Genetic basis of cardiovascular disease — the renin-angiotensin-aldosterone system as a paradigm

Haas E. , Goldblatt H. Kinetic constants of the human renin and human angiotensinogen reaction . Circ Res 1968; 20:45-55.

Pickens PT , Bumpus FM , Lloyd AM et al. A polymorphism of the angiotensinogen gene associated with variation in blood pressure in a genetic isolate. Circulation 1994; 90:2207-12.

Kurtz TW , Simonet L. , Kabra PM , Wolfe S. , Chan L. , Hjelle BL Cosegregation of the renin allele of the spontaneously hypertensive rat with an increase in blood pressure. J Clin Invest 1990;85(4):1328-32.

Sun L. , McArdle S. , Chun M. , Wolff DW , Pettinger WA Cosegregation of the renin gene with an increase in mean arterial blood pressure in the F2 rats of SHR-WKY cross. Clin Exp Hypertens 1993;15(5):797-805.

Naftilan AJ , Williams R. , Burt D. et al. A lack of genetic linkage of renin gene restriction fragment length polymorphisms with human hypertension. Hypertension 1989;14(6):614-8.

Soubrier F. , Jeunemaitre X. , Rigat B. , Houot AM , Cambien F. , Corvol P. Similar frequencies of renin gene restriction fragment length polymorphisms in hypertensive and normotensive subjects. Hypertension 1990;16(6):712-7.

Germain S. , Bonnet F. , Philippe J. , Fuchs S. , Corvol P. , Pinet F. A novel distal enhancer confers chorionic expression on the human renin gene . J Biol Chem 1998;273(39):25292-300.

Kim HS , Krege JH , Kluckman KD et al. Genetic control of blood pressure and the angiotensinogen locus . Proc Natl Acad Sci USA 1995;92(7):2735-9.

Jeunemaitre X. , Soubrier F. , Kotelevtsev YV et al. Molecular basis of human hypertension: role of angiotensinogen. Cell 1992 Oct 2;71(1):169-80.

Iwai N. , Shimoike H. , Ohmichi N. , Kinoshita M. Angiotensinogen gene and blood pressure in the Japanese population . Hypertension 1995; 25:688-93.

Arngrimsson R. , Purandare S. , Connor M. et al. Angiotensinogen: a candidate gene involved in preeclampsia? Nat Genet 1993; 4:114-5.

Jeunemaitre X. , Inoue I. , Williams C. et al. Haplotypes of angiotensinogen in essential hypertension. American Journal of Human Genetics 1997; Jun; 60(6):1448-60.

Neel JV The genetics of diabetes mellitus. In Diabetes.Camerini .- Davalos R , Cole HS , editors. Academic. Press Inc., Orlando.Fl ; 1970;3-10.

Brand E. , Chatelain N. , Keavney B. et al. Evaluation of the angiotensinogen locus in human essential hypertension: a European study. Hypertension 1998 Mar;31(3):725-9.

HingoraniAD , Sharma P. , Jia H. , Hopper R. , Brown MJ Blood pressure and the M235T polymorphism of the angiotensinogen gene. Hypertension 1996 Nov;28(5):907-11.

Beige J. , Zilch O. , Hohenbleicher H. et al. Genetic variants of the renin-angiotensin system and ambulatory blood pressure in essential hypertension. Journal of Hypertension 1997;15(5): 503-8.

Caulfield M. , Lavender P. , Farrall M. et al. Linkage of the angiotensinogen gene to essential hypertension. N Engl J Med 1994 ;330(23):1629-33.

Rigat B. , Hubert C. , Alhenc-Gelas F. , Cambien F. , Corvol P. , Soubrier F. An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. J Clin Invest 1990;86(4): 1343-6.

Danser AH , Schalekamp MA , Bax WA et al. Angiotensin-converting enzyme in the human heart. Effect of the deletion/insertion polymorphism. Circulation 1995;92(6):1387-8. 20. Tiret L. , Rigat B. , Visvikis S. , Breda C. , Corvol P. , Soubrier F. An insertion/deletion polymorphism in the angiotensin I converting enzyme gene accounting for half the variance of serum enzyme levels. Am J Hum Genet 1992; 51:197-205.

Ueda S. , Elliott HL , Morton JJ , Connell JM Enhanced pressor response to angiotensin I in normotensive men with the deletion genotype (DD) for angiotensin-converting enzyme. Hypertension 1995;25(6):1266-9.

Buikema H. , Pinto YM , Rooks G. , Grandjean JG , Schunkert H. , van Gilst WH The deletion polymorphism of the angiotensin-converting enzyme gene is related to phenotypic differences in human arteries. Eur Heart J 1996;17(5):787-94.

Perticone F. , Ceravolo R. , Maio R. et al. Angiotensin-converting enzyme gene polymorphism is associated with endothelium-dependent vasodilation in never treated hypertensive patients. Hypertension 1998;31(4):900-5.

Cambien F. , Evans A. Angiotensin I converting enzyme gene polymorphism and coronary heart disease . Eur Heart J 1995; 16 Suppl K:13-22.

Ruiz J. , Blanche H. , Cohen N. et al. Insertion/deletion polymorphism of the angiotensin-converting enzyme gene is strongly associated with coronary heart disease in non-insulin-dependent diabetes mellitus. Proc Natl Acad Sci USA 1994; 91(9):3662-5.

Tiret L. , Blanc H. , Ruidavets JB et al. Gene polymorphisms of the renin-angiotensin system in relation to hypertension and parental history of myocardial infarction and stroke: the PEGASE study. Projet d'Etude des Genes de l'Hypertension Arterielle Severe a moderee Essentielle. J Hypertens 1998;16 (1):37-44.

Lindpaintner K. , Pfeffer MA , Kreutz R. et al. A prospective evaluation of an angiotensin-converting enzyme gene polymorphism and the risk of ischemic heart disease. N Engl J Med 1995 ;332(11):706-11.

Samani NJ , Thompson JR , O'Toole L. , Channer K. , Woods KL A meta-analysis of the association of the deletion allele of the angiotensin-converting enzyme gene with myocardial infarction. Circulation 1996;94(4):708-12.

Keavney B. , McKenzie C. , Parish S. et al. Large-scale test of hypothesised associations between the angiotensin-converting-enzyme insertion/deletion polymorphism and myocardial infarction in about 5000 cases and 6000 controls. International Studies of Infarct Survival (ISIS) Collaborators . Lancet 2000;355(9202):434-42.

Schunkert H. , Hense HW , Holmer SR et al. Association between a deletion polymorphism of the angiotensin-converting-enzyme gene and left ventricular hypertrophy . N Engl J Med 1994 ;330(23):1634-8.

Montgomery HE , Clarkson P. , Dollery CM et al. Association of angiotensin-converting enzyme gene I/D polymorphism with change in left ventricular mass in response to physical training. Circulation 1997;96(3):741-7.

Kupari M. , Perola M. , Koskinen P. , Virolainen J. , Karhunen PJ Left ventricular size, mass, and function in relation to angiotensin-converting enzyme gene polymorphism in humans. Am J Physiol 1994;267(3 Pt 2):H1107-H1111

Lindpaintner K. , Lee M. , Larson MG et al. Absence of association or genetic linkage between the angiotensin-converting-enzyme gene and left ventricular mass. NEnglJMed 1996;334 (16):1023-8.

Raynolds MV , Perryman MB The association between the angiotensin I converting enzyme gene polymorphism and cardiovascular disease. Coron Artery Dis 1995;6(4):302-9.

Busjahn A. , Voss A. , Knoblauch H. et al. Angiotensin-converting enzyme and angiotensinogen gene polymorphisms and heart rate variability in twins. Am J Cardiol 1998;81(6):755-60.

Hilbert P. , Lindpaintner K. , Beckmann JS et al. Chromosomal mapping of two genetic loci associated with blood-pressure regulation in hereditary hypertensive rats. Nature 1991;353(6344):521-9.

Higashimori K. , Zhao Y. , Higaki J. et al. Association analysis of a polymorphism of the angiotensin-converting enzyme gene with essential hypertension in the Japanese population. Biochem Biophys Res Commun 1993;191(2):399-404.

Jeunemaitre X. , Lifton RP , Hunt SC , Williams RR , Lalouel JM Absence of linkage between the angiotensin-converting enzyme locus and human essential hypertension . Nat Genet 1992;1(1):72-5.

Duru K. , Farrow S. , Wang JM , Lockette W. , Kurtz T. Frequency of a deletion polymorphism in the gene for angiotensin converting enzyme is increased in African-Americans with hypertension. Am J Hypertens 1994;7(8):759-62.

O'Donnell CJ , Lindpaintner K. , Larson MG et al. Evidence for association and genetic linkage of the angiotensin-converting enzyme locus with hypertension and blood pressure in men but not women in the Framingham Heart Study. Circulation 1998;97(18):1766-72.

Julier C. , Delepine M. , Keavney B. et al. Genetic susceptibility for human familial essential hypertension in a region of homology with blood pressure linkage on rat chromosome 10. Human Molecular Genetics 1997 Nov;6(12):2077-85.

Levy D. , DeStefano AL , Larson MG et al. Evidence for a gene influencing blood pressure on chromosome 17 : genome scan linkage results for longitudinal blood pressure phenotypes in subjects from the Framingham heart study. Hypertension 2000;36(4):477-83.

Krege JH , Kim HS , Moyer JS et al. Angiotensin-converting enzyme gene mutations, blood pressures, and cardiovascular homeostasis. Hypertension 1997;29(1 Pt 2):150-7.

Griendling KK , Ushio-Fukai M. , Lassegue B. , Alexander RW Angiotensin II signaling in vascular smooth muscle. New concepts. Hypertension 1997;29(1 Pt 2):366-73.

Regitz-Zagrosek V. , Neuss M. , Holzmeister J. , Warnecke C. , Fleck E. Molecular biology of angiotensin receptors and their role in human cardiovascular disease. J Mol Med 1996;74(5): 233-51.

BonnardeauxA. , Davies E. , Jeunemaitre X. et al. Angiotensin II type 1 receptor gene polymorphisms in human essential hypertension. Hypertension 1994 Jul;24(1):63-9.

Wang WY , Zee RY , Morris BJ Association of angiotensin II type 1 receptor gene polymorphism with essential hypertension. Clin Genet 1997;51(1):31-4.

Schmidt S. , Beige J. , Walla-Friedel M. , Michel MC , SharmaAM , Ritz E. A polymorphism in the gene for the angiotensin II type 1 receptor is not associated with hypertension. J Hypertens 1997;15(12 Pt 1):1385-8.

Berge KE , Berg K. Polymorphisms at the angiotensinogen (AGT) and angiotensin II type 1 receptor (AT1R) loci and normal blood pressure. Clin Genet 1998;53(3):214-9.

Tiret L. , Bonnardeaux A. , Poirier O. et al. Synergistic effects of angiotensin-converting enzyme and angiotensin-II type 1 receptor gene polymorphisms on risk of myocardial infarction. Lancet 1994;344:910-3.

Berge KE , Bakken A. , Bohn M. , Erikssen J. , Berg K. A DNA polymorphism at the angiotensin II type 1 receptor (AT1R) locus and myocardial infarction. Clin Genet 1997;52(2):71-6.

Benetos A. , Gautier S. , Ricard S. et al. Influence of angiotensin-converting enzyme and angiotensin II type 1 receptor gene polymorphisms on aortic stiffness in normotensive and hypertensive patients. Circulation 1996;94(4):698-703.

Benetos A. , Cambien F. , Gautier S. et al. Influence of the angiotensin II type 1 receptor gene polymorphism on the effects of perindopril and nitrendipine on arterial stiffness in hypertensive individuals. Hypertension 1996; 28:1081-4.

Castellano M. , Muiesan ML , Beschi M. et al. Angiotensin II type 1 receptor A/C1166 polymorphism: relationship with blood pressure and cardiovascular structure . Hypertension 1996 ; 28:1076-80.

Miller JA , Thai K. , Scholey JW Angiotensin II type 1 receptor polymorphism predicts response to losartan and angiotensin II. Kidney International 1999 ; 56:2173-80.

Lifton RP , Dluhy RG , Powers M. et al. A chimaeric 11 betahydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature 1992; Jan 16;355(6357):262-5.

Davies E. , Holloway CD , Ingram MC et al. Aldosterone excretion rate and blood pressure in essential hypertension are related to polymorphic differences in the aldosterone synthase gene CYP11B2 . Hypertension 1999;33(2):703-7.

White PC , Slutsker L. Haplotype analysis of CYP11B2. Endocr Res 1995;21(1-2):437-42.

Kupari M. , Hautanen A. , Lankinen L. et al. Associations between human aldosterone synthase (CYP11B2) gene polymorphisms and left ventricular size, mass, and function. Circulation 1998;97(6):569-75.

Ylitalo A. , Airaksinen KE , Hautanen A. et al. Baroreflex sensitivity and variants of the renin angiotensin system genes. J Am Coll Cardiol 2000;35(1):194-200.

Schunkert H. , Hengstenberg C. , Holmer SR et al. Lack of association between a polymorphism of the aldosterone synthase gene and left ventricular structure. Circulation 1999; 99(17):2255-60.

Pojoga L. , Gautier S. , Blanc H. et al. Genetic determination of plasma aldosterone levels in essential hypertension. Am J Hypertens 1998;11(7):856-60.

Lim PO , Macdonald TM , Holloway C. et al. Variation at the aldosterone synthase (CYP11B2) locus contributes to hypertension in subjects with a raised aldosterone to renin ratio- Annual Scientific Meeting of the British Hypertension Society, Cambridge, UK, 11-13 September 2000. J Hum Hypertens 14(12), 837-856.