Genetic Polymorphisms and Cardiac Failure

1. Marcelis C , Doevendans PA , Bonne G : Dilated cardiomyopathy, in Doevendans PA , Wilde AA (eds): Cardiovascular Genetics for Clincians. Dordrecht, The Netherlands, Kluwer Academic Publishers, 2001, pp 155-168.

2. Doevendans PA , Wilde AA : Cardiovascular Genetics for Clinicians, Dordrecht, The Netherlands, Kluwer Academic Publishers, 2001.

3. Dassen WR , Spiering W , de Leeuw P , Smits P , et al: Unravelling gene interactions to find the cause of atherosclerosis, a multigenic disease, using an artificial network. CIC 28:373-376, 2001.

4. Hingorani AD : Polymorphisms in endothelial nitric oxide synthase and atherogenesis: John French Lecture 2000. Atherosclerosis 154:521-527, 2001.

5. Jachymova M , Horky K , Bultas J , et al: Association of the Glu298Asp polymorphism in the endothelial nitric oxide synthase gene with essential hypertension resistant to conventional therapy. Biochem Biophys Res Commun 284:426-430, 2001.

6. Guzik TJ , Black E , West NE , et al: Relationship between the G894T polymorphism (Glu298Asp variant) in endothelial nitric oxide synthase and nitric oxide-mediated endothelial function in human atherosclerosis. Am J Med Genet 100:130-137, 2001.

7. Hibi K , Ishigami T , Tamura K , et al: Endothelial nitric oxide synthase gene polymorphism and acute myocardial infarction. Hypertension 32:521-526, 1998.

8. Jongbloed RJE , Marcelis C , Velter C , et al: DHPLC analysis of potassium ion channel genes in congenital Long QT syndrome. Hum Mutat 20(5):382-389, 2002.

9. Sylvius N , Tesson F , Gayet C , et al: A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6ql2-ql6. Am J Hum Genet 68:241-246, 2001.

10. Siu BL , Niimura H , Osborne JA , et al: Familial dilated cardiomyopathy locus maps to chromosome 2q31. Circulation 99:1022-1026, 1999.

11. Krajinovic M , Pinamonti B , Sinagra G , et al: Linkage of familial dilated cardiomyopathy to chromosome 9. Heart Muscle Disease Study Group. Am J Hum Genet 57:846-852, 1995.

12. Durand JB , Bachinski LL , Bieling LC , et al: Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. Circulation 92:3387-3389, 1995.

13. Tesson F , Sylvius N , Pilotto A , et al: Epidemiology of desmin and cardiac actin gene mutations in a European population of dilated cardiomyopathy. Eur Heart J 21:1872-1876, 2000.

14. Li D , Tapscoft T , Gonzalez O , et al: Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation 100:461-464, 1999.

15. Goldfarb LG , Park KY , Cervenakova L , et al: Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet 19:402-403, 1998.

16. Tsubata S , Bowles KR , Vatta M , et al: Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest 106:655-662, 2000.

17. Kamisago M , Sharma SD , DePalma SR , et al: Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med 343:1688-1696, 2000.

18. Fatkin D , MacRae C , Sasaki T , et al: Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 341:1715-1724, 1999.

19. Muchir A , Bonne G , van der Kooi AJ , et al: Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 9:1453-1459, 2000.

20. Bonne G , Di Barletta MR , Varnous S , et al: Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 21:285-288, 1999.

21. Schwartz ML , Cox GF , Lin AE , et al: Clinical approach to genetic cardiomyopathy in children. Circulation 94:2021-2038, 1996.

22. Berko BA , Swift M . X-linked dilated cardiomyopathy. N Engl J Med 316:1186-1191, 1987.

23. Muntoni F , Cau M , Ganau A , et al: Brief report: Deletion of the dystrophin muscle-promoter region associated with Xlinked dilated cardiomyopathy. N Engl J Med 329:921-925, 1993.

24. Ferlini A , Sewry C , Melis MA , et al: X-linked dilated cardiomyopathy and the dystrophin gene. Neuromuscul Disord 9:339-346, 1999.

25. Franz WM , Muller M , Muller OJ , et al: Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy. Lancet 355:1781-1785, 2000.

26. Bione S , D'Adamo P , Maestrini E , et al: A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet 12:385-389, 1996.

27. Bione S , Maestrini E , Rivella S , et al: Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 8:323-327, 1994.

28. Andersson B , Sylven C . The DD genotype of the angiotensin-converting enzyme gene is associated with increased mortality in idiopathic heart failure. J Am Coll Cardiol 28:162-167, 1996.

29. Veldman BA , Spiering W , Doevendans PA , et al: The Glu298Asp polymorphism of the NOS 3 gene as a determinant of the baseline production of nitric oxide. J Hypertens 20:2023-2027, 2002.

30. Schafers RF , Nurnberger J , Rutz A , et al: Haemodynamic characterization of young normotensive men carrying the 825T-allele of the G-protein beta3 subunit. Pharmacogenetics 11:461-470, 2001.

31. Karvonen J , Kauma H , Kervinen K , et al: Endothelial nitric oxide synthase gene Glu298Asp polymorphism and blood pressure, left ventricular mass and carotid artery atherosclerosis in a population-based cohort. J Intern Med 251:102-110, 2002.

32. Tiret L , Mallet C , Poirier O , et al: Lack of association be-tween polymorphisms of eight candidate genes and idiopathic dilated cardiomyopathy: The CARDIGENE study. J Am Coll Cardiol 35:29-35, 2000.

33. Small KM , Wagoner LE , Levin AM , et al: Synergistic polymorphisms of betaland alpha2C-adrenergic receptors and the risk of congestive heart failure. N Engl J Med 347:1135-1142, 2002.

34. Suzuki M , Carlson KM , Marchuk DA , et al: Genetic modifier loci affecting survival and cardiac function in murine dilated cardiomyopathy. Circulation 105:1824-1829, 2002.

35. Yamada Y , Ichihara S , Izawa H , et al: Association of a G994 -*T (Val279 -Phe) polymorphism of the plasma plateletactivating factor acetylhydrolase gene with myocardial damage in Japanese patients with nonfamilial hypertrophic cardiomyopathy. J Hum Genet 46:436-441, 2001.

36. Port JD , Bristow MR : Altered beta-adrenergic receptor gene regulation and signaling in chronic heart failure. J Mol Cell Cardiol 33:887-905, 2001.

37. Winnicki M , Somers VK , Accurso V , et al: Alpha-Adducin Gly46OTrp polymorphism, left ventricular mass and plasma renin activity. J Hypertens 20:1771-1777, 2002.

38. Tang W , Devereux RB , Rao DC , et al: Associations between angiotensinogen gene variants and left ventricular mass and function in the HyperGEN study. Am Heart J 143:854-860, 2002.

39. Hallberg P , Karlsson J , Kurland L , et al: The CYP2C9 genotype predicts the blood pressure response to irbesartan: Results from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation vs Atenolol (SILVHIA) trial. J Hypertens 20:2089-2093, 2002.

40. Tiago AD , Badenhorst D , Skudicky D , et al: An aldosterone synthase gene variant is associated with improvement in left ventricular ejection fraction in dilated cardiomyopathy. Cardiovasc Res 54:584-589, 2002.

41. Nigro V , de Sa ME , Piluso G , et al: Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet 14:195-198, 1996

42. Messina DN , Speer MC , Pericak-Vance MA , et al: Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet 61:909-917, 1997.

43. Jung M , Poepping I , Perrot A , et al: Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2ql4-q22. Am J Hum Genet 65:1068-1077, 1999.

44. Olson TM , Keating MT . Mapping a cardiomyopathy locus to chromosome 3p22-p25. J Clin Invest 97:528-532, 1996.

45. Bowles KR , Gajarski R , Porter P , et al: Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23. J Clin Invest 98:1355-1360, 1996.

46. Schonberger J , Levy H , Grunig E , et al: Dilated cardiomyopathy and sensorineural hearing loss: A heritable syndrome that maps to 6q23-24. Circulation 101:1812-1818, 2000.

47. Vigouroux C , Magre J , Vantyghem MC , et al: Lamin A/C gene: Sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy. Diabetes 49:1958-1962, 2000.

48. Lim LE , Duclos F , Broux O , et al: Beta-sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 11:257-265, 1995.