Genetic variation in angiotensin II type 2 receptor gene influences extent of left ventricular hypertrophy in hypertrophic cardiomyopathy independent of blood pressure

JRAAS - Journal of the Renin-Angiotensin-Aldosterone System

Volumn 12, Issue 3, 2011, Pages 274-280

  Carstens, Nadia ^a   Van Der Merwe, Lize ^b,c   Revera, Miriam ^d   Heradien, Marshall ^e   Goosen, Althea ^e   Brink, Paul A ^e   Moolman Smook, Johanna C ^a  

^a STELLENBOSCH UNIVERSITY   (South Africa)

^b SOUTH AFRICAN MEDICAL RESEARCH COUNCIL   (South Africa)

^c UNIVERSITY OF THE WESTERN CAPE   (South Africa)

^d FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^e UNIVERSITY OF STELLENBOSCH   (South Africa)

Author keywords

Angiotensin II type 2 receptor; cardiac hypertrophy; hypertrophic cardiomyopathy; renin angiotensin aldosterone system

Indexed keywords

ALANINE; ANGIOTENSIN 2 RECEPTOR; GLYCINE;

3' UNTRANSLATED REGION; ADULT; ALLELE; ARTICLE; BLOOD PRESSURE; FEMALE; GENETIC MARKER; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOTYPE; HEART VENTRICLE HYPERTROPHY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MALE; SINGLE NUCLEOTIDE POLYMORPHISM; THICKNESS;

ADULT; BLOOD PRESSURE; CARDIOMYOPATHY, HYPERTROPHIC; COHORT STUDIES; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HEART VENTRICLES; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PRINCIPAL COMPONENT ANALYSIS; RECEPTOR, ANGIOTENSIN, TYPE 2;

EID: 80052379858     PISSN: 14703203     EISSN: 17528976     Source Type: Journal    
DOI: 10.1177/1470320310390725     Document Type: Article

References (32)

1. Watkins H., Seidman JG and Seidman CE Familial hypertrophic cardiomyopathy: a genetic model of cardiac hypertrophy. Hum Mol Genet 1995 ; 4 (Spec No): 1721-1727.
2. Alcalai R., Seidman JG and Seidman CE Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics. J Cardiovasc Electrophysiol 2008 ; 19: 104-110.
3. Revera M., van der Merwe L., Heradien M., GoosenA, Corfield VA, Brink PA, et al. Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy. Cardiovasc Res 2008 ; 77: 687-694. (Pubitemid 351301858)
4. Fananapazir L. and Epstein ND Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations. Circulation 1994 ; 89: 22-32. (Pubitemid 24026467)
5. Posen BM, Moolman JC, Corfield VA and Brink PA Clinical and prognostic evaluation of familial hypertrophic cardiomyopathy in two South African families with different cardiac beta myosin heavy chain gene mutations. Br Heart J 1995 ; 74: 40-46.
6. Semsarian C., Healey MJ, Fatkin D., Giewat M., Duffy C., Seidman CE, et al. A polymorphic modifier gene alters the hypertrophic response in a murine model of familial hypertrophic cardiomyopathy. J Mol Cell Cardiol 2001 ; 33: 2055-2060. (Pubitemid 33097283)
7. Kaufman BD, Auerbach S., Reddy S., Manlhiot C., Deng L., Prakash A., et al. RAAS gene polymorphisms influence progression of pediatric hypertrophic cardiomyopathy. Hum Genet 2007 ; 122: 515-523. (Pubitemid 350148963)
8. Ortlepp JR, Vosberg HP, Reith S., Ohme F., Mahon NG, Schroder D., et al. Genetic polymorphisms in the renin- angiotensin-aldosterone system associated with expression of left ventricular hypertrophy in hypertrophic cardiomyopathy: a study of five polymorphic genes in a family with a disease-causing mutation in the myosin binding protein C gene. Heart 2002 ; 87: 270-275. (Pubitemid 34177686)
9. Perkins MJ, Van Driest SL, Ellsworth EG, Will ML, Gersh BJ, Ommen SR, et al. Gene-specific modifying effects of pro-LVH polymorphisms involving the renin- angiotensin-aldosterone system among 389 unrelated patients with hypertrophic cardiomyopathy. Eur Heart J 2005 ; 26: 2457-2462. (Pubitemid 41552976)
10. Hoffmann S., Krause T., van Geel PP, Willenbrock R., Pagel I., Pinto YM, et al. Overexpression of the human angiotensin II type 1 receptor in the rat heart augments load induced cardiac hypertrophy. J Mol Med 2001 ; 79: 601-608. (Pubitemid 32938389)
11. Dahlof B., Devereux RB, Kjeldsen SE, Julius S., Beevers G., de Faire U., et al. Cardiovascular morbidity and mortality in the Losartan Intervention For Endpoint reduction in hypertension study (LIFE): a randomised trial against atenolol. Lancet 2002 ; 359: 995-1003. (Pubitemid 34286536)
12. Okin PM, Devereux RB, Jern S., Kjeldsen SE, Julius S., Nieminen MS, et al. Regression of electrocardiographic left ventricular hypertrophy by losartan versus atenolol: The Losartan Intervention for Endpoint reduction in Hypertension (LIFE) Study. Circulation 2003 ; 108: 684-690. (Pubitemid 36999252)
13. Bartunek J., Weinberg EO, Tajima M., Rohrbach S. and Lorell BH Angiotensin II type 2 receptor blockade amplifies the early signals of cardiac growth response to angiotensin II in hypertrophied hearts. Circulation 1999 ; 99: 22-25. (Pubitemid 29035952)
14. Mukawa H., Toki Y., Miyazaki Y., Matsui H., Okumura K. and Ito T. Angiotensin II type 2 receptor blockade partially negates antihypertrophic effects of type 1 receptor blockade on pressure-overload rat cardiac hypertrophy. Hypertens Res 2003 ; 26: 89-95. (Pubitemid 36193103)
15. Alfakih K., Maqbool A., Sivananthan M., Walters K., Bainbridge G., Ridgway J., et al. Left ventricle mass index and the common, functional, X-linked angiotensin II type-2 receptor gene polymorphism (-1332 G/A) in patients with systemic hypertension. Hypertension 2004 ; 43: 1189-1194. (Pubitemid 38691739)
16. Schmieder RE, Erdmann J., Delles C., Jacobi J., Fleck E., Hilgers K., et al. Effect of the angiotensin II type 2-receptor gene (+1675 G/A) on left ventricular structure in humans. J Am Coll Cardiol 2001 ; 37: 175-182. (Pubitemid 32051735)
17. Herrmann SM, Nicaud V., Schmidt-Petersen K., Pfeifer J., Erdmann J., McDonagh T., et al. Angiotensin II type 2 receptor gene polymorphism and cardiovascular phenotypes: the GLAECO and GLAOLD studies. Eur J Heart Fail 2002 ; 4: 707-712.
18. Balmforth AJ Angiotensin II type 2 receptor gene polymorphisms in cardiovascular disease. J Renin Angiotensin Aldosterone Syst 2010 ; 11: 79-85.
19. Deinum J., van Gool JM, Kofflard MJ, ten Cate FJ and Danser AH Angiotensin II type 2 receptors and cardiac hypertrophy in women with hypertrophic cardiomyopathy. Hypertension 2001 ; 38: 1278-1281. (Pubitemid 34033402)
20. Moolman-Smook JC, De Lange WJ, Bruwer EC, Brink PA and Corfield VA The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events. Am J Hum Genet 1999 ; 65: 1308-1320. (Pubitemid 30460381)
21. Schiller NB, Shah PM, Crawford M., DeMaria A., Devereux R., Feigenbaum H., et al. Recommendations for quantitation of the left ventricle by two-dimensional echocardiography. American Society of Echocardiography Committee on Standards, Subcommittee on Quantitation of Two-Dimensional Echocardiograms. J Am Soc Echocardiogr 1989 ; 2: 358-367.
22. Wigginton JE and Abecasis GR PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data. Bioinformatics 2005 ; 21: 3445-3447. (Pubitemid 41222458)
23. Barrett JC, Fry B., Maller J. and Daly MJ Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005 ; 21: 263-265. (Pubitemid 40202029)
24. Pilia G., Chen WM, Scuteri A., Orru M., Albai G., Dei M., et al. Heritability of cardiovascular and personality traits in 6,148 Sardinians. Plos Genetics 2006 ; 2: 1207-1223. (Pubitemid 44298495)
25. Abecasis GR, Cardon LR and Cookson WO A general test of association for quantitative traits in nuclear families. Am J Hum Genet 2000 ; 66: 279-292. (Pubitemid 30481489)
26. Erdmann J., Guse M., Kallisch H., Fleck E. and Regitz-Zagrosek V. Novel intronic polymorphism (+1675G/A) in the human angiotensin II subtype 2 receptor gene. Hum Mutat 2000 ; 15: 487.
27. Nishimura H., Yerkes E., Hohenfellner K., Miyazaki Y., Ma J., Hunley TE, et al. Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men. Mol Cell 1999 ; 3: 1-10. (Pubitemid 29292472)
28. Warnecke C., Mugrauer P., Surder D., Erdmann J., Schubert C. and Regitz-Zagrosek V. Intronic ANG II type 2 receptor gene polymorphism 1675 G/A modulates receptor protein expression but not mRNA splicing. Am J Physiol Regul Integr Comp Physiol 2005 ; 289: R1729 - R1735. (Pubitemid 41643218)
29. Myerson SG, Montgomery HE, World MJ and Pennell DJ Left ventricular mass: reliability of M-mode and 2-dimensional echocardiographic formulas. Hypertension 2002 ; 40: 673-678. (Pubitemid 35278604)
30. Mayosi BM, Keavney B., Watkins H. and Farrall M. Measured haplotype analysis of the aldosterone synthase gene and heart size. Eur J Hum Genet 2003 ; 11: 395-401. (Pubitemid 36665300)
31. Van der Merwe L., Cloete R., Revera M., Heradien M., Goosen A., Corfield VA, et al. Genetic variation in angiotensin-converting enzyme 2 gene is associated with extent of left ventricular hypertrophy in hypertrophic cardiomyopathy. Hum Genet 2008 ; 124: 57-61.
32. Allison JD, Flickinger FW, Wright JC, Falls DG, III, Prisant LM, Von Dohlen TW, et al. Measurement of left ventricular mass in hypertrophic cardiomyopathy using MRI: comparison with echocardiography. Magn Reson Imaging 1993 ; 11: 329-334.