A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia

Journal of Molecular and Cellular Cardiology

Volumn 51, Issue 5, 2011, Pages 848-854

  Kelly, Matthew ^a,b   Bagnall, Richard D ^a   Peverill, Roger E ^c   Donelan, Lesley ^c   Corben, Louise ^d   Delatycki, Martin B ^d,e   Semsarian, Christopher ^a,d,f  

^a CENTENARY INSTITUTE   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c MONASH UNIVERSITY   (Australia)

^d MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^e AUSTIN HEALTH   (Australia)

^f ROYAL PRINCE ALFRED HOSPITAL   (Australia)

Author keywords

Cardiac function and structure; Friedreich ataxia; Genes; MicroRNA; Renin Angiotensin Aldosterone system

Indexed keywords

ANGIOTENSIN 1 RECEPTOR; GENOMIC DNA; MICRORNA; MICRORNA 155; UNCLASSIFIED DRUG;

ADULT; AGE; ANGIOTENSIN CONVERTING ENZYME 2 GENE; ANGIOTENSIN CONVERTING ENZYME GENE; ANGIOTENSIN II TYPE 1 RECEPTOR GENE; ARTICLE; AUSTRALIA; BINDING SITE; BODY SURFACE; CARDIOVASCULAR PARAMETERS; COHORT ANALYSIS; CONTROLLED STUDY; DIASTOLE; DIASTOLIC BLOOD PRESSURE; DISEASE ASSOCIATION; FEMALE; FRIEDREICH ATAXIA; GENE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HAPLOTYPE; HEART HYPERTROPHY; HEART LEFT VENTRICLE MASS; HEART LEFT VENTRICLE SIZE; HUMAN; INTRAVENTRICULAR SEPTAL WALL THICKNESS; MAJOR CLINICAL STUDY; MALE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RENIN ANGIOTENSIN ALDOSTERONE SYSTEM; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSTHORACIC ECHOCARDIOGRAPHY; TRINUCLEOTIDE REPEAT;

ADOLESCENT; ADULT; ALLELES; AUSTRALIA; BINDING SITES; BLOOD PRESSURE; CASE-CONTROL STUDIES; COHORT STUDIES; FEMALE; FRIEDREICH ATAXIA; GENOTYPE; HAPLOTYPES; HEART VENTRICLES; HOMOZYGOTE; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; IRON-BINDING PROTEINS; MALE; MICRORNAS; MITOCHONDRIA; PEPTIDYL-DIPEPTIDASE A; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR, ANGIOTENSIN, TYPE 1; RENIN-ANGIOTENSIN SYSTEM; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 80053234592     PISSN: 00222828     EISSN: 10958584     Source Type: Journal    
DOI: 10.1016/j.yjmcc.2011.07.001     Document Type: Article

References (56)

1. Cossee M., Schmitt M., Campuzano V., Reutenauer L., Moutou C., Mandel J.L., et al. Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci USA 1997, 94(14):7452-7457.
2. Campuzano V., Montermini L., Molto M.D., Pianese L., Cossee M., Cavalcanti F., et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996, 271(5254):1423-1427.
3. Durr A., Cossee M., Agid Y., Campuzano V., Mignard C., Penet C., et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996, 335(16):1169-1175.
4. Epplen C., Epplen J.T., Frank G., Miterski B., Santos E.J., Schols L. Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene. Hum Genet 1997, 99(6):834-836.
5. Wong A., Yang J., Cavadini P., Gellera C., Lonnerdal B., Taroni F., et al. The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis. Hum Mol Genet 1999, 8(3):425-430.
6. Bit-Avragim N., Perrot A., Schols L., Hardt C., Kreuz F.R., Zuhlke C., et al. The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia. J Mol Med 2001, 78(11):626-632.
7. Dutka D.P., Donnelly J.E., Nihoyannopoulos P., Oakley C.M., Nunez D.J. Marked variation in the cardiomyopathy associated with Friedreich's ataxia. Heart 1999, 81(2):141-147.
8. Dutka D.P., Donnelly J.E., Palka P., Lange A., Nunez D.J., Nihoyannopoulos P. Echocardiographic characterization of cardiomyopathy in Friedreich's ataxia with tissue Doppler echocardiographically derived myocardial velocity gradients. Circulation 2000, 102(11):1276-1282.
9. Isnard R., Kalotka H., Durr A., Cossee M., Schmitt M., Pousset F., et al. Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia. Circulation 1997, 95(9):2247-2249.
10. Lagedrost S.J., Sutton M.S., Cohen M.S., Satou G.M., Kaufman B.D., Perlman S.L., et al. Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA). Am Heart J 2011, 161(3):639-645. e1.
11. Meyer C., Schmid G., Gorlitz S., Ernst M., Wilkens C., Wilhelms I., et al. Cardiomyopathy in Friedreich's ataxia-assessment by cardiac MRI. Mov Disord 2007, 22(11):1615-1622.
12. Mottram PM, Delatycki MB, Donelan L, Gelman JS, Corben L, Peverill RE. Early changes in left ventricular long-axis function in Friedreich ataxia: Relation with the FXN gene mutation and cardiac structural change. JASE 2011;24(7):782-9.
13. Rajagopalan B., Francis J.M., Cooke F., Korlipara L.V., Blamire A.M., Schapira A.H., et al. Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia. Mov Disord 2010, 25(7):846-852.
14. Casazza F., Morpurgo M. The varying evolution of Friedreich's ataxia cardiomyopathy. Am J Cardiol 1996, 77(10):895-898.
15. Child J.S., Perloff J.K., Bach P.M., Wolfe A.D., Perlman S., Kark R.A. Cardiac involvement in Friedreich's ataxia: a clinical study of 75 patients. J Am Coll Cardiol 1986, 7(6):1370-1378.
16. De Michele G., Perrone F., Filla A., Mirante E., Giordano M., De Placido S., et al. Age of onset, sex, and cardiomyopathy as predictors of disability and survival in Friedreich's disease: a retrospective study on 119 patients. Neurology 1996, 47(5):1260-1264.
17. Hewer R.L. Study of fatal cases of Friedreich's ataxia. Br Med J 1968, 3(5619):649-652.
18. Kelly M., Semsarian C. Multiple mutations in genetic cardiovascular disease: a marker of disease severity?. Circ Cardiovasc Genet 2009, 2:182-190.
19. Filla A., De Michele G., Cavalcanti F., Pianese L., Monticelli A., Campanella G., et al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 1996, 59(3):554-560.
20. Monros E., Molto M.D., Martinez F., Canizares J., Blanca J., Vilchez J.J., et al. Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. Am J Hum Genet 1997, 61(1):101-110.
21. Lamont P.J., Davis M.B., Wood N.W. Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates. Brain 1997, 120(Pt 4):673-680.
22. Montermini L., Richter A., Morgan K., Justice C.M., Julien D., Castellotti B., et al. Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol 1997, 41(5):675-682.
23. Paul M., Poyan Mehr A., Kreutz R. Physiology of local renin-angiotensin systems. Physiol Rev 2006, 86(3):747-803.
24. Marian A.J. Modifier genes for hypertrophic cardiomyopathy. Curr Opin Cardiol 2002, 17(3):242-252.
25. Burrell L.M., Johnston C.I., Tikellis C., Cooper M.E. ACE2, a new regulator of the renin-angiotensin system. Trends Endocrinol Metab 2004, 15(4):166-169.
26. Kaufman B.D., 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(5):515-523.
27. Ortlepp J.R., Vosberg H.P., Reith S., Ohme F., Mahon N.G., 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(3):270-275.
28. Perkins M.J., Van Driest S.L., Ellsworth E.G., Will M.L., Gersh B.J., Ommen S.R., 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(22):2457-2462.
29. Lang R.M., Bierig M., Devereux R.B., Flachskampf F.A., Foster E., Pellikka P.A., et al. Recommendations for chamber quantification: a report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology. J Am Soc Echocardiogr 2005, 18(12):1440-1463.
30. Sahn D.J., DeMaria A., Kisslo J., Weyman A. Recommendations regarding quantitation in M-mode echocardiography: results of a survey of echocardiographic measurements. Circulation 1978, 58(6):1072-1083.
31. Devereux R.B., Alonso D.R., Lutas E.M., Gottlieb G.J., Campo E., Sachs I., et al. Echocardiographic assessment of left ventricular hypertrophy: comparison to necropsy findings. Am J Cardiol 1986, 57(6):450-458.
32. Chiu C., Tebo M., Ingles J., Yeates L., Arthur J.W., Lind J.M., et al. Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. J Mol Cell Cardiol 2007, 43(3):337-343.
33. Delatycki M.B., Paris D.B., Gardner R.J., Nicholson G.A., Nassif N., Storey E., et al. Clinical and genetic study of Friedreich ataxia in an Australian population. Am J Med Genet 1999, 87(2):168-174.
34. The International HapMap Project. Nature 2003, 426(6968):789-796.
35. Barrett J.C., Fry B., Maller J., Daly M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21(2):263-265.
36. de Bakker P.I., Yelensky R., Pe'er I., Gabriel S.B., Daly M.J., Altshuler D. Efficiency and power in genetic association studies. Nat Genet 2005, 37(11):1217-1223.
37. Cameron V.A., Mocatta T.J., Pilbrow A.P., Frampton C.M., Troughton R.W., Richards A.M., et al. Angiotensin type-1 receptor A1166C gene polymorphism correlates with oxidative stress levels in human heart failure. Hypertension 2006, 47(6):1155-1161.
38. Nalogowska-Glosnicka K., Lacka B.I., Zychma M.J., Grzeszczak W., Zukowska-Szczechowska E., Poreba R., et al. Angiotensin II type 1 receptor gene A1166C polymorphism is associated with the increased risk of pregnancy-induced hypertension. Med Sci Monit 2000, 6(3):523-529.
39. Osterop A.P., Kofflard M.J., Sandkuijl L.A., ten Cate F.J., Krams R., Schalekamp M.A., et al. AT1 receptor A/C1166 polymorphism contributes to cardiac hypertrophy in subjects with hypertrophic cardiomyopathy. Hypertension 1998, 32(5):825-830.
40. Tiret L., Bonnardeaux A., Poirier O., Ricard S., Marques-Vidal P., Evans A., et al. Synergistic effects of angiotensin-converting enzyme and angiotensin-II type 1 receptor gene polymorphisms on risk of myocardial infarction. Lancet 1994, 344(8927):910-913.
41. Wang W.Y., Zee R.Y., Morris B.J. Association of angiotensin II type 1 receptor gene polymorphism with essential hypertension. Clin Genet 1997, 51(1):31-34.
42. Wu C.K., Tsai C.T., Chang Y.C., Luo J.L., Wang Y.C., Hwang J.J., et al. Genetic polymorphisms of the angiotensin II type 1 receptor gene and diastolic heart failure. J Hypertens 2009, 27(3):502-507.
43. Doolan G., Nguyen L., Chung J., Ingles J., Semsarian C. Progression of left ventricular hypertrophy and the angiotensin-converting enzyme gene polymorphism in hypertrophic cardiomyopathy. Int J Cardiol 2004, 96(2):157-163.
44. Hammond I.W., Devereux R.B., Alderman M.H., Laragh J.H. Relation of blood pressure and body build to left ventricular mass in normotensive and hypertensive employed adults. J Am Coll Cardiol 1988, 12(4):996-1004.
45. Lorenz C.H., Walker E.S., Morgan V.L., Klein S.S., Graham T.P. Normal human right and left ventricular mass, systolic function, and gender differences by cine magnetic resonance imaging. J Cardiovasc Magn Reson 1999, 1(1):7-21.
46. Nicodemus K.K., Liu W., Chase G.A., Tsai Y.Y., Fallin M.D. Comparison of type I error for multiple test corrections in large single-nucleotide polymorphism studies using principal components versus haplotype blocking algorithms. BMC Genet 2005, 6(Suppl 1):S78.
47. Gabriel S.B., Schaffner S.F., Nguyen H., Moore J.M., Roy J., Blumenstiel B., et al. The structure of haplotype blocks in the human genome. Science 2002, 296(5576):2225-2229.
48. Ganau A., Devereux R.B., Roman M.J., de Simone G., Pickering T.G., Saba P.S., et al. Patterns of left ventricular hypertrophy and geometric remodeling in essential hypertension. J Am Coll Cardiol 1992, 19(7):1550-1558.
49. Delatycki M.B., Williamson R., Forrest S.M. Friedreich ataxia: an overview. J Med Genet 2000, 37(1):1-8.
50. Martin M.M., Buckenberger J.A., Jiang J., Malana G.E., Nuovo G.J., Chotani M., et al. The human angiotensin II type 1 receptor +1166 A/C polymorphism attenuates microrna-155 binding. J Biol Chem 2007, 282(33):24262-24269.
51. Sethupathy P., Borel C., Gagnebin M., Grant G.R., Deutsch S., Elton T.S., et al. Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes. Am J Hum Genet 2007, 81(2):405-413.
52. McEwan P.E., Gray G.A., Sherry L., Webb D.J., Kenyon C.J. Differential effects of angiotensin II on cardiac cell proliferation and intramyocardial perivascular fibrosis in vivo. Circulation 1998, 98(24):2765-2773.
53. Ramires F.J., Sun Y., Weber K.T. Myocardial fibrosis associated with aldosterone or angiotensin II administration: attenuation by calcium channel blockade. J Mol Cell Cardiol 1998, 30(3):475-483.
54. Delatycki M.B. Evaluating the progression of Friedreich ataxia and its treatment. J Neurol 2009, 256(Suppl 1):36-41.
55. Schulz J.B., Boesch S., Burk K., Durr A., Giunti P., Mariotti C., et al. Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol 2009, 5(4):222-234.
56. Myerson S.G., Montgomery H.E., World M.J., Pennell D.J. Left ventricular mass: reliability of M-mode and 2-dimensional echocardiographic formulas. Hypertension 2002, 40(5):673-678.