismutase (MnSOD) 9 Ala/Val genetic polymorphisms and coronary heart disease. Zhonghua Liu Xing Bing Xue Za Zhi. 2006; 27 (9): 808-813.
54. Tomás M, Latorre G, Sentí M, Marrugat J. The antioxidant function of high density lipoproteins: a new paradigm in atherosclerosis. 2004; 57 (6): 557-569.
55. Jarvik GP, Jampsa R, Richter RJ, Carlson CS, et al. Novel paraoxonase (PON1) nonsense and missense mutations predicted by functional genomic assay of PON1 status. Pharmacogen. 2003; 13: 291-295.
56. Brophy VH, Jampsa RL, Clendenning JB, McKinstry LA, et al. Effects of 5' regulatory-region polymorphisms on paraoxonase gene (PON1) expression. Am. J. Hum. Genet. 2001; 68: 1428-1436.
57. Dahabreh IJ, Kitsios GD, Kent DM, Trikalinos TA. Paraoxonase 1 polymorphisms and ischemic stroke risk: A systematic review and meta-analysis. Genet Med. 2010; 12 (10): 606-615.
58. Sanghera DK, Manzi S, Minster RL, Shaw P, et al. Genetic variation in the paraoxonase-3 (PON3) gene is associated with serum PON1 activity. Ann. Hum. Genet. 2008; 72 (Pt 1): 72-81.
59. Loscalzo J, Welch G. Nitric oxide and its role in the cardiovascular system. Prog. Cardiovasc. Dis. 1995; 38: 87-104.
60. Rekka EA, Chrysselis MC. Nitric oxide in atherosclerosis. Mini Rev Med Chem. 2002; 2 (6): 585-593.
61. Marsden PA, Heng HH, Scherer SW, Stewart RJ, et al. Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene. J. Biol. Chem. 1993; 268: 17478-17488.
62. Tsukada T, Yokoyama K, Arai T, Takemoto F, et al. Evidence of association of the ecNOS gene polymorphism with plasma NO metabolite levels in humans. Biochem. Biophys. Res. Commun. 1998; 245: 190-193
63. Cheng J, Liu J, Li X, Yu L, et al. Effect of polymorphisms of endothelial nitric oxide synthase on ischemic stroke: a case-control study in a Chinese population. Clin. Chim. Acta. 2008; 392 (1-2): 46-51.
64. Nakayama M, Yasue H, Yoshimura M, Shimasaki Y, et al. T(-7863C) mutation in the 5-flanking region of the endothelial nitric oxide synthase gene is associated with coronary spasm. Circulat. 1999; 99: 2864-2870.
65. Yamada M, Huang Z, Dalkara T, Endres M, et al. Endothelial nitric oxide synthase dependent cerebral blood flow augmentation by L-arginine after chronic statin treatment. J. Cereb. Blood Flow. Metab. 2000; 20: 709-717.
66. Rossi GP, Taddei S, Virdis A, Cavallin M, et al. The T-786C and Glu-298Asp polymorphisms of the endothelial nitric oxide gene affect the forearm blood flow responses of Caucasian hypertensive patients. J. Am. Coll. Cardiol. 2003; 41: 938-945.
67. Yoshimura M, Yasue H, Nakayama M, Shimasaki Y, et al. A missense Glu298Asp variant in the endothelial nitric oxide synthase gene is associated with coronary spasm in the Japanese. Hum. Genet. 1998; 103: 65-69.
68. Ellul J, Markoula S, Marousi S, Galidi A, et al. Association of endothelial nitric oxide synthase polymorphism G894T with functional outcome in acute stroke patients. Neurol. Res. 2011; 33 (8): 835-840.
69. Shankarishan P, Borah PK, Ahmed G, Mahanta J. Prevalence of endothelial nitric oxide synthase (eNOS) gene exon 7 Glu298Asp variant in North Eastern India. Indian J. Med. Res. 2011; 133 (5): 487-491.
70. Bhanoori M. Endothelial nitric oxide synthase (eNOS) variants in cardiovascular disease: pharmacogenomic implications. Indian J. Med. Res. 2011; 133 (5): 464-466.
71. Maddipati KR, Marnett LJ. Characterization of the major hydroperoxidereducing activity of human plasma. Purification and properties of a selenium-dependent glutathione peroxidase. J. Biol. Chem. 1987; 262: 17398-17403.
72. Takahashi K, Avissarm N, Whitinm J, Cohenm H. Purification and characterization of human plasma glutathione peroxidase: a selenoglycoprotein distinct from the known cellular enzyme. Arch Biochem Biophys. 1987; 256: 677-686.
73. Upchurch GR Jr, Ramdev N, Walsh MT, Loscalzo J. Prothrombotic consequences of the oxidation of fibrinogen and their inhibition by aspirin. J. Thromb. Thrombolysis. 2004; 5: 9-14.
74. Vadseth C, Souza JM, Thomson L, Seagraves A, et al. Pro-thrombotic state induced by post-translational modification of fibrinogen by reactive nitrogen species. J Biol Chem. 2004; 279: 8820-8826.
75. Freedman JE, Loscalzo J, Benoit SE, Valeri CR, et al. Decreased platelet inhibition by nitric oxide in two brothers with a history of arterial thrombosis. J. Clin. Invest. 1996; 97: 979-987.
76. Kenet G, Freedman J, Shenkman B, Regina E, et al. Plasma glutathione peroxidase deficiency and platelet insensitivity to nitric oxide in children with familial stroke. Arterioscler. Thromb. Vasc. Biol. 1999; 19: 2017-2023.
77. Bierl C, Voetsch B, Jin RC, Handy DE, et al. Determinants of human plasma glutathione peroxidase (GPx-3) expression. J. Biol. Chem. 2004; 279: 26839-26845.
78. Loscalzo J, Welch G. Nitric oxide and its role in the cardiovascular system. Prog. Cardiovasc. Dis. 1995; 38: 87-104.
79. Dogru-Abbasoglu S, Kanbagli O, Bulur H, et al. Lipid peroxides and antioxidant status in serum of patients with angiographically defined coronary atherosclerosis. Clin. Biochem. 1999; 32: 671-672.
80. Voetsch B, Jin RC, Bierl C, et al. Promoter Polymorphisms in the Plasma Glutathione Peroxidase (GPx-3) Gene: A Novel Risk Factor for Arterial Ischemic Stroke Among Young Adults and Children. Stroke. 2007; 38: 41-49.
81. Voetsch B, Jin RC, Bierl C, Deus-Silva L, et al. Role of Promoter Polymorphisms in the Plasma Glutathione Peroxidase (GPx-3) Gene as a Risk Factor for Cerebral Venous Thrombosis. Stroke. 2008; 39: 303-307.
82. Aykac-Toker G, Uysal M. Lipid peroxides and antioxidant status in serum of patients with angiographically defined coronary atherosclerosis. Clin. Biochem. 1999; 32: 671-672.
83. Muzakova V, Kandar R, Vojtisek P, Skalicky J, et al. Selective antioxidant enzymes during ischemia/reperfusion in myocardial infarction. Physiol. Res. 2000; 49: 315-322.
84. Tang NP, Wang LS, Yang L, Gu HJ, et al. Genetic variant in glutathione peroxidase 1 gene is associated with an increased risk of coronary artery disease in a Chinese population. Clin. Chim. Acta. 2008; 395 (1-2): 89-93.
85. Nemoto M, Nishimura R, Sasaki T, Hiki Y, et al. Genetic association of glutathione peroxidase-1 with coronary artery calcification in type 2 diabetes: a case control study with multi-slice computed tomography. Cardiovasc. Diabetol. 2007; 6: 23-30.
86. Meister A. Metabolism and function of glutathione. In Glutathione: Chemical, Biochemical and Medical Aspects (Dolphin D, Poulson R, Avramovic O, eds). New York: John Wiley. 1989; p 361-374.
87. Sheweita SA, Tilmisany AK. Cancer and phase II drug-metabolizing enzymes. Curr. Drug Metab. 2003; 4 (1): 45-58.
88. Chasseaud LF. The role of glutathione and glutathione S-transferases in the metabolism of chemical carcinogens and other electrophilic agents. Adv. Cancer Res. 1979; 29: 175-274.
89. Ketterer B, Harris JM, Talaska G, Meyer DJ, P361-374. The human glutathione S-transferase supergene family, its polymorphism, and its effect on susceptibility to lung cancer. Environ. Hlth. Perspect. 1992; 98: 87-94.
90. Hayes JD, Pulford DJ. The glutathione-Stransferase supergene family: regulation of GST and the contribution of isoenzyme to cancer chemoprotection and drug resistance. Crit. Rev. Biochem. Mol. Biol. 1995; 30: 445-600.
91. Seidegård J, Vorachek WR, Pero RW, Pearson WR. Hereditary differences in the expression of the human glutathione transferase active on trans-stilbene oxide are due to a gene deletion. Proc. Natl. Acad. Sci. USA. 1988; 85: 7293-7297.
92. Hou SM, Ryberg D, Falt S, Deverill A, et al. GSTM1 and NAT2 polymorphisms in operable and non-operable lung cancer patients. Carcinog. 2000; 21: 49-54.
93. D'Errico A, Taioli E, Chen X, Vineis P. Genetic metabolic polymorphisms and the risk of cancer: a review of the literature. Biomark. 1996; 1: 149-173.
94. Perera FP. Environment and cancer: who are susceptible? Scie. 1997; 278: 1068-1073.
95. Rojas M, Cascorbi I, Alexandrov K, Kriek E, et al. Modulation of benzo(a)pyrene diolepoxide-DNA adduct levels in human white blood cells by CYP1A1, GSTM1 and GSTT1 polymorphism. Carcinogen. 2000; 21: 35-41.
96. De Flora S, Izzotti A, Walsh D, Degan P, et al. Molecular epidemiology of atherosclerosis. FASEB J. 1997; 11: 1021-1031.
97. Binkova ́ B, Strejc P, Boulbelik O, Stávková Z, Chvátalová I, et al. DNA adducts and human atherosclerotic lesions. Homeostas. 1999; 39: 168-173.
98. Noiri E, Peresleni T, Srivastava N, Weber P, et al. Nitric oxide is necessary for a switch from stationary to locomoting phenotype in epithelial cells. Am. J. Physiol. 1996; 270: C794-C802.
99. Noiri E, Lee E, Testa J, Quigley J, et al. Podokinesis in endothelial cell migration: role of nitric oxide. Am. J. Physiol. 1998; 274 (1 Pt 1): C236-244.
100. Noiri E, Hu Y, Bahou WF, Keese CR, et al. Permissive role of nitric oxide in endothelin-induced migration of endothelial cells. J. Biol. Chem. 1997; 272 (3): 1747-1752.
101. Zollner S, Aberle S, Harvey SE, Polokoff MA, et al. Changes of endothelial nitric oxide synthase level and activity during endothelial cell proliferation. Endothelium. 2000; 7: 169-184.
102. Presley T, Vedam K, Druhan LJ, Ilangovan G. Hyperthermia-induced Hsp90{middle dot}eNOS Preserves Mitochondrial Respiration in Hyperglycemic Endothelial Cells by Down-regulating Glut-1 and Upregulating G6PD Activity. J. Biol. Chem. 2010; 285 (49): 38194-38203.
103. Tian WN, Braunstein LD, Pang J, Stuhlmeier KM, et al. Importance of glucose-6-phosphate dehydrogenase activity for cell growth. J. Biol. Chem. 1998; 273: 10609-10617.
104. Di Monaco M, Pizzini A, Gatto V, Leonardi L, et al. Role of glucose-6-phosphate dehydrogenase inhibition in the antiproliferative effects of dehydroepiandrosterone on human breast cancer cells. Br. J. Cancer. 1997; 75: 589-592.
105. Kuo WY, Tang TK. Effects of G6PD overexpression in NIH3T3 cells treated with tert-butyl hydroperoxide or paraquat. Free Radic. Biol. Med. 1997; 24: 1130-1138.
106. Leopold JA, Walker J, Scribner AW, Voetsch B, et al. Glucose-6-phosphate Dehydrogenase Modulates Vascular Endothelial Growth Factormediated Angiogenesis. J. Biol. Chem. 2003; 278 (34): 32100-32106.
107. Tsai KJ, Hung IJ, Chow CK, Stern A, et al. Impaired production of nitric oxide, superoxide, and hydrogen peroxide in glucose 6-phosphate-dehydrogenase-deficient granulocytes. FEBS Lett. 1998; 436: 411-414.
108. Leopold JA, Loscalzo J. Oxidative risk for atherothrombotic cardiovascular disease. Free Radic Biol. Med. 2009; 47 (12): 1673-1706.
109. Welch GN, Loscalzo J. Homocysteine and atherothrombosis. N. Engl. J. Med. 1998; 338: 1042-1050.
110. Selhub J, Jacques PF, Wilson PW, Rush D, et al. Vitamin status and intake as primary determinants of homocysteinemia in an elderly population. JAMA. 1993; 270: 2693-2698.
111. Kang SS, Zhou J, Wong PW, Kowalisyn J, et al. Intermediate homocysteinemia, a thermolabile variant of methylenetetrahydrofolate reductase. Am. J. Hum. Genet. 1988; 43: 414-421.
112. Fletcher O, Kessling AM. MTHFR association with arteriosclerotic vascular disease? Hum. Genet. 1998; 103: 11-21.
113. Kelly PJ, Rosand J, Kistler JP, Shih VE, et al. Homocysteine, MTHFR 677C3T polymorphism, and risk of ischemic stroke: results of a metaanalysis. Neurol. 2002; 59: 529-536.
114. Jacques PF, Bostom AG, Williams RR, Ellison RC, et al. Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulat. 1996; 93: 7-9.
115. Ma J, Stampfer MJ, Hennekens CH, Frosst P, et al. Methylenetetrahydrofolate reductase polymorphism, plasma folate, homocysteine, and risk of myocardial infarction in US physicians. Circulat. 1996; 94: 2410-2416.
116. Weisberg I, Tran P, Christensen B, Sibani S, et al. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol. Genet. Metab. 1998; 64: 169-172.
117. Weisberg IS, Jacques PF, Selhub J, Bostom AG, et al. The 1298A3C polymorphism in methylenetetrahydrofolate reductase (MTHFR): in vitro expression and association with homocysteine. Atheroscler. 2001; 156: 409-415.
118. Ogino S, Wilson RB. Genotype and haplotype distributions of MTHFR677C3T and 1298A3C single nucleotide polymorphisms: a metaanalysis. J. Hum. Genet. 2003; 48: 1-7.
119. Folsom AR. Hemostatic risk factors for atherothrombotic disease: an epidemiologic view. Thromb. Haemost. 2001; 86: 366-373.
120. Collet JP, Soria J, Mirshahi M, Hirsch M, et al. Dusart syndrome: a new concept of the relationship between fibrin clot architecture and fibrin clot degradability: hypofibrinolysis related to an abnormal clot structure. Blood. 1993; 82: 2462-2469.
121. Sakkinen PA, Wahl P, Cushman M, Lewis MR, et al. Clustering of procoagulation, inflammation, and fibrinolysis variables with metabolic factors in insulin resistance syndrome. Am. J. Epidemiol. 2000; 152: 897-907.
122. Brown ET, Fuller GM. Detection of a complex that associates with the B_ fibrinogen G-455-A polymorphism. Blood. 1998; 92: 3286-3293.
123. Hamsten A. Two common., functional polymorphisms in the promoter region of the fibrinogen gene contribute to regulation of plasma fibrinogen concentration. Arterioscler. Thromb. Vasc. Biol. 1999; 19: 3063-3070.
124. Behague I, Poirier O, Nicaud V, Evans A, et al. Fibrinogen gene polymorphisms are associated with plasma fibrinogen and coronary artery disease in patients with myocardial infarction: The ECTIM Study. Etude Cas-Temoins sur l'Infarctus du Myocarde. Circul. 1996; 93: 440-449.
125. Endler G, Mannhalter C. Polymorphisms in coagulation factor genes and their impact on arterial and venous thrombosis. Clin. Chim. Acta. 2003; 330: 31-55.
126. Boekholdt SM, Bijsterveld NR, Moons AH, Levi M, et al. Genetic variation in coagulation and fibrinolytic proteins and their relation with acute myocardial infarction: a systematic review. Circulation. 2001; 104: 3063-3068.
127. de Maat MP, Kastelein JJ, Jukema JW, Zwinderman AH, et al. 455G/Apolymorphism of the-fibrinogen gene is associated with the progression of coronary atherosclerosis in symptomatic men: proposed role for an acute-phase reaction pattern of fibrinogen. REGRESS group. Arterioscler Thromb. Vasc. Biol. 1998; 18: 265-271.
128. Martiskainen M, Pohjasvaara T, Mikkelsson J, Mantyla R, et al. Fibrinogen gene promoter 455 A allele as a risk factor for lacunar stroke. Stroke. 2003; 34: 886-891.
129. Baumann RE, Henschen AH. Human fibrinogen polymorphic site analysis by restriction endonuclease digestion and allele-specific polymerase chain reaction amplification, identification of polymorphisms at positions A-312 and B-448. Blood. 1993; 82: 2117-2124.
130. Standeven KF, Grant PJ, Carter AM, Scheiner T, et al. Functional analysis of the fibrinogen Thr312Ala polymorphism: effects on fibrin structure and function. Circul. 2003; 107: 2326-2330.
131. Carter AM, Catto AJ, Grant PJ. Association of the-fibrinogen Thr312Ala polymorphism with poststroke mortality in subjects with atrial fibrillation. Circul. 1999; 99: 2423-2426.
132. Curran JM, Evans A, Arveiler D, Luc G, et al. The fibrinogen T/A312 polymorphism in the ECTIM study. Thromb. Haemost. 1998; 79: 1057-1058.
133. Carter AM, Catto AJ, Kohler HP, Ariens RA, et al. Fibrinogen Thr312Ala polymorphism and venous thromboembolism. Blood. 2000; 96: 1177-1179.